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
ABHD1	84696	broad.mit.edu	37	2	27351452	27351452	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:27351452C>T	ENST00000316470.4	+	2	372	c.258C>T	c.(256-258)ccC>ccT	p.P86P		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	86						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCTCAGCCCCTAGTCCTTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	119	122			NA	NA	2		NA											NA				27351452		2203	4300	6503	SO:0001819	synonymous_variant			AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994	84696	84696		Abhydrolase domain containing	17553	protein-coding gene	gene with protein product		612195			NA	11922611	Standard	NM_032604	NM_032604	NA	Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.258C>T	2.37:g.27351452C>T		NA	Q05BY3|Q53SZ1|Q8IXQ7	37	CCDS1736.1																																																																																			ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214188.1		+	ENST00000316470.4	Silent	SNP	2 : 27351452 - 27351452 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	462	194
ADCY8	114	broad.mit.edu	37	8	131793086	131793086	+	Silent	SNP	G	G	A	rs145809062		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:131793086G>A	ENST00000286355.5	-	18	5398	c.3306C>T	c.(3304-3306)ggC>ggT	p.G1102G	ADCY8_ENST00000377928.3_Silent_p.G971G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1102					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G1102G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567		NA								HNSCC(32;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	108	108	108		3306	4.2	1	8	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ADCY8	NM_001115.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		1102/1252	131793086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	114	114	4.6.1.1	Adenylate cyclases	239	protein-coding gene	gene with protein product		103070		ADCY3	NA	8076676	Standard		NM_001115	NA	Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3306C>T	8.37:g.131793086G>A		NA		37	CCDS6363.1																																																																																			ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380080.1		-	ENST00000286355.5	Silent	SNP	8 : 131793086 - 131793086 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	1128	268
AFF3	3899	broad.mit.edu	37	2	100210198	100210198	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:100210198C>T	ENST00000409236.2	-	13	2037	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	AFF3_ENST00000409579.1_Missense_Mutation_p.R667H|AFF3_ENST00000356421.2_Missense_Mutation_p.R667H|AFF3_ENST00000317233.4_Missense_Mutation_p.R642H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGGAGGAGCGCAGCTCCTT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	49			NA	NA	2		NA											NA				100210198		2203	4300	6503	SO:0001583	missense			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1925G>A	2.37:g.100210198C>T	ENSP00000387207:p.Arg642His	NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132295	0.77662	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.87	4.87	0.63330	.	0.106321	0.39544	N	0.001335	T	0.79112	0.4391	M	0.76328	2.33	0.36093	D	0.843611	D;D;D	0.89917	1.0;0.995;0.993	D;P;P	0.71414	0.973;0.63;0.834	D	0.84661	0.0706	10	0.72032	D	0.01	.	11.1113	0.48235	0.0:0.9137:0.0:0.0863	.	795;642;667	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	642;667;667;642;642;795;667	ENSP00000317421:R642H;ENSP00000348793:R667H;ENSP00000386834:R667H;ENSP00000387207:R642H	ENSP00000317421:R642H	R	-	2	0	AFF3	99576630	.	.	0.977000	0.42913	0.932000	0.56968	.	.	2.426000	0.82243	0.561000	0.74099	CGC	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Missense_Mutation	SNP	2 : 100210198 - 100210198 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	272	116
ANKS1A	23294	broad.mit.edu	37	6	35050548	35050548	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:35050548C>T	ENST00000360359.3	+	18	2928	c.2790C>T	c.(2788-2790)caC>caT	p.H930H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	930						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTTGGCAACACCAGCCAGAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	6		NA											NA				35050548		2203	4300	6503	SO:0001819	synonymous_variant			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999	23294	23294		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20961	protein-coding gene	gene with protein product		608994	ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1	ANKS1	NA	9039502	Standard	XM_166478	NM_015245	NA	Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2790C>T	6.37:g.35050548C>T		NA	A2RUC1|Q5JYI9|Q5SYR2|Q86WQ7	37	CCDS4798.1																																																																																			ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040262.1		+	ENST00000360359.3	Silent	SNP	6 : 35050548 - 35050548 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	221	11
ANXA11	311	broad.mit.edu	37	10	81928927	81928927	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:81928927T>C	ENST00000438331.1	-	6	841	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	ANXA11_ENST00000535999.1_Missense_Mutation_p.Y120C|ANXA11_ENST00000537102.1_Missense_Mutation_p.Y87C|ANXA11_ENST00000372231.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000422982.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000360615.4_Missense_Mutation_p.Y120C|ANXA11_ENST00000265447.4_Missense_Mutation_p.Y120C	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	120					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTATGGCGGATATGAGGGCAT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	13			NA	NA	10		NA											NA				81928927		2183	4273	6456	SO:0001583	missense			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359	311	311		Annexins	535	protein-coding gene	gene with protein product		602572		ANX11	NA	7508441, 9503022	Standard	NM_145869	NM_001157	NA	Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.359A>G	10.37:g.81928927T>C	ENSP00000398610:p.Tyr120Cys	NA		37	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.86|10.86	1.468449|1.468449	0.26335|0.26335	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000424188|ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	.|T;T;T;T;T;T;T	.|0.02345	.|4.33;4.33;4.33;4.33;4.33;4.33;4.36	5.35|5.35	2.94|2.94	0.34122|0.34122	.|.	.|0.629858	.|0.17136	.|N	.|0.185624	T|T	0.11922|0.11922	0.0290|0.0290	M|M	0.80183|0.80183	2.485|2.485	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.76494	.|0.999;0.997;0.997	.|D;P;P	.|0.70716	.|0.97;0.85;0.85	T|T	0.08106|0.08106	-1.0738|-1.0738	6|10	0.35671|0.45353	T|T	0.21|0.12	.|.	6.557|6.557	0.22466|0.22466	0.0:0.0832:0.1564:0.7604|0.0:0.0832:0.1564:0.7604	.|.	.|220;120;120	.|B7Z6L0;Q5T0G8;P50995	.|.;.;ANX11_HUMAN	M|C	46|120;120;120;120;120;120;120;87;120;120	.|ENSP00000361305:Y120C;ENSP00000404412:Y120C;ENSP00000398610:Y120C;ENSP00000353827:Y120C;ENSP00000265447:Y120C;ENSP00000441748:Y120C;ENSP00000441400:Y87C	ENSP00000410826:I46M|ENSP00000265447:Y120C	I|Y	-|-	3|2	3|0	ANXA11|ANXA11	81918907|81918907	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.568000|0.568000	0.35870|0.35870	4.881000|4.881000	0.63114|0.63114	0.406000|0.406000	0.25560|0.25560	0.460000|0.460000	0.39030|0.39030	ATA|TAT	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049044.1		-	ENST00000438331.1	Missense_Mutation	SNP	10 : 81928927 - 81928927 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	66	22
ARHGAP20	57569	broad.mit.edu	37	11	110494918	110494918	+	Silent	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:110494918G>C	ENST00000260283.4	-	5	755	c.471C>G	c.(469-471)ggC>ggG	p.G157G	ARHGAP20_ENST00000528829.1_Silent_p.G121G|ARHGAP20_ENST00000524756.1_Silent_p.G134G|ARHGAP20_ENST00000357139.3_Silent_p.G131G|ARHGAP20_ENST00000533353.1_Silent_p.G131G|ARHGAP20_ENST00000527598.1_Silent_p.G121G	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	157	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTGTGGGCCAGCCCAAAACAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	11		NA											NA				110494918		2201	4298	6499	SO:0001819	synonymous_variant			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727	57569	57569		Rho GTPase activating proteins	18357	protein-coding gene	gene with protein product		609568			NA	14532992	Standard	NM_020809	NM_020809	NA	Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.471C>G	11.37:g.110494918G>C		NA	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	37	CCDS31673.1																																																																																			ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390628.1		-	ENST00000260283.4	Silent	SNP	11 : 110494918 - 110494918 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	164	87
ASIC2	40	broad.mit.edu	37	17	32483324	32483324	+	Silent	SNP	C	C	T	rs137994407	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:32483324C>T	ENST00000359872.6	-	1	989	c.228G>A	c.(226-228)gtG>gtA	p.V76V		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	76					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding				NA					Amiloride(DB00594)	CCACTTCGTCCACCTTAGTGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	74	72			NA	NA	17		NA											NA				32483324		2193	4290	6483	SO:0001819	synonymous_variant			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684	40	40		Ion channels / Acid-sensing (proton-gated) ion channels	99	protein-coding gene	gene with protein product	degenerin	601784	amiloride-sensitive cation channel 1, neuronal	ACCN, ACCN1	NA	8921408	Standard	NM_183377, NM_001094	NM_183377	NA	Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.228G>A	17.37:g.32483324C>T		NA	Q13553|Q6DJU1|Q8N3E2	37	CCDS42296.1																																																																																			ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447552.1		-	ENST00000359872.6	Silent	SNP	17 : 32483324 - 32483324 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	231	17
ASPRV1	151516	broad.mit.edu	37	2	70188473	70188473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:70188473C>T	ENST00000320256.4	-	1	924	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	116					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTGTGCAGCCAGAGGTTTG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	53	54			NA	NA	2		NA											NA				70188473		2203	4300	6503	SO:0001587	stop_gained			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617	151516	151516			26321	protein-coding gene	gene with protein product	Skin ASpartic Protease	611765			NA	16098038, 16565508	Standard	NM_152792	NM_152792	NA	Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.348G>A	2.37:g.70188473C>T	ENSP00000315383:p.Trp116*	NA	Q8N5P2|Q96LT3|Q96N43	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	38	7.272686	0.98179	.	.	ENSG00000244617	ENST00000320256	.	.	.	5.99	5.99	0.97316	.	0.151068	0.30723	N	0.009003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1769	15.9778	0.80083	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000315383:W116X	W	-	3	0	ASPRV1	70041977	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	3.754000	0.55189	2.840000	0.97914	0.655000	0.94253	TGG	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334161.1		-	ENST00000320256.4	Nonsense_Mutation	SNP	2 : 70188473 - 70188473 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	233	99
ATG10	83734	broad.mit.edu	37	5	81283497	81283497	+	Splice_Site	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:81283497G>C	ENST00000513443.1	+	2	555	c.108G>C	c.(106-108)aaG>aaC	p.K36N	ATG10_ENST00000513634.1_Splice_Site_p.K36N|ATG10_ENST00000458350.3_Splice_Site_p.K36N|ATG10_ENST00000355178.4_Splice_Site_p.K36N|ATG10_ENST00000282185.3_Splice_Site_p.K36N			Q9H0Y0	ATG10_HUMAN	autophagy related 10	36					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACCATCAAAGGTAAGAATGG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	111	108			NA	NA	5		NA											NA				81283497		2203	4298	6501	SO:0001630	splice_region_variant			AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348	83734	83734			20315	protein-coding gene	gene with protein product		610800	APG10 autophagy 10-like (S. cerevisiae), ATG10 autophagy related 10 homolog (S. cerevisiae)	APG10L	NA		Standard	NM_001131028	NM_031482	NA	Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000513443.1:c.108+1G>C	5.37:g.81283497G>C		NA	B2RE09|Q6PIX1|Q9H842	37		.	.	.	.	.	.	.	.	.	.	G	11.62	1.692609	0.30052	.	.	ENSG00000152348	ENST00000355178;ENST00000282185;ENST00000458350;ENST00000510085;ENST00000513443;ENST00000513634	T;T;T;T;T	0.53206	0.63;1.79;1.79;0.63;0.79	5.71	5.71	0.89125	.	0.221960	0.44483	D	0.000445	T	0.65842	0.2730	M	0.66939	2.045	0.46586	D	0.999115	D;P;D	0.71674	0.985;0.906;0.998	P;B;D	0.66351	0.614;0.444;0.943	T	0.62421	-0.6858	10	0.40728	T	0.16	-20.5549	17.1386	0.86747	0.0:0.0:1.0:0.0	.	36;36;36	D6RDX3;Q9H0Y0;Q9H0Y0-2	.;ATG10_HUMAN;.	N	36	ENSP00000347309:K36N;ENSP00000282185:K36N;ENSP00000404938:K36N;ENSP00000425182:K36N;ENSP00000425225:K36N	ENSP00000282185:K36N	K	+	3	2	ATG10	81319253	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.532000	0.67154	2.861000	0.98227	0.650000	0.86243	AAG	ATG10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369553.1	Missense_Mutation	+	ENST00000513443.1	Splice_Site	SNP	5 : 81283497 - 81283497 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	388	90
ATM	472	broad.mit.edu	37	11	108124539	108124539	+	Splice_Site	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:108124539A>C	ENST00000452508.2	+	14	2087		c.e14-1		ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase	NA					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTTCTTGAAGTGAACACCA	0.294		NA	D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0			GRCh37	CS014124	ATM	S							44	45	45			NA	NA	11		NA											NA				108124539		2200	4297	6497	SO:0001630	splice_region_variant	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311	472	472			795	protein-coding gene	gene with protein product	TEL1, telomere maintenance 1, homolog (S. cerevisiae)	607585	ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated	ATA, ATDC, ATC, ATD	NA		Standard	NM_000051	XM_005271561	NA	Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1899-1A>C	11.37:g.108124539A>C		NA	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142880	0.57044	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0753	0.64887	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107629749	1.000000	0.71417	0.997000	0.53966	0.722000	0.41435	5.502000	0.66956	2.343000	0.79666	0.533000	0.62120	.	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389938.1	Intron	+	ENST00000452508.2	Splice_Site	SNP	11 : 108124539 - 108124539 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	175	105
ATP6V0A2	23545	broad.mit.edu	37	12	124242536	124242536	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124242536G>C	ENST00000330342.3	+	20	2776	c.2528G>C	c.(2527-2529)aGt>aCt	p.S843T	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.S125T	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	843					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTCTCATTCAGTCTACTTTCA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	113	117			NA	NA	12		NA											NA				124242536		2203	4300	6503	SO:0001583	missense			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344	23545	23545		ATPases / V-type	18481	protein-coding gene	gene with protein product	infantile malignant osteopetrosis	611716	infantile malignant osteopetrosis, ATPase, H+ transporting, lysosomal V0 subunit a isoform 2, ATPase, H+ transporting, lysosomal V0 subunit A2		NA	2247090, 18157129	Standard	NM_012463	NM_012463	NA	Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2528G>C	12.37:g.124242536G>C	ENSP00000332247:p.Ser843Thr	NA	A8K026|Q6NUM0	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346017	0.24426	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.88277	-1.84;-2.35;-2.36	5.71	4.73	0.59995	.	1.007950	0.07933	N	0.977859	T	0.81356	0.4805	N	0.25286	0.73	0.24219	N	0.995444	B	0.15141	0.012	B	0.21917	0.037	T	0.68985	-0.5265	10	0.56958	D	0.05	-0.158	3.2212	0.06716	0.5876:0.0:0.4124:0.0	.	843	Q9Y487	VPP2_HUMAN	T	843;123;125	ENSP00000332247:S843T;ENSP00000443726:S123T;ENSP00000441143:S125T	ENSP00000332247:S843T	S	+	2	0	ATP6V0A2	122808489	1.000000	0.71417	0.922000	0.36590	0.474000	0.32979	2.844000	0.48246	1.312000	0.45043	0.655000	0.94253	AGT	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400765.2		+	ENST00000330342.3	Missense_Mutation	SNP	12 : 124242536 - 124242536 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	192	13
B3GNT8	374907	broad.mit.edu	37	19	41931793	41931793	+	Silent	SNP	G	G	A	rs147647792		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:41931793G>A	ENST00000321702.2	-	3	1344	c.891C>T	c.(889-891)ttC>ttT	p.F297F	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	297					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AGCCACCTTCGAAGAAGGACT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4404		0,0,2202	27	29	28		891	-7.1	0.1	19	dbSNP_134	28	1,8591		0,1,4295	no	coding-synonymous	B3GNT8	NM_198540.2		0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077		297/398	41931793	1,12995	2202	4296	6498	SO:0001819	synonymous_variant			AY277592	CCDS12582.1	19q13	2013-02-19	2006-03-14	2006-03-14		ENSG00000177191	374907	374907		Beta 3-glycosyltransferases	24139	protein-coding gene	gene with protein product		615357	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7	B3GALT7	NA	15486459	Standard	NM_198540	NM_198540	NA	Approved	BGALT15, beta3Gn-T8	uc002oqs.3	Q7Z7M8		ENST00000321702.2:c.891C>T	19.37:g.41931793G>A		NA		37	CCDS12582.1																																																																																			B3GNT8-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463448.1		-	ENST00000321702.2	Silent	SNP	19 : 41931793 - 41931793 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	232	7
BCAT1	586	broad.mit.edu	37	12	25002795	25002795	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:25002795T>G	ENST00000261192.7	-	6	1125	c.599A>C	c.(598-600)aAt>aCt	p.N200T	BCAT1_ENST00000342945.5_Missense_Mutation_p.N139T|BCAT1_ENST00000538118.1_Missense_Mutation_p.N199T|BCAT1_ENST00000539780.1_Missense_Mutation_p.N163T|BCAT1_ENST00000539282.1_Missense_Mutation_p.N212T|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	200					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGACACTGGATTAAAGGTTCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	130	132			NA	NA	12		NA											NA				25002795		1839	4080	5919	SO:0001583	missense				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	586	586	2.6.1.42		976	protein-coding gene	gene with protein product		113520	branched chain aminotransferase 1, cytosolic	BCT1	NA	9165094	Standard	NM_005504	NM_005504	NA	Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.599A>C	12.37:g.25002795T>G	ENSP00000261192:p.Asn200Thr	NA	Q96MY9	37	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286442	0.23478	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.33	4.16	0.48862	.	0.427611	0.27231	N	0.020307	T	0.11665	0.0284	L	0.35341	1.055	0.29410	N	0.861281	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.003;0.002	T	0.13308	-1.0514	10	0.37606	T	0.19	-9.1574	5.1552	0.15031	0.0:0.1531:0.163:0.6838	.	163;212;139;200;199	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	T	200;199;139;212;163	ENSP00000261192:N200T;ENSP00000440817:N199T;ENSP00000339805:N139T;ENSP00000443459:N212T;ENSP00000440827:N163T	ENSP00000261192:N200T	N	-	2	0	BCAT1	24894062	0.982000	0.34865	0.600000	0.28864	0.925000	0.55904	1.851000	0.39338	0.841000	0.35020	0.533000	0.62120	AAT	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402080.1		-	ENST00000261192.7	Missense_Mutation	SNP	12 : 25002795 - 25002795 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	1865	91
BPTF	2186	broad.mit.edu	37	17	65941849	65941849	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:65941849G>A	ENST00000306378.6	+	21	7085	c.7025G>A	c.(7024-7026)cGt>cAt	p.R2342H	BPTF_ENST00000335221.5_Missense_Mutation_p.R2468H|BPTF_ENST00000321892.4_Missense_Mutation_p.R2468H|BPTF_ENST00000424123.3_Missense_Mutation_p.R2329H	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2468	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTCCTGTTCGTGTCCAAAGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	174	186			NA	NA	17		NA											NA				65941849		2203	4300	6503	SO:0001583	missense			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.7025G>A	17.37:g.65941849G>A	ENSP00000307208:p.Arg2342His	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343417	0.41498	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.62788	0.0;-0.0;-0.0	5.95	5.95	0.96441	.	.	.	.	.	T	0.56202	0.1969	L	0.33485	1.01	0.18873	N	0.999982	P;D;D	0.58620	0.909;0.983;0.983	B;P;P	0.48454	0.288;0.578;0.578	T	0.55127	-0.8189	9	0.62326	D	0.03	-6.8245	7.451	0.27237	0.1075:0.2945:0.5981:0.0	.	146;2342;2468	B4DJV8;Q12830-2;Q12830-4	.;.;.	H	2342;2468;2468;139	ENSP00000307208:R2342H;ENSP00000334351:R2468H;ENSP00000315454:R2468H	ENSP00000307208:R2342H	R	+	2	0	BPTF	63372311	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.814000	0.48010	2.827000	0.97445	0.650000	0.86243	CGT	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Missense_Mutation	SNP	17 : 65941849 - 65941849 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	327	70
CCR10	2826	broad.mit.edu	37	17	40831612	40831612	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:40831612A>C	ENST00000591765.1	-	2	1767	c.382T>G	c.(382-384)Tca>Gca	p.S128A	CCR10_ENST00000332438.4_Missense_Mutation_p.S350A			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	350						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTGGGAGCTGAGCAGGAAGAA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	22			NA	NA	17		NA											NA				40831612		2198	4278	6476	SO:0001583	missense			AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451	2826	2826		GPCR / Class A : Chemokine receptors : C-C motif	4474	protein-coding gene	gene with protein product		600240	G protein-coupled receptor 2	GPR2	NA	7851889	Standard	NM_016602	NM_016602	NA	Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000591765.1:c.382T>G	17.37:g.40831612A>C	ENSP00000468135:p.Ser128Ala	NA	Q4V749|Q6T7X2|Q9NZG2	37		.	.	.	.	.	.	.	.	.	.	A	17.83	3.484634	0.63962	.	.	ENSG00000184451	ENST00000332438	T	0.66995	-0.24	3.91	3.91	0.45181	.	0.000000	0.31747	U	0.007140	T	0.40498	0.1119	N	0.08118	0	0.27245	N	0.959051	P	0.37708	0.606	B	0.34138	0.176	T	0.38045	-0.9679	10	0.66056	D	0.02	.	5.8244	0.18546	0.8805:0.0:0.1195:0.0	.	350	P46092	CCR10_HUMAN	A	350	ENSP00000332504:S350A	ENSP00000332504:S350A	S	-	1	0	CCR10	38085138	0.932000	0.31603	0.988000	0.46212	0.965000	0.64279	2.176000	0.42500	1.630000	0.50440	0.260000	0.18958	TCA	CCR10-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452339.1		-	ENST00000591765.1	Missense_Mutation	SNP	17 : 40831612 - 40831612 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	152	22
CD300LD	100131439	broad.mit.edu	37	17	72584875	72584875	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72584875G>A	ENST00000375352.1	-	2	234	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	52	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCTTGACACCGCCACTTCAAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	144	152			NA	NA	17		NA											NA				72584875		1568	3582	5150	SO:0001583	missense				CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345	100131439	100131439		Immunoglobulin superfamily / V-set domain containing	16848	protein-coding gene	gene with protein product					NA	22291008	Standard	NM_001115152	NM_001115152	NA	Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.154C>T	17.37:g.72584875G>A	ENSP00000364501:p.Arg52Trp	NA		37	CCDS42379.1	.	.	.	.	.	.	.	.	.	.	A	0.059	-1.229064	0.01518	.	.	ENSG00000204345	ENST00000375352	T	0.65364	-0.15	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41938	N	0.000798	T	0.10121	0.0248	N	0.00001	-3.75	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45131	-0.9282	10	0.02654	T	1	.	8.8021	0.34916	0.9078:0.0:0.0922:0.0	.	52	Q6UXZ3	CLM4_HUMAN	W	52	ENSP00000364501:R52W	ENSP00000364501:R52W	R	-	1	2	CD300LD	70096470	1.000000	0.71417	0.970000	0.41538	0.119000	0.20118	3.603000	0.54074	0.765000	0.33221	-0.361000	0.07541	CGG	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000145099.1		-	ENST00000375352.1	Missense_Mutation	SNP	17 : 72584875 - 72584875 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	459	137
CLEC3A	10143	broad.mit.edu	37	16	78056626	78056626	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:78056626C>T	ENST00000299642.4	+	1	215	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	CLEC3A_ENST00000575655.1_Missense_Mutation_p.R35C|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	35					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GCACAGCAAACGTCGAGTGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	84	92			NA	NA	16		NA											NA				78056626		2198	4300	6498	SO:0001583	missense			AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509	10143	10143		C-type lectin domain containing	2052	protein-coding gene	gene with protein product		613588	C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)	CLECSF1	NA	10524194	Standard	NM_005752	NM_001244755	NA	Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000299642.4:c.130C>T	16.37:g.78056626C>T	ENSP00000299642:p.Arg44Cys	NA	B2R8C4|Q3SX91|Q6UXF5	37	CCDS10927.2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023093	0.54683	.	.	ENSG00000166509	ENST00000299642	T	0.07444	3.19	5.71	5.71	0.89125	.	0.111853	0.64402	D	0.000018	T	0.14313	0.0346	L	0.36672	1.1	0.54753	D	0.999984	D	0.89917	1.0	P	0.56088	0.791	T	0.00265	-1.1865	10	0.62326	D	0.03	-21.9609	10.9099	0.47103	0.1446:0.7157:0.1397:0.0	.	35	O75596	CLC3A_HUMAN	C	35	ENSP00000299642:R35C	ENSP00000299642:R35C	R	+	1	0	CLEC3A	76614127	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.486000	0.45259	2.687000	0.91594	0.655000	0.94253	CGT	CLEC3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269041.2		+	ENST00000299642.4	Missense_Mutation	SNP	16 : 78056626 - 78056626 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	138	33
CRYBB1	1414	broad.mit.edu	37	22	27008041	27008041	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:27008041C>T	ENST00000215939.2	-	3	424	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	98	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CTCACGGTCCCGCGGAGACAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	79			NA	NA	22		NA											NA				27008041		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122	1414	1414			2397	protein-coding gene	gene with protein product		600929			NA	8575764, 12360425	Standard	NM_001887	NM_001887	NA	Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.294G>A	22.37:g.27008041C>T		NA		37	CCDS13840.1																																																																																			CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320767.1		-	ENST00000215939.2	Silent	SNP	22 : 27008041 - 27008041 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	424	58
CSPG4	1464	broad.mit.edu	37	15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	13	13			NA	NA	15		NA											NA				75982360		2186	4278	6464	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1046C>T	15.37:g.75982360G>A	ENSP00000312506:p.Ala349Val	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	9.028	0.986482	0.18889	.	.	ENSG00000173546	ENST00000308508	T	0.78595	-1.19	5.26	-1.25	0.09405	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.407880	0.04170	N	0.324555	T	0.58921	0.2156	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41538	-0.9503	10	0.12766	T	0.61	.	7.2785	0.26297	0.4345:0.0:0.4544:0.1111	.	349	Q6UVK1	CSPG4_HUMAN	V	349	ENSP00000312506:A349V	ENSP00000312506:A349V	A	-	2	0	CSPG4	73769415	0.000000	0.05858	0.032000	0.17829	0.867000	0.49689	-0.051000	0.11885	-0.106000	0.12110	0.555000	0.69702	GCC	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75982360 - 75982360 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	107	8
CXorf66	347487	broad.mit.edu	37	X	139038807	139038807	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:139038807T>A	ENST00000370540.1	-	3	357	c.334A>T	c.(334-336)Atg>Ttg	p.M112L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	112	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTAGATAGCATGGGTTGTGTT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	172	184			NA	NA	X		NA											NA				139038807		2203	4300	6503	SO:0001583	missense				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933	347487	347487			33743	protein-coding gene	gene with protein product	secreted glycoprotein, X-linked				NA	24709545	Standard	NM_001013403	NM_001013403	NA	Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.334A>T	X.37:g.139038807T>A	ENSP00000359571:p.Met112Leu	NA		37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	T	2.949	-0.217101	0.06101	.	.	ENSG00000203933	ENST00000370540	T	0.39229	1.09	3.74	-7.44	0.01379	.	1.308190	0.05445	N	0.548286	T	0.16896	0.0406	N	0.11201	0.11	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.13150	-1.0520	9	.	.	.	-1.6954	2.8867	0.05663	0.2427:0.0995:0.4843:0.1735	.	112	Q5JRM2	CX066_HUMAN	L	112	ENSP00000359571:M112L	.	M	-	1	0	CXorf66	138866473	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.177000	0.01261	-1.624000	0.01556	-0.491000	0.04670	ATG	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058572.1		-	ENST00000370540.1	Missense_Mutation	SNP	X : 139038807 - 139038807 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	176	417
DAO	1610	broad.mit.edu	37	12	109278890	109278890	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:109278890G>A	ENST00000551281.1	+	2	221	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DAO_ENST00000228476.3_Silent_p.A36A			P14920	OXDA_HUMAN	D-amino-acid oxidase	36					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGGTCTACGCGGACCGCTTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	100	104			NA	NA	12		NA											NA				109278890		2203	4300	6503	SO:0001819	synonymous_variant			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1610	1610	1.4.3.3		2671	protein-coding gene	gene with protein product		124050			NA	1356107, 8182053	Standard		NM_001917	NA	Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000551281.1:c.108G>A	12.37:g.109278890G>A		NA	B2R7I5|Q16758|Q8N6R2	37																																																																																				DAO-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403680.1		+	ENST00000551281.1	Silent	SNP	12 : 109278890 - 109278890 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	414	105
DENND1A	57706	broad.mit.edu	37	9	126165765	126165765	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:126165765C>T	ENST00000373624.2	-	20	1694	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	DENND1A_ENST00000542603.1_Missense_Mutation_p.R240H|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.R468H|DENND1A_ENST00000373620.3_Missense_Mutation_p.R498H|DENND1A_ENST00000394219.3_Missense_Mutation_p.R466H	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	498						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACGAGGTGGGCGCACCTAGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	75	85			NA	NA	9		NA											NA				126165765		2203	4300	6503	SO:0001583	missense			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522	57706	57706		DENN/MADD domain containing	29324	protein-coding gene	gene with protein product		613633	KIAA1608	KIAA1608	NA	10997877	Standard	NM_024820	XM_005252109	NA	Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1493G>A	9.37:g.126165765C>T	ENSP00000362727:p.Arg498His	NA	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678086	0.68042	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215	T;T;T;T;T	0.29917	3.06;1.55;2.98;3.14;2.98	5.21	4.31	0.51392	.	0.110159	0.64402	D	0.000005	T	0.56366	0.1980	M	0.80746	2.51	0.43564	D	0.995888	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.997	D;D;D;D;D;P	0.80764	0.967;0.969;0.994;0.938;0.95;0.828	T	0.59773	-0.7391	10	0.41790	T	0.15	-16.9235	14.4888	0.67637	0.0:0.8534:0.1466:0.0	.	466;456;468;498;498;318	Q8TEH3-6;Q8TEH3-7;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;DEN1A_HUMAN;.	H	498;240;466;498;468	ENSP00000362727:R498H;ENSP00000437457:R240H;ENSP00000377766:R466H;ENSP00000362722:R498H;ENSP00000377763:R468H	ENSP00000362722:R498H	R	-	2	0	DENND1A	125205586	1.000000	0.71417	0.983000	0.44433	0.551000	0.35334	5.317000	0.65822	1.312000	0.45043	0.561000	0.74099	CGC	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053997.1		-	ENST00000373624.2	Missense_Mutation	SNP	9 : 126165765 - 126165765 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	143	20
DHX33	56919	broad.mit.edu	37	17	5365761	5365761	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:5365761G>A	ENST00000433302.3	-	1	346				DHX33_ENST00000225296.3_Missense_Mutation_p.R186W			Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	NA						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGTATTTCCGAAGCAAAGAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	100	104			NA	NA	17		NA											NA				5365761		2203	4300	6503	SO:0001627	intron_variant			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100	56919	56919		DEAH-boxes	16718	protein-coding gene	gene with protein product		614405	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33	DDX33	NA		Standard	NM_020162	NM_020162	NA	Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000433302.3:c.289+6129C>T	17.37:g.5365761G>A		NA	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.357302	0.82243	.	.	ENSG00000005100	ENST00000225296	T	0.02737	4.18	5.87	4.89	0.63831	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116965	0.64402	D	0.000015	T	0.11067	0.0270	L	0.58428	1.81	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.00888	-1.1526	10	0.72032	D	0.01	.	15.3842	0.74684	0.0:0.0:0.8598:0.1402	.	186	Q9H6R0	DHX33_HUMAN	W	186	ENSP00000225296:R186W	ENSP00000225296:R186W	R	-	1	2	DHX33	5306485	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	4.683000	0.61679	1.443000	0.47586	0.650000	0.86243	CGG	DHX33-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000439396.1		-	ENST00000433302.3	Intron	SNP	17 : 5365761 - 5365761 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	257	64
DNAAF2	55172	broad.mit.edu	37	14	50100984	50100984	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:50100984G>A	ENST00000298292.8	-	1	964	c.884C>T	c.(883-885)gCc>gTc	p.A295V	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295V	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CGCCTGCTCGGCCGAGCGCAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	14		NA											NA				50100984		2123	4188	6311	SO:0001583	missense			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506	NA	55172			20188	protein-coding gene	gene with protein product	kintoun	612517	chromosome 14 open reading frame 104	C14orf104	NA		Standard		NM_001083908	NA	Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.884C>T	14.37:g.50100984G>A	ENSP00000298292:p.Ala295Val	NA	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950931	0.53186	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16457	2.34;2.34	5.23	2.26	0.28386	.	.	.	.	.	T	0.23846	0.0577	L	0.55743	1.74	0.20764	N	0.999855	B;B	0.34103	0.275;0.437	B;P	0.44447	0.067;0.45	T	0.19484	-1.0304	9	0.39692	T	0.17	.	9.8477	0.41037	0.0745:0.2621:0.6634:0.0	.	295;295	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	V	295	ENSP00000298292:A295V;ENSP00000384862:A295V	ENSP00000298292:A295V	A	-	2	0	DNAAF2	49170734	0.998000	0.40836	0.670000	0.29842	0.810000	0.45777	4.552000	0.60747	0.184000	0.20083	0.449000	0.29647	GCC	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276813.1		-	ENST00000298292.8	Missense_Mutation	SNP	14 : 50100984 - 50100984 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	191	45
DNAJB7	150353	broad.mit.edu	37	22	41257516	41257516	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:41257516A>G	ENST00000307221.4	-	1	614	c.483T>C	c.(481-483)ggT>ggC	p.G161G	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	161					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GCCCCAATGAACCCTGTGATG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	22		NA											NA				41257516		2203	4300	6503	SO:0001819	synonymous_variant			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404	150353	150353		Heat shock proteins / DNAJ (HSP40)	24986	protein-coding gene	gene with protein product		611336			NA	12477932	Standard	NM_145174	NM_145174	NA	Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.483T>C	22.37:g.41257516A>G		NA	Q2M220|Q5H904|Q8WYJ7	37	CCDS14008.1																																																																																			DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321765.1		-	ENST00000307221.4	Silent	SNP	22 : 41257516 - 41257516 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	709	122
DNMT3A	1788	broad.mit.edu	37	2	25467064	25467064	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:25467064C>T	ENST00000264709.3	-	15	2148	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R415Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R381Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R604Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	604	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTGGAGCCGGGAGGGCCA	0.632		NA	Mis, F, N, S		AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													29	35	33			NA	NA	2		NA											NA				25467064		2203	4300	6503	SO:0001583	missense				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772	1788	1788			2978	protein-coding gene	gene with protein product		602769			NA	9662389, 10433969	Standard	NM_022552	NM_175630	NA	Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1811G>A	2.37:g.25467064C>T	ENSP00000264709:p.Arg604Gln	NA	Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763733	0.89932	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.15	4.27	0.50696	Zinc finger, FYVE/PHD-type (1);	0.051639	0.85682	N	0.000000	T	0.66107	0.2756	L	0.35854	1.095	0.80722	D	1	D;D	0.69078	0.989;0.997	B;B	0.38954	0.286;0.244	T	0.67019	-0.5776	10	0.42905	T	0.14	-7.4116	12.4839	0.55861	0.0:0.9179:0.0:0.0821	.	604;415	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	415;604;604;381	ENSP00000370122:R415Q;ENSP00000324375:R604Q;ENSP00000264709:R604Q;ENSP00000384237:R381Q	ENSP00000264709:R604Q	R	-	2	0	DNMT3A	25320568	0.999000	0.42202	0.674000	0.29902	0.985000	0.73830	4.076000	0.57591	1.163000	0.42636	0.655000	0.94253	CGG	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211587.1		-	ENST00000264709.3	Missense_Mutation	SNP	2 : 25467064 - 25467064 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	224	48
DSC2	1824	broad.mit.edu	37	18	28648987	28648987	+	Missense_Mutation	SNP	G	G	A	rs1617629		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:28648987G>A	ENST00000280904.6	-	15	2824	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	DSC2_ENST00000251081.6_Missense_Mutation_p.S794L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	794					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCAGGATTCCGAGGTCTGGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/SER,LEU/SER	0,4406		0,0,2203	84	75	78		2381,2381	4.3	0.9	18	dbSNP_89	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSC2	NM_004949.3,NM_024422.3	145,145	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	794/848,794/902	28648987	1,13005	2203	4300	6503	SO:0001583	missense			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755	1824	1824		Cadherins / Major cadherins	3036	protein-coding gene	gene with protein product		125645		DSC3	NA	7774948	Standard	NM_004949	NM_024422	NA	Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2381C>T	18.37:g.28648987G>A	ENSP00000280904:p.Ser794Leu	NA		37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.124104	0.01770	0.0	1.16E-4	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.76709	0.54;-1.04	5.46	4.3	0.51218	Cadherin, cytoplasmic domain (1);	0.398358	0.14773	N	0.299252	T	0.32585	0.0834	N	0.00034	-2.555	0.21147	N	0.99977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35847	-0.9772	10	0.02654	T	1	.	11.4427	0.50107	0.929:0.0:0.071:0.0	rs1617629	794;794	Q02487;Q02487-2	DSC2_HUMAN;.	L	794;794;560;807	ENSP00000251081:S794L;ENSP00000280904:S794L	ENSP00000251081:S794L	S	-	2	0	DSC2	26902985	0.981000	0.34729	0.933000	0.37362	0.013000	0.08279	4.341000	0.59335	1.022000	0.39626	-0.487000	0.04747	TCG	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254943.1		-	ENST00000280904.6	Missense_Mutation	SNP	18 : 28648987 - 28648987 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	254	7
DST	667	broad.mit.edu	37	6	56393693	56393693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:56393693G>A	ENST00000361203.3	-	62	16673	c.16666C>T	c.(16666-16668)Caa>Taa	p.Q5556*	DST_ENST00000446842.2_Nonsense_Mutation_p.Q5341*|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.Q3470*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3579*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q5845*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5667*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q3253*			Q03001	DYST_HUMAN	dystonin	5665					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTACATTTTGTTTCCTGAGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	124	128			NA	NA	6		NA											NA				56393693		1829	4093	5922	SO:0001587	stop_gained			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914	667	667		EF-hand domain containing	1090	protein-coding gene	gene with protein product		113810	bullous pemphigoid antigen 1, 230/240kDa	BPAG1	NA	2461961, 2276744	Standard	NM_001723	NM_001144770	NA	Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16666C>T	6.37:g.56393693G>A	ENSP00000354508:p.Gln5556*	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	G	57	27.657609	0.99972	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.4	4.53	0.55603	.	0.150799	0.30630	N	0.009214	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.8092	0.78543	0.0:0.1367:0.8633:0.0	.	.	.	.	X	3253;5845;5667;3579;5341;3470;5556	.	ENSP00000244364:Q3253X	Q	-	1	0	DST	56501652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.257000	0.58816	1.273000	0.44346	0.655000	0.94253	CAA	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Nonsense_Mutation	SNP	6 : 56393693 - 56393693 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	35	10
ENTPD5	957	broad.mit.edu	37	14	74424980	74424980	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:74424980G>T	ENST00000557325.1	-	0	2828				COQ6_ENST00000334571.2_Splice_Site_p.L204F|COQ6_ENST00000394026.4_Splice_Site_p.L179F|COQ6_ENST00000238709.4_Splice_Site_p.L129F|COQ6_ENST00000554920.1_Intron			O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	NA					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCAAATTGTTGGTAGTTGAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	77	80			NA	NA	14		NA											NA				74424980		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097	957	957			3367	protein-coding gene	gene with protein product		603162	proto-oncogene CPH	CD39L4, PCPH	NA	9271669, 9676430	Standard	NM_001249	NM_001249	NA	Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000557325.1:c.*1253C>A	14.37:g.74424980G>T		NA	A1L4C5|Q96RX0	37		.	.	.	.	.	.	.	.	.	.	G	32	5.111932	0.94339	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000553462;ENST00000334571;ENST00000556300;ENST00000557584;ENST00000557205;ENST00000554320	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.53	5.53	0.82687	Monooxygenase, FAD-binding (1);Aromatic-ring hydroxylase-like (1);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.997;0.992;0.999;0.996;0.996;0.995;0.991;0.996	T	0.77086	-0.2718	10	0.87932	D	0	-0.2753	19.6556	0.95837	0.0:0.0:1.0:0.0	.	149;204;149;179;204;129;129;129	B7Z8E9;B7Z357;B7Z262;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;.;.;COQ6_HUMAN;.;.;.	F	179;129;129;129;204;204;149;149;129	ENSP00000377594:L179F;ENSP00000238709:L129F;ENSP00000333946:L204F;ENSP00000451123:L129F	ENSP00000238709:L129F	L	+	3	2	COQ6	73494733	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.524000	0.73791	2.882000	0.98803	0.655000	0.94253	TTG	ENTPD5-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412635.1		-	ENST00000557325.1	3'UTR	SNP	14 : 74424980 - 74424980 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	279	19
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50725028	50725028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:50725028C>A	ENST00000515869.1	-	6	1657	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E513*|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E513*|PGBD3_ENST00000374127.3_Nonsense_Mutation_p.E45*|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E45*	NM_001277059.1	NP_001263988.1			ERCC6-PGBD3 readthrough	NA											NA						CCACCTTCTTCATCTCCTGAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	143	143			NA	NA	10		NA											NA				50725028		2203	4300	6503	SO:0001587	stop_gained				CCDS60529.1	10q11.23	2013-05-10			ENSG00000258838	ENSG00000258838	101243544	101243544			48347	other	readthrough					NA		Standard		NM_001277058	NA	Approved				OTTHUMG00000171334	ENST00000515869.1:c.1537G>T	10.37:g.50725028C>A	ENSP00000423550:p.Glu513*	NA		37		.	.	.	.	.	.	.	.	.	.	C	38	6.806216	0.97853	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	.	.	.	0.468	0.468	0.16732	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.2479	.	.	.	.	.	.	.	X	45;45;513;513	.	ENSP00000387966:E513X	E	-	1	0	PGBD3;RP11-123B3.6	50395034	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	1.663000	0.37429	0.488000	0.27723	0.491000	0.48974	GAA	ERCC6-PGBD3-001	NOVEL	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000413019.1		-	ENST00000515869.1	Nonsense_Mutation	SNP	10 : 50725028 - 50725028 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	772	62
EXD1	161829	broad.mit.edu	37	15	41501725	41501725	+	Missense_Mutation	SNP	G	G	A	rs144824409		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:41501725G>A	ENST00000314992.5	-	5	524	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	EXD1_ENST00000458580.2_Missense_Mutation_p.R170C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	112	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTGCCATGGCGACATACATTC	0.383		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	67	61	63		334	4.8	1	15	dbSNP_134	63	0,8600		0,0,4300	no	missense	EXD1	NM_152596.2	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	112/515	41501725	1,13005	2203	4300	6503	SO:0001583	missense			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997	161829	161829			28507	protein-coding gene	gene with protein product			exonuclease 3'-5' domain-like 1	EXDL1	NA	12477932	Standard	NM_152596	NM_001286441	NA	Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.334C>T	15.37:g.41501725G>A	ENSP00000321029:p.Arg112Cys	NA	A8K909|Q6ZW94	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622044	0.66787	2.27E-4	0.0	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.62639	0.01;0.01	4.77	4.77	0.60923	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.143577	0.46442	D	0.000287	T	0.78528	0.4297	M	0.78285	2.405	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.79621	-0.1727	10	0.51188	T	0.08	-12.7605	15.148	0.72674	0.0:0.0:1.0:0.0	.	170;112	B7Z839;Q8NHP7	.;EXD1_HUMAN	C	112;170	ENSP00000321029:R112C;ENSP00000415056:R170C	ENSP00000321029:R112C	R	-	1	0	EXD1	39289017	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.994000	0.56994	2.642000	0.89623	0.591000	0.81541	CGC	EXD1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252553.2		-	ENST00000314992.5	Missense_Mutation	SNP	15 : 41501725 - 41501725 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	147	89
FAM184A	79632	broad.mit.edu	37	6	119295669	119295669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:119295669C>T	ENST00000338891.7	-	14	3282	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	947										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATATTTTTCTCTCTGAGGTGG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	253	257			NA	NA	6		NA											NA				119295669		1812	4077	5889	SO:0001583	missense			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879	79632	79632			20991	protein-coding gene	gene with protein product			chromosome 6 open reading frame 60	C6orf60	NA	11230166	Standard	NM_024581	NM_024581	NA	Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2839G>A	6.37:g.119295669C>T	ENSP00000342604:p.Glu947Lys	NA	B9DI75|Q5TBS9|Q96GY8|Q9H0J8|Q9H851	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615205	0.87359	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000368472	T;T	0.52983	1.98;0.64	5.4	4.5	0.54988	.	0.105843	0.64402	D	0.000005	T	0.61148	0.2324	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68127	-0.5491	10	0.62326	D	0.03	-10.8537	16.0659	0.80870	0.0:0.8655:0.1345:0.0	.	947	Q8NB25	F184A_HUMAN	K	110;947;8	ENSP00000342604:E947K;ENSP00000357457:E8K	ENSP00000342604:E947K	E	-	1	0	FAM184A	119337368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.503000	0.66962	1.349000	0.45751	0.585000	0.79938	GAG	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042009.3		-	ENST00000338891.7	Missense_Mutation	SNP	6 : 119295669 - 119295669 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	892	244
FARS2	10667	broad.mit.edu	37	6	5771561	5771561	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:5771561C>A	ENST00000324331.6	+	7	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_ENST00000274680.4_Missense_Mutation_p.R419S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	419	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	124	138			NA	NA	6		NA											NA				5771561		2203	4300	6503	SO:0001583	missense			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	10667	10667	6.1.1.20	Aminoacyl tRNA synthetases / Class II	21062	protein-coding gene	gene with protein product	phenylalanine tRNA ligase 2, mitochondrial	611592	phenylalanine-tRNA synthetase 1 (mitochondrial)	FARS1	NA	10329163	Standard	NM_006567	NM_006567	NA	Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1255C>A	6.37:g.5771561C>A	ENSP00000316335:p.Arg419Ser	NA	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036211	0.93630	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.78707	-1.2;-1.2	5.81	5.81	0.92471	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92242	0.5801	10	0.87932	D	0	-29.0672	18.6464	0.91411	0.0:1.0:0.0:0.0	.	419	O95363	SYFM_HUMAN	S	419	ENSP00000274680:R419S;ENSP00000316335:R419S	ENSP00000274680:R419S	R	+	1	0	FARS2	5716560	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.724000	0.74747	2.746000	0.94184	0.655000	0.94253	CGC	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467790.1		+	ENST00000324331.6	Missense_Mutation	SNP	6 : 5771561 - 5771561 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	230	111
FAT4	79633	broad.mit.edu	37	4	126373660	126373660	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:126373660G>A	ENST00000394329.3	+	9	11502	c.11489G>A	c.(11488-11490)cGt>cAt	p.R3830H	FAT4_ENST00000335110.5_Missense_Mutation_p.R2128H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3830	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAAAAAGCCGTGAGAGTCTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	93	93			NA	NA	4		NA											NA				126373660		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11489G>A	4.37:g.126373660G>A	ENSP00000377862:p.Arg3830His	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	3.375	-0.127518	0.06753	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74737	-0.73;-0.87	5.47	-1.22	0.09494	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.472375	0.14764	N	0.299838	T	0.41282	0.1152	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23119	-1.0197	10	0.15952	T	0.53	.	3.3415	0.07120	0.366:0.0:0.2377:0.3964	.	2128;3830;3830	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3830;2128	ENSP00000377862:R3830H;ENSP00000335169:R2128H	ENSP00000335169:R2128H	R	+	2	0	FAT4	126593110	0.841000	0.29509	0.003000	0.11579	0.499000	0.33736	2.450000	0.44943	-0.198000	0.10333	0.561000	0.74099	CGT	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126373660 - 126373660 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	316	51
FBXL13	222235	broad.mit.edu	37	7	102518012	102518012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:102518012G>A	ENST00000393772.2	-	16	1963	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R513*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R513*			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	513								p.R513*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCACAATTTCGTAAACTCAAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	endometrium(2)						G	stop/ARG,stop/ARG	0,4406		0,0,2203	75	79	78		1537,1537	0.2	1	7		78	1,8579	1.2+/-3.3	0,1,4289	no	stop-gained,stop-gained	FBXL13	NM_001111038.1,NM_145032.3	,	0,1,6492	AA,AG,GG	NA	0.0117,0.0,0.0077	,	513/691,513/736	102518012	1,12985	2203	4290	6493	SO:0001587	stop_gained			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040	222235	222235		F-boxes / Leucine-rich repeats	21658	protein-coding gene	gene with protein product		609080			NA		Standard	NM_145032	NM_145032	NA	Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000393772.2:c.1537C>T	7.37:g.102518012G>A	ENSP00000377367:p.Arg513*	NA	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	37		.	.	.	.	.	.	.	.	.	.	G	39	7.576611	0.98368	0.0	1.17E-4	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	.	.	.	5.55	0.15	0.14883	.	0.151243	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.9248	0.35634	0.0687:0.0:0.4301:0.5013	.	.	.	.	X	513;513;234;513;513;513;513	.	ENSP00000321927:R513X	R	-	1	2	FBXL13	102305248	0.991000	0.36638	0.988000	0.46212	0.538000	0.34931	0.541000	0.23207	-0.177000	0.10690	-0.321000	0.08615	CGA	FBXL13-203	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000348003.1		-	ENST00000393772.2	Nonsense_Mutation	SNP	7 : 102518012 - 102518012 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	473	68
FBXL16	146330	broad.mit.edu	37	16	744694	744694	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:744694G>T	ENST00000397621.1	-	5	1562	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K	FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000324361.5_Missense_Mutation_p.Q411K|FBXL16_ENST00000562563.1_Missense_Mutation_p.Q199K	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	411										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CCGAAGTCTTGCACCTGTCGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	46	48			NA	NA	16		NA											NA				744694		2195	4294	6489	SO:0001583	missense			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585	146330	146330		F-boxes / Leucine-rich repeats	14150	protein-coding gene	gene with protein product		609082	chromosome 16 open reading frame 22	C16orf22	NA	11157797	Standard	NM_153350	NM_153350	NA	Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.1231C>A	16.37:g.744694G>T	ENSP00000380746:p.Gln411Lys	NA	D3DU60|Q2MHR2|Q96S14|Q9UJI0	37	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082644	0.36758	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.02345	4.33;4.33	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.02156	0.0067	N	0.05259	-0.085	0.53688	D	0.999979	B	0.14805	0.011	B	0.10450	0.005	T	0.59716	-0.7402	10	0.39692	T	0.17	.	15.9902	0.80199	0.0:0.0:1.0:0.0	.	411	Q8N461	FXL16_HUMAN	K	411	ENSP00000380746:Q411K;ENSP00000318674:Q411K	ENSP00000318674:Q411K	Q	-	1	0	FBXL16	684695	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.849000	0.92178	2.347000	0.79759	0.556000	0.70494	CAA	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206851.2		-	ENST00000397621.1	Missense_Mutation	SNP	16 : 744694 - 744694 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	61	4
FCN1	2219	broad.mit.edu	37	9	137809657	137809657	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:137809657G>T	ENST00000371806.3	-	1	152	c.61C>A	c.(61-63)Cat>Aat	p.H21N		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	21					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTTGATATGCAGGAACAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	90	91			NA	NA	9		NA											NA				137809657		2203	4300	6503	SO:0001583	missense			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265	2219	2219		Fibrinogen C domain containing	3623	protein-coding gene	gene with protein product		601252	ficolin (collagen/fibrinogen domain-containing) 1		NA	8573080, 8884275	Standard	NM_002003	NM_002003	NA	Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.61C>A	9.37:g.137809657G>T	ENSP00000360871:p.His21Asn	NA	Q92596	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	7.869	0.727814	0.15507	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82255	-1.59	4.16	-1.48	0.08745	.	.	.	.	.	T	0.65249	0.2673	N	0.22421	0.69	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.48091	-0.9065	9	0.27785	T	0.31	.	2.3548	0.04293	0.3544:0.0:0.2632:0.3824	.	21	O00602	FCN1_HUMAN	N	21	ENSP00000360871:H21N	ENSP00000308877:H21N	H	-	1	0	FCN1	136949478	0.001000	0.12720	0.007000	0.13788	0.138000	0.21146	-0.636000	0.05465	-0.204000	0.10235	0.579000	0.79373	CAT	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054963.1		-	ENST00000371806.3	Missense_Mutation	SNP	9 : 137809657 - 137809657 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	428	66
FRYL	285527	broad.mit.edu	37	4	48548200	48548200	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:48548200G>A	ENST00000503238.1	-	39	5162	c.5163C>T	c.(5161-5163)agC>agT	p.S1721S	FRYL_ENST00000358350.4_Silent_p.S1721S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.S1721S|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1721					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATTTCCTAAGCTGATACTAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	4		NA											NA				48548200		1963	4147	6110	SO:0001819	synonymous_variant			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5163C>T	4.37:g.48548200G>A		NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	5.181	0.218941	0.09810	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.32	4.48	0.54585	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60000	-0.7348	4	.	.	.	.	10.6427	0.45602	0.0703:0.0:0.7972:0.1325	.	.	.	.	F	591	.	.	L	-	1	0	FRYL	48242957	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	1.974000	0.40559	1.223000	0.43536	0.557000	0.71058	CTT	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Silent	SNP	4 : 48548200 - 48548200 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	206	77
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	242	Substitution - Missense(242)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)											80	78	79			NA	NA	20		NA											NA				57484420		2203	4300	6503	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.2530C>T	20.37:g.57484420C>T	ENSP00000360141:p.Arg844Cys	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57484420 - 57484420 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	547	255
GPR125	166647	broad.mit.edu	37	4	22456513	22456513	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:22456513C>T	ENST00000334304.5	-	4	718	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R150Q	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	150					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTGAGTCCTCGAAATATGTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	119	123			NA	NA	4		NA											NA				22456513		2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.449G>A	4.37:g.22456513C>T	ENSP00000334952:p.Arg150Gln	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837213	0.16891	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	D;D	0.90069	-2.61;-2.61	6.06	6.06	0.98353	.	0.104924	0.64402	D	0.000008	T	0.76271	0.3964	N	0.17082	0.46	0.34165	D	0.669153	B;B;B	0.22746	0.012;0.039;0.074	B;B;B	0.18263	0.008;0.007;0.021	T	0.70368	-0.4891	10	0.02654	T	1	-19.8675	10.2103	0.43136	0.0:0.8198:0.0:0.1802	.	25;150;150	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	Q	150	ENSP00000334952:R150Q;ENSP00000421006:R150Q	ENSP00000334952:R150Q	R	-	2	0	GPR125	22065611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.921000	0.48852	2.880000	0.98712	0.650000	0.86243	CGA	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22456513 - 22456513 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	387	138
HBE1	3046	broad.mit.edu	37	11	5290746	5290746	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:5290746C>T	ENST00000380237.1	-	4	597	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	HBE1_ENST00000292896.2_Missense_Mutation_p.A85T|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	85					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A85S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGCAAAGGCGGGCTTGAGG	0.502		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)											144	131	135			NA	NA	11		NA											NA				5290746		2201	4297	6498	SO:0001583	missense			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931	3046	3046			4830	protein-coding gene	gene with protein product		142100			NA	2649166	Standard	NM_005330	NM_005330	NA	Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.253G>A	11.37:g.5290746C>T	ENSP00000369586:p.Ala85Thr	NA	Q6FH44	37	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.658425	0.00779	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.93076	-3.16;-3.16;-2.56	6.06	-9.41	0.00613	Globin-like (1);Globin, structural domain (1);	0.418121	0.22878	N	0.054541	T	0.73040	0.3536	N	0.01424	-0.875	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.65598	-0.6129	10	0.02654	T	1	-2.7134	15.0845	0.72142	0.0848:0.1209:0.0:0.7942	.	85	P02100	HBE_HUMAN	T	85	ENSP00000369586:A85T;ENSP00000292896:A85T;ENSP00000380104:A85T	ENSP00000292896:A85T	A	-	1	0	HBE1	5247322	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.074000	0.01375	-1.887000	0.01115	-1.795000	0.00624	GCC	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142973.2		-	ENST00000380237.1	Missense_Mutation	SNP	11 : 5290746 - 5290746 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	524	194
HCK	3055	broad.mit.edu	37	20	30681703	30681703	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:30681703A>G	ENST00000520553.1	+	11	1313	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	HCK_ENST00000375862.2_Missense_Mutation_p.Y376C|HCK_ENST00000538448.1_Missense_Mutation_p.Y356C|HCK_ENST00000534862.1_Missense_Mutation_p.Y357C|HCK_ENST00000518730.1_Missense_Mutation_p.Y355C|HCK_ENST00000375852.2_Missense_Mutation_p.Y377C	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	377	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAGGAACTACATCCACCGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	119	138			NA	NA	20		NA											NA				30681703		2203	4300	6503	SO:0001583	missense			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336	3055	3055		SH2 domain containing	4840	protein-coding gene	gene with protein product		142370	hemopoietic cell kinase		NA	3496523	Standard		NM_002110	NA	Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1067A>G	20.37:g.30681703A>G	ENSP00000429848:p.Tyr356Cys	NA	B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.908455	0.72868	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	4.87	3.71	0.42584	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.10551	0.0258	N	0.01493	-0.835	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.48246	-0.9052	10	0.87932	D	0	.	11.1423	0.48411	0.8463:0.1537:0.0:0.0	.	355;377	P08631-3;P08631	.;HCK_HUMAN	C	357;356;376;356;355;377	ENSP00000444986:Y357C;ENSP00000441169:Y356C;ENSP00000365022:Y376C;ENSP00000429848:Y356C;ENSP00000427757:Y355C;ENSP00000365012:Y377C	ENSP00000365012:Y377C	Y	+	2	0	HCK	30145364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.198000	0.77823	2.047000	0.60756	0.443000	0.29094	TAC	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375751.1		+	ENST00000520553.1	Missense_Mutation	SNP	20 : 30681703 - 30681703 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	287	45
HIATL1	84641	broad.mit.edu	37	9	97207438	97207438	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:97207438T>A	ENST00000375344.3	+	6	972	c.703T>A	c.(703-705)Tct>Act	p.S235T	HIATL1_ENST00000428393.2_Missense_Mutation_p.S170T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	235					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCTCAGATTTCTTGGAAACA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(77;1260 1915 1973 10423)							NA				0													34	34	34			NA	NA	9		NA											NA				97207438		2203	4300	6503	SO:0001583	missense			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110	84641	84641			23376	protein-coding gene	gene with protein product					NA		Standard	NM_032558	XM_005252277	NA	Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.703T>A	9.37:g.97207438T>A	ENSP00000364493:p.Ser235Thr	NA	Q3KQT4|Q53GU5|Q8WU95|Q96SM4	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409444	0.83340	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.48836	1.32;0.8	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.48767	D	0.000162	T	0.68586	0.3017	M	0.89840	3.065	0.80722	D	1	P;D	0.54207	0.549;0.965	B;P	0.61722	0.38;0.893	T	0.71185	-0.4667	10	0.30078	T	0.28	-9.607	11.9547	0.52974	0.0:0.0:0.0:1.0	.	170;235	B4DUE6;Q5SR56	.;HIAL1_HUMAN	T	235;170	ENSP00000364493:S235T;ENSP00000405909:S170T	ENSP00000364493:S235T	S	+	1	0	HIATL1	96247259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.827000	0.69300	1.996000	0.58369	0.533000	0.62120	TCT	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053184.1		+	ENST00000375344.3	Missense_Mutation	SNP	9 : 97207438 - 97207438 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	105	62
HOXC12	3228	broad.mit.edu	37	12	54348806	54348806	+	Silent	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:54348806G>T	ENST00000243103.3	+	1	189	c.93G>T	c.(91-93)gcG>gcT	p.A31A		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	31					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	38	35			NA	NA	12		NA											NA				54348806		2203	4300	6503	SO:0001819	synonymous_variant			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407	3228	3228		Homeoboxes / ANTP class : HOXL subclass	5124	protein-coding gene	gene with protein product		142975	homeo box C12	HOX3, HOX3F, HOC3F	NA	1973146, 1358459	Standard	NM_173860	NM_173860	NA	Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.93G>T	12.37:g.54348806G>T		NA	Q9BXJ6	37	CCDS8866.1																																																																																			HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358868.2		+	ENST00000243103.3	Silent	SNP	12 : 54348806 - 54348806 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	154	7
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	63			NA	NA	6		NA											NA				44220861		2203	4300	6503	SO:0001583	missense			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384	3326	3326		Heat shock proteins / HSPC	5258	protein-coding gene	gene with protein product		140572	heat shock 90kD protein 1, beta, heat shock 90kDa protein 1, beta	HSPC2, HSPCB	NA	2768249, 16269234	Standard	NM_007355	NM_001271969	NA	Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1811G>A	6.37:g.44220861G>A	ENSP00000360609:p.Arg604Gln	NA	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450487	0.96205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.51574	0.7;0.7;0.7	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.54159	0.1841	M	0.83953	2.67	0.80722	D	1	D;D;D	0.65815	0.995;0.989;0.989	P;P;P	0.50314	0.637;0.637;0.541	T	0.65076	-0.6256	10	0.62326	D	0.03	-11.7731	17.2754	0.87113	0.0:0.0:1.0:0.0	.	566;594;604	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Q	604	ENSP00000360709:R604Q;ENSP00000325875:R604Q;ENSP00000360609:R604Q	ENSP00000325875:R604Q	R	+	2	0	HSP90AB1	44328839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.816000	0.86201	2.265000	0.75225	0.508000	0.49915	CGG	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040730.1		+	ENST00000371554.1	Missense_Mutation	SNP	6 : 44220861 - 44220861 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	447	9
IMP3	55272	broad.mit.edu	37	15	75932236	75932236	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:75932236G>C	ENST00000314852.2	-	2	1217	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	IMP3_ENST00000403490.1_Missense_Mutation_p.R92G			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	92					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						AGCGAACCGCGCGTGGGCACC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	12	13			NA	NA	15		NA											NA				75932236		2162	4239	6401	SO:0001583	missense			AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971	55272	55272			14497	protein-coding gene	gene with protein product		612980	mitochondrial ribosomal protein S4, chromosome 15 open reading frame 12, IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	MRPS4, C15orf12	NA	11543634, 12655004	Standard	NM_018285	NM_018285	NA	Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.274C>G	15.37:g.75932236G>C	ENSP00000326981:p.Arg92Gly	NA	B3KQ67|Q53G10	37	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067359	0.55539	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	.	.	.	6.17	5.21	0.72293	.	0.188337	0.47455	D	0.000222	T	0.43500	0.1250	N	0.25380	0.74	0.43830	D	0.996405	B	0.09022	0.002	B	0.08055	0.003	T	0.23332	-1.0191	9	0.35671	T	0.21	-10.901	12.0554	0.53531	0.0:0.0:0.8285:0.1715	.	92	Q9NV31	IMP3_HUMAN	G	92	.	ENSP00000326981:R92G	R	-	1	0	IMP3	73719291	0.993000	0.37304	1.000000	0.80357	0.869000	0.49853	1.508000	0.35769	2.941000	0.99782	0.655000	0.94253	CGC	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286476.1		-	ENST00000314852.2	Missense_Mutation	SNP	15 : 75932236 - 75932236 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	103	6
ITPR2	3709	broad.mit.edu	37	12	26580903	26580903	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:26580903G>A	ENST00000381340.3	-	49	7304	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2296					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATATTGATCTGAGCATTATTG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	89	92			NA	NA	12		NA											NA				26580903		1832	4095	5927	SO:0001819	synonymous_variant			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	3709	3709		Ion channels / Inositol triphosphate receptors	6181	protein-coding gene	gene with protein product	cilia and flagella associated protein 48	600144	inositol 1,4,5-triphosphate receptor, type 2		NA	8081734	Standard	NM_002223	XM_006719064	NA	Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6888C>T	12.37:g.26580903G>A		NA	O94773	37	CCDS41764.1																																																																																			ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402732.1		-	ENST00000381340.3	Silent	SNP	12 : 26580903 - 26580903 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	445	49
KATNB1	10300	broad.mit.edu	37	16	57787404	57787404	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:57787404G>A	ENST00000379661.3	+	12	1542	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	384	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	p.E384K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGACTACAACGAGATCTTCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											56	62	60			NA	NA	16		NA											NA				57787404		2197	4300	6497	SO:0001583	missense			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854	10300	10300		WD repeat domain containing	6217	protein-coding gene	gene with protein product		602703	katanin p80 (WD40-containing) subunit B 1		NA	9568719	Standard		XM_006721121	NA	Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1150G>A	16.37:g.57787404G>A	ENSP00000368982:p.Glu384Lys	NA	A6NCG6|O60620	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450247	0.96205	.	.	ENSG00000140854	ENST00000379661	T	0.55052	0.54	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.52309	0.695	T	0.63773	-0.6561	10	0.49607	T	0.09	0.0245	17.9519	0.89056	0.0:0.0:1.0:0.0	.	384	Q9BVA0	KTNB1_HUMAN	K	384	ENSP00000368982:E384K	ENSP00000368982:E384K	E	+	1	0	KATNB1	56344905	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.062000	0.89475	2.477000	0.83638	0.591000	0.81541	GAG	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257343.3		+	ENST00000379661.3	Missense_Mutation	SNP	16 : 57787404 - 57787404 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	310	74
KBTBD12	166348	broad.mit.edu	37	3	127642283	127642283	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:127642283C>A	ENST00000343941.4	+	0	28				KBTBD12_ENST00000405109.1_Missense_Mutation_p.H127N|KBTBD12_ENST00000405256.1_Missense_Mutation_p.H127N|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	NA										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGATGGACCACATGGATGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	3		NA											NA				127642283		1901	4118	6019	SO:0001623	5_prime_UTR_variant				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715	166348	166348		BTB/POZ domain containing	25731	protein-coding gene	gene with protein product			kelch domain containing 6	KLHDC6	NA		Standard	NM_207335	NM_207335	NA	Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000343941.4:c.-113C>A	3.37:g.127642283C>A		NA	B5MCC6|Q6ZRK1	37		.	.	.	.	.	.	.	.	.	.	C	11.29	1.595808	0.28445	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.73258	-0.73;-0.73	5.75	5.75	0.90469	BTB/POZ-like (1);BTB/POZ fold (2);	.	.	.	.	T	0.56499	0.1989	N	0.05619	-0.005	0.41082	D	0.985534	B	0.14438	0.01	B	0.15870	0.014	T	0.53294	-0.8459	9	0.56958	D	0.05	.	19.9569	0.97222	0.0:1.0:0.0:0.0	.	127	Q3ZCT8	KBTBC_HUMAN	N	127	ENSP00000385957:H127N;ENSP00000385879:H127N	ENSP00000385957:H127N	H	+	1	0	KBTBD12	129124973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.717000	0.61923	2.729000	0.93468	0.460000	0.39030	CAC	KBTBD12-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318678.1		+	ENST00000343941.4	5'UTR	SNP	3 : 127642283 - 127642283 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	119	31
KCNH8	131096	broad.mit.edu	37	3	19575468	19575468	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:19575468C>T	ENST00000328405.2	+	16	3467	c.3201C>T	c.(3199-3201)aaC>aaT	p.N1067N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1067						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTCTGGAAAACTTACCAGGAT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(124;1625 1765 8018 24930 42026)							NA				0													60	58	59			NA	NA	3		NA											NA				19575468		2203	4300	6503	SO:0001819	synonymous_variant			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960	131096	131096		Potassium channels, Voltage-gated ion channels / Potassium channels	18864	protein-coding gene	gene with protein product		608260			NA	16382104	Standard	NM_144633	NM_144633	NA	Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3201C>T	3.37:g.19575468C>T		NA	Q59GQ6	37	CCDS2632.1																																																																																			KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252139.2		+	ENST00000328405.2	Silent	SNP	3 : 19575468 - 19575468 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	409	12
KIAA0513	9764	broad.mit.edu	37	16	85109479	85109479	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:85109479C>T	ENST00000566428.1	+	5	1164	c.533C>T	c.(532-534)gCc>gTc	p.A178V	KIAA0513_ENST00000567328.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A178V			O60268	K0513_HUMAN	KIAA0513	178						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TTTGGGCCTGCCAAGAACCTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	153	177			NA	NA	16		NA											NA				85109479		2198	4300	6498	SO:0001583	missense			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709	9764	9764			29058	protein-coding gene	gene with protein product		611675			NA	9628581	Standard	NM_014732	XM_005256265	NA	Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.533C>T	16.37:g.85109479C>T	ENSP00000457408:p.Ala178Val	NA	D3DUM2|Q8N6G0	37	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142126	0.94560	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.36520	1.25;1.25	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.67945	-0.5539	10	0.87932	D	0	-11.0427	16.9234	0.86168	0.0:1.0:0.0:0.0	.	178;178	B4DSS5;O60268	.;K0513_HUMAN	V	178	ENSP00000446439:A178V;ENSP00000258180:A178V	ENSP00000258180:A178V	A	+	2	0	KIAA0513	83666980	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.794000	0.75135	2.339000	0.79563	0.561000	0.74099	GCC	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432736.1		+	ENST00000566428.1	Missense_Mutation	SNP	16 : 85109479 - 85109479 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	173	7
KRT6A	3853	broad.mit.edu	37	12	52884454	52884454	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:52884454G>A	ENST00000330722.6	-	5	1044	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	326	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGGTTGCGGTTGTTGTCC	0.537		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	164	149	154		976	5.5	1	12		154	0,8600		0,0,4300	no	missense	KRT6A	NM_005554.3	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	326/565	52884454	1,13005	2203	4300	6503	SO:0001583	missense			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420	3853	3853		-, Intermediate filaments type II, keratins (basic)	6443	protein-coding gene	gene with protein product		148041	keratin 6C, keratin 6D	KRT6C, KRT6D	NA	1713141, 16831889	Standard	NM_005554	NM_005554	NA	Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.976C>T	12.37:g.52884454G>A	ENSP00000369317:p.Arg326Cys	NA	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.682436	0.88542	2.27E-4	0.0	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.76060	-0.99	5.47	5.47	0.80525	Filament (1);	0.000000	0.64402	D	0.000014	D	0.87613	0.6221	M	0.91920	3.255	0.80722	D	1	D	0.61080	0.989	P	0.61533	0.89	D	0.89808	0.3980	10	0.72032	D	0.01	.	15.3911	0.74744	0.0:0.0:0.8601:0.1399	.	326	P02538	K2C6A_HUMAN	C	326;282	ENSP00000369317:R326C	ENSP00000369317:R326C	R	-	1	0	KRT6A	51170721	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.418000	0.59828	2.764000	0.94973	0.556000	0.70494	CGC	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404978.2		-	ENST00000330722.6	Missense_Mutation	SNP	12 : 52884454 - 52884454 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	635	124
LPHN1	22859	broad.mit.edu	37	19	14274079	14274079	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:14274079G>A	ENST00000340736.6	-	6	846	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.R178R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	183	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTGTCCGTGCGGTAGGGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	67	75			NA	NA	19		NA											NA				14274079		2203	4300	6503	SO:0001819	synonymous_variant			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071	22859	22859		-, GPCR / Class B : Orphans	20973	protein-coding gene	gene with protein product					NA	10994649	Standard	NM_014921	NM_014921	NA	Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.549C>T	19.37:g.14274079G>A		NA	Q96IE7|Q9BU07|Q9HAR3	37	CCDS32928.1																																																																																			LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459696.1		-	ENST00000340736.6	Silent	SNP	19 : 14274079 - 14274079 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	220	9
LRRK2	120892	broad.mit.edu	37	12	40704299	40704299	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:40704299C>T	ENST00000298910.7	+	31	4442	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1462	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAGAAGCAACGCAAAGCCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	145	147			NA	NA	12		NA											NA				40704299		2203	4300	6503	SO:0001583	missense			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4384C>T	12.37:g.40704299C>T	ENSP00000298910:p.Arg1462Cys	NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907198	0.72868	.	.	ENSG00000188906	ENST00000298910	T	0.80653	-1.4	5.63	4.73	0.59995	ROC GTPase (1);Small GTP-binding protein domain (1);	0.182649	0.49916	D	0.000136	T	0.75810	0.3900	L	0.49778	1.585	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	B;B	0.41440	0.282;0.357	T	0.79381	-0.1827	10	0.52906	T	0.07	.	14.9416	0.70997	0.0:0.9302:0.0:0.0698	.	1462;1462	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1462	ENSP00000298910:R1462C	ENSP00000298910:R1462C	R	+	1	0	LRRK2	38990566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.391000	0.52530	2.653000	0.90120	0.650000	0.86243	CGC	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Missense_Mutation	SNP	12 : 40704299 - 40704299 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	657	120
MDM1	56890	broad.mit.edu	37	12	68707443	68707443	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:68707443A>C	ENST00000540418.1	-	9	1265	c.750T>G	c.(748-750)gaT>gaG	p.D250E	MDM1_ENST00000411698.2_Missense_Mutation_p.D495E|MDM1_ENST00000303145.7_Missense_Mutation_p.D530E			Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	530						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTAGTGAGATCATGATGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	111	111			NA	NA	12		NA											NA				68707443		2203	4300	6503	SO:0001583	missense			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554	56890	56890			29917	protein-coding gene	gene with protein product		613813	Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)		NA	8619474, 9110174	Standard	NM_020128	NM_017440	NA	Approved		uc001stz.2	Q8TC05		ENST00000540418.1:c.750T>G	12.37:g.68707443A>C	ENSP00000443815:p.Asp250Glu	NA	O43406|Q8WTV9|Q9NR04	37		.	.	.	.	.	.	.	.	.	.	A	19.00	3.742885	0.69418	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.27104	1.69;1.69;1.69	4.98	-1.7	0.08159	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.32666	-0.9898	9	.	.	.	-21.6311	11.011	0.47663	0.5487:0.0:0.4513:0.0	.	495;530	E7EPQ3;Q8TC05	.;MDM1_HUMAN	E	250;530;495	ENSP00000443815:D250E;ENSP00000302537:D530E;ENSP00000391006:D495E	.	D	-	3	2	MDM1	66993710	0.980000	0.34600	0.890000	0.34922	0.973000	0.67179	0.181000	0.16880	-0.489000	0.06716	0.397000	0.26171	GAT	MDM1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402401.1		-	ENST00000540418.1	Missense_Mutation	SNP	12 : 68707443 - 68707443 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	695	472
MGA	23269	broad.mit.edu	37	15	42059147	42059147	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:42059147C>G	ENST00000570161.1	+	23	8867	c.8867C>G	c.(8866-8868)gCa>gGa	p.A2956G	MGA_ENST00000566586.1_Missense_Mutation_p.A2747G|MGA_ENST00000389936.4_Missense_Mutation_p.A2917G|MGA_ENST00000545763.1_Missense_Mutation_p.A2747G|MGA_ENST00000219905.7_Missense_Mutation_p.A2956G			Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2917						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCCTCCCTGCAGAGCCCGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	15		NA											NA				42059147		1925	4124	6049	SO:0001583	missense			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197	23269	23269		MAX dimerization proteins, T-boxes	14010	protein-coding gene	gene with protein product			MAX gene associated		NA		Standard	NM_001164273.1	NM_001080541	NA	Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8867C>G	15.37:g.42059147C>G	ENSP00000457035:p.Ala2956Gly	NA	Q9H8R3|Q9H9N7|Q9UG69|Q9Y4E9	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050195	0.36181	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87256	-2.2;-2.21;-2.23	5.65	4.73	0.59995	.	0.271725	0.25419	N	0.030809	T	0.79747	0.4499	L	0.27053	0.805	0.23806	N	0.996797	P;P	0.39480	0.675;0.546	B;B	0.35550	0.205;0.101	T	0.74884	-0.3512	10	0.87932	D	0	.	14.5098	0.67776	0.0:0.9306:0.0:0.0694	.	2747;2956	F5H7K2;E7ENI0	.;.	G	2956;2917;2747	ENSP00000219905:A2956G;ENSP00000374586:A2917G;ENSP00000442467:A2747G	ENSP00000219905:A2956G	A	+	2	0	MGA	39846439	0.401000	0.25303	0.999000	0.59377	0.915000	0.54546	0.849000	0.27723	1.631000	0.50456	0.655000	0.94253	GCA	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420229.1		+	ENST00000570161.1	Missense_Mutation	SNP	15 : 42059147 - 42059147 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	148	13
MYO10	4651	broad.mit.edu	37	5	16676227	16676227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:16676227delA	ENST00000513610.1	-	34	5033	c.4579delT	c.(4579-4581)tacfs	p.Y1527fs	MYO10_ENST00000515803.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.Y884fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.Y884fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1527					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCGCTTGTAAATCTGTTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	160	156			NA	NA	5		NA											NA				16676227		1947	4139	6086	SO:0001589	frameshift_variant			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4579delT	5.37:g.16676227delA	ENSP00000421280:p.Tyr1527fs	NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1																																																																																			MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Frame_Shift_Del	DEL	5 : 16676227 - 16676227 - PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	381	145
MYO15A	51168	broad.mit.edu	37	17	18025706	18025706	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18025706C>T	ENST00000205890.5	+	2	3930	c.3592C>T	c.(3592-3594)Cca>Tca	p.P1198S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1198	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCGGCCCGCCAAGCTGGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	37	35			NA	NA	17		NA											NA				18025706		1988	4147	6135	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3592C>T	17.37:g.18025706C>T	ENSP00000205890:p.Pro1198Ser	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	7.775	0.708317	0.15239	.	.	ENSG00000091536	ENST00000205890	D	0.86694	-2.16	5.22	-3.82	0.04281	.	.	.	.	.	T	0.70491	0.3230	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.56390	-0.7987	9	0.10111	T	0.7	.	9.0973	0.36647	0.3032:0.5904:0.1064:0.0	.	1198	Q9UKN7	MYO15_HUMAN	S	1198	ENSP00000205890:P1198S	ENSP00000205890:P1198S	P	+	1	0	MYO15A	17966431	0.000000	0.05858	0.004000	0.12327	0.037000	0.13140	-0.472000	0.06623	-0.592000	0.05851	-1.344000	0.01245	CCA	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18025706 - 18025706 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	179	43
MYO3B	140469	broad.mit.edu	37	2	171242714	171242714	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:171242714G>A	ENST00000408978.4	+	13	1449	c.1306G>A	c.(1306-1308)Gga>Aga	p.G436R	MYO3B_ENST00000409044.3_Missense_Mutation_p.G436R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.G445R	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	436	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTCATCAGCGGAGAGAGTGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	114	116			NA	NA	2		NA											NA				171242714		1945	4147	6092	SO:0001583	missense				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909	140469	140469		Myosins / Myosin superfamily : Class III	15576	protein-coding gene	gene with protein product		610040			NA		Standard		NM_001083615	NA	Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1306G>A	2.37:g.171242714G>A	ENSP00000386213:p.Gly436Arg	NA	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845552	0.91197	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0	5.45	5.45	0.79879	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98936	1.0789	10	0.87932	D	0	.	19.6555	0.95837	0.0:0.0:1.0:0.0	.	436;436;436	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	R	436;436;435;445;445	ENSP00000386497:G436R;ENSP00000386213:G436R;ENSP00000446237:G445R;ENSP00000335100:G445R	ENSP00000314213:G435R	G	+	1	0	MYO3B	170950960	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	9.813000	0.99286	2.725000	0.93324	0.655000	0.94253	GGA	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333410.1		+	ENST00000408978.4	Missense_Mutation	SNP	2 : 171242714 - 171242714 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	102	90
MYRIP	25924	broad.mit.edu	37	3	40208373	40208373	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:40208373G>A	ENST00000302541.6	+	6	929	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	MYRIP_ENST00000396217.3_Missense_Mutation_p.R107Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R9Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R196Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	196	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.R196L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTGGCCCTACGGGTGGCTGAA	0.517		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - Missense(1)	lung(1)											82	79	80			NA	NA	3		NA											NA				40208373		2203	4300	6503	SO:0001583	missense			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011	25924	25924		A-kinase anchor proteins	19156	protein-coding gene	gene with protein product	synaptotagmin-like protein homologue lacking C2 domains-c, rab effector MYRIP, Slp homologue lacking C2 domains	611790			NA	11964381, 12221080	Standard	NM_015460	NM_001284425	NA	Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.587G>A	3.37:g.40208373G>A	ENSP00000301972:p.Arg196Gln	NA	Q569F7|Q8IUF5|Q9Y3V4	37	CCDS2689.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.08	3.296594	0.60086	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.53	3.65	0.41850	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.64402	D	0.000001	T	0.27559	0.0677	L	0.33485	1.01	0.39341	D	0.965581	D;P;P	0.57257	0.979;0.545;0.728	P;B;B	0.47891	0.56;0.027;0.082	T	0.03818	-1.1001	9	.	.	.	.	10.991	0.47549	0.0937:0.0:0.9063:0.0	.	107;196;196	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	196;196;196;107;9	ENSP00000398665:R196Q;ENSP00000301972:R196Q;ENSP00000389323:R196Q;ENSP00000379519:R107Q;ENSP00000438297:R9Q	.	R	+	2	0	MYRIP	40183377	1.000000	0.71417	0.092000	0.20876	0.979000	0.70002	6.257000	0.72480	1.231000	0.43661	0.555000	0.69702	CGG	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254181.2		+	ENST00000302541.6	Missense_Mutation	SNP	3 : 40208373 - 40208373 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	350	56
NBEA	26960	broad.mit.edu	37	13	35630161	35630161	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:35630161C>T	ENST00000379939.2	+	7	1148	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000540320.1_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S|NBEA_ENST00000400445.3_Silent_p.S329S			Q8NFP9	NBEA_HUMAN	neurobeachin	329						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	143	148			NA	NA	13		NA											NA				35630161		1848	4085	5933	SO:0001819	synonymous_variant			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915	26960	26960		A-kinase anchor proteins, WD repeat domain containing	7648	protein-coding gene	gene with protein product		604889			NA	10501977	Standard	NM_015678	NM_015678	NA	Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000379939.2:c.987C>T	13.37:g.35630161C>T		NA	Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	37																																																																																				NBEA-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044460.1		+	ENST00000379939.2	Silent	SNP	13 : 35630161 - 35630161 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	225	7
NCOR2	9612	broad.mit.edu	37	12	124825185	124825185	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124825185G>A	ENST00000405201.1	-	35	5301	c.5301C>T	c.(5299-5301)ccC>ccT	p.P1767P	NCOR2_ENST00000356219.3_Silent_p.P1774P|NCOR2_ENST00000397355.1_Silent_p.P1758P|NCOR2_ENST00000404621.1_Silent_p.P1757P|NCOR2_ENST00000429285.2_Silent_p.P1757P|NCOR2_ENST00000404121.2_Silent_p.P1328P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1775					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCTGCTGAAGGGCTGGGGCG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	18	16			NA	NA	12		NA											NA				124825185		1994	4131	6125	SO:0001819	synonymous_variant			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498	9612	9612			7673	protein-coding gene	gene with protein product		600848	nuclear receptor co-repressor 2		NA	7566127, 8813722	Standard	NM_006312	NM_001077261	NA	Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5301C>T	12.37:g.124825185G>A		NA	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214083	0.22289	.	.	ENSG00000196498	ENST00000453428	.	.	.	4.13	1.18	0.20946	.	.	.	.	.	T	0.55970	0.1954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-8.7802	8.8098	0.34961	0.3199:0.0:0.6801:0.0	.	.	.	.	F	97	.	.	L	-	1	0	NCOR2	123391138	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.065000	0.30592	0.730000	0.32425	-0.339000	0.08088	CTT	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318173.2		-	ENST00000405201.1	Silent	SNP	12 : 124825185 - 124825185 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	51	15
NELFCD	51497	broad.mit.edu	37	20	57564956	57564956	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57564956C>T	ENST00000602795.1	+	7	803	c.755C>T	c.(754-756)gCc>gTc	p.A252V	NELFCD_ENST00000344018.3_Missense_Mutation_p.A243V	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D	NA											NA						TTTGCCCAGGCCATGATGTCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	57	61			NA	NA	20		NA											NA				57564956		2203	4300	6503	SO:0001583	missense			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158	51497	51497			15934	protein-coding gene	gene with protein product	trihydrophobin 1	605297	TH1-like (Drosophila homolog), TH1-like (Drosophila)	TH1L	NA	11030415, 11042152	Standard	NM_198976	NM_198976	NA	Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000602795.1:c.755C>T	20.37:g.57564956C>T	ENSP00000473290:p.Ala252Val	NA		37	CCDS13473.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180243	0.38511	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.116232	0.64402	D	0.000015	T	0.21186	0.0510	N	0.01197	-0.965	0.44366	D	0.997269	P;B	0.35468	0.503;0.284	B;B	0.34093	0.175;0.124	T	0.29212	-1.0019	9	0.10377	T	0.69	-20.4793	18.0843	0.89453	0.0:1.0:0.0:0.0	.	252;243	E1P5H4;Q8IXH7	.;NELFD_HUMAN	V	243	.	ENSP00000342300:A243V	A	+	2	0	TH1L	56998351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.717000	0.92951	0.655000	0.94253	GCC	NELFCD-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079909.3		+	ENST00000602795.1	Missense_Mutation	SNP	20 : 57564956 - 57564956 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	348	87
NLRP13	126204	broad.mit.edu	37	19	56424179	56424179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:56424179C>A	ENST00000588751.1	-	5	1028	c.1004G>T	c.(1003-1005)tGg>tTg	p.W335L	NLRP13_ENST00000342929.3_Missense_Mutation_p.W335L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	335	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCCTGGTACCAGTCTGTACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	89			NA	NA	19		NA											NA				56424179		2203	4300	6503	SO:0001583	missense			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572	126204	126204		Nucleotide-binding domain and leucine rich repeat containing	22937	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13	609660	NACHT, leucine rich repeat and PYD containing 13	NALP13	NA	12563287	Standard	NM_176810	NM_176810	NA	Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000588751.1:c.1004G>T	19.37:g.56424179C>A	ENSP00000467899:p.Trp335Leu	NA	Q7RTR5	37		.	.	.	.	.	.	.	.	.	.	C	12.78	2.039074	0.35989	.	.	ENSG00000173572	ENST00000342929	T	0.73152	-0.72	2.81	1.73	0.24493	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.78898	0.4356	M	0.66439	2.03	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64162	-0.6472	9	0.54805	T	0.06	.	6.3364	0.21298	0.0:0.8427:0.0:0.1573	.	335	Q86W25	NAL13_HUMAN	L	335	ENSP00000343891:W335L	ENSP00000343891:W335L	W	-	2	0	NLRP13	61115991	0.004000	0.15560	0.012000	0.15200	0.040000	0.13550	0.727000	0.25999	0.488000	0.27723	0.591000	0.81541	TGG	NLRP13-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000457461.1		-	ENST00000588751.1	Missense_Mutation	SNP	19 : 56424179 - 56424179 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	531	180
OR8B8	26493	broad.mit.edu	37	11	124310146	124310146	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:124310146G>T	ENST00000328064.2	-	1	908	c.836C>A	c.(835-837)aCc>aAc	p.T279N		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACCACAGTGGTATAGAATAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	88	91			NA	NA	11		NA											NA				124310146		2201	4299	6500	SO:0001583	missense			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125	26493	26493		GPCR / Class A : Olfactory receptors	8477	protein-coding gene	gene with protein product					NA	9119360	Standard	NM_012378	NM_012378	NA	Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.836C>A	11.37:g.124310146G>T	ENSP00000330280:p.Thr279Asn	NA	A1L446|Q96RC8	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993271	0.35131	.	.	ENSG00000197125	ENST00000328064	T	0.00267	8.38	3.81	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.139278	0.32593	N	0.005882	T	0.00580	0.0019	M	0.90705	3.14	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.23868	-1.0176	10	0.72032	D	0.01	.	10.0677	0.42315	0.171:0.0:0.829:0.0	.	279	Q15620	OR8B8_HUMAN	N	279	ENSP00000330280:T279N	ENSP00000330280:T279N	T	-	2	0	OR8B8	123815356	0.004000	0.15560	0.581000	0.28614	0.718000	0.41266	1.495000	0.35627	0.588000	0.29660	0.655000	0.94253	ACC	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387056.1		-	ENST00000328064.2	Missense_Mutation	SNP	11 : 124310146 - 124310146 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	277	30
OTOP3	347741	broad.mit.edu	37	17	72943312	72943312	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72943312G>A	ENST00000328801.4	+	6	1362	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	454						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)					TGGCCTACTCGCTGCTGCTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	50			NA	NA	17		NA											NA				72943312		2203	4300	6503	SO:0001819	synonymous_variant			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.1362G>A	17.37:g.72943312G>A		NA		37	CCDS11709.1																																																																																			OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445308.1		+	ENST00000328801.4	Silent	SNP	17 : 72943312 - 72943312 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	164	31
PCDHA9	9752	broad.mit.edu	37	5	140230505	140230505	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:140230505A>G	ENST00000532602.1	+	1	3427				PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.I809V|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			atttatttatataattttttt	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													28	31	30			NA	NA	5		NA											NA				140230505		1967	4141	6108	SO:0001627	intron_variant			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+31A>G	5.37:g.140230505A>G		NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	0.114	-1.134083	0.01742	.	.	ENSG00000204961	ENST00000378122	T	0.49432	0.78	2.77	-5.54	0.02544	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	8	0.17369	T	0.5	.	4.631	0.12502	0.2713:0.0:0.4333:0.2954	.	809	Q9Y5H5-2	.	V	809	ENSP00000367362:I809V	ENSP00000367362:I809V	I	+	1	0	PCDHA9	140210689	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.028000	0.03589	-1.835000	0.01191	0.358000	0.22013	ATA	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Intron	SNP	5 : 140230505 - 140230505 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	316	13
PCDHA9	9752	broad.mit.edu	37	5	140230517	140230517	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:140230517C>G	ENST00000532602.1	+	1	3427				PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L813V|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aattttttttCTTGAAAGATA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													38	43	41			NA	NA	5		NA											NA				140230517		1994	4159	6153	SO:0001627	intron_variant			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+43C>G	5.37:g.140230517C>G		NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147184	0.21288	.	.	ENSG00000204961	ENST00000378122	T	0.54479	0.57	3.49	-2.69	0.06022	.	.	.	.	.	T	0.24431	0.0592	.	.	.	0.09310	N	1	B	0.27732	0.187	B	0.25140	0.058	T	0.23797	-1.0178	8	0.11182	T	0.66	.	4.4522	0.11626	0.155:0.1892:0.0:0.6558	.	813	Q9Y5H5-2	.	V	813	ENSP00000367362:L813V	ENSP00000367362:L813V	L	+	1	0	PCDHA9	140210701	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	-2.945000	0.00681	-0.158000	0.11040	0.436000	0.28706	CTT	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Intron	SNP	5 : 140230517 - 140230517 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	363	12
PEG3	5178	broad.mit.edu	37	19	57327021	57327021	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:57327021C>T	ENST00000326441.9	-	10	3152	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	PEG3_ENST00000423103.2_Missense_Mutation_p.R930H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R806H|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R804H|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	930					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGGTATTCACGGACATTTGA	0.448		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	4e-04	0.8999	EXOME	NA	NA	1e-04	SNP								NA				0													124	122	123			NA	NA	19		NA											NA				57327021		2203	4300	6503	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2789G>A	19.37:g.57327021C>T	ENSP00000326581:p.Arg930His	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.79	2.938484	0.52972	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	3.99	2.94	0.34122	.	0.300365	0.24549	N	0.037576	T	0.08935	0.0221	M	0.68593	2.085	.	.	.	P;D;D	0.89917	0.707;1.0;1.0	B;D;D	0.71414	0.103;0.97;0.973	T	0.15350	-1.0440	9	0.27082	T	0.32	-13.9383	5.6294	0.17501	0.0:0.6903:0.2033:0.1064	.	806;930;865	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	930	ENSP00000326581:R930H;ENSP00000403051:R930H	ENSP00000326581:R930H	R	-	2	0	ZIM2	62018833	0.000000	0.05858	0.631000	0.29282	0.969000	0.65631	-1.005000	0.03674	1.254000	0.44035	0.655000	0.94253	CGT	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57327021 - 57327021 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	704	215
PGAP3	93210	broad.mit.edu	37	17	37842226	37842226	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:37842226G>A	ENST00000579146.1	-	2	270	c.228C>T	c.(226-228)acC>acT	p.T76T	PGAP3_ENST00000429199.2_Silent_p.T76T|PGAP3_ENST00000300658.4_Silent_p.T76T|PGAP3_ENST00000378011.4_Silent_p.T76T			Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						AGAGCCCAACGGTGACCCACA	0.537		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	9e-04	SNP								NA				0													161	105	124			NA	NA	17		NA											NA				37842226		2203	4300	6503	SO:0001819	synonymous_variant			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395	93210	93210			23719	protein-coding gene	gene with protein product	post-GPI attachment to proteins 3	611801	per1-like domain containing 1	PERLD1	NA	15010812, 17021251, 17314402	Standard	NM_033419	NM_001291728	NA	Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000579146.1:c.228C>T	17.37:g.37842226G>A		NA	Q86Z03|Q8NBJ8	37																																																																																				PGAP3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444826.1		-	ENST00000579146.1	Silent	SNP	17 : 37842226 - 37842226 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	151	30
PLD3	23646	broad.mit.edu	37	19	40883778	40883778	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:40883778G>A	ENST00000409587.1	+	12	1668	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	PLD3_ENST00000409735.4_Missense_Mutation_p.R424H|PLD3_ENST00000409419.1_Missense_Mutation_p.R424H|PLD3_ENST00000356508.5_Missense_Mutation_p.R424H|PLD3_ENST00000409281.1_Missense_Mutation_p.R424H			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	424	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GTGACTGAACGCGCCACCTAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	58	64			NA	NA	19		NA											NA				40883778		2203	4300	6503	SO:0001583	missense			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223	23646	23646			17158	protein-coding gene	gene with protein product		615698	phospholipase D3		NA	9140189, 15794758	Standard	NM_012268	XM_005258704	NA	Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1271G>A	19.37:g.40883778G>A	ENSP00000387050:p.Arg424His	NA	Q92853|Q9BW87	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637902	0.67130	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000409735;ENST00000409281	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.32	4.28	0.50868	Phospholipase D/Transphosphatidylase (2);	0.107847	0.64402	D	0.000013	T	0.55800	0.1943	M	0.69358	2.11	0.43824	D	0.996399	D	0.71674	0.998	P	0.58210	0.835	T	0.60326	-0.7285	10	0.66056	D	0.02	-16.2681	12.271	0.54706	0.0833:0.0:0.9167:0.0	.	424	Q8IV08	PLD3_HUMAN	H	424	ENSP00000386293:R424H;ENSP00000387050:R424H;ENSP00000348901:R424H;ENSP00000386938:R424H;ENSP00000387022:R424H	ENSP00000348901:R424H	R	+	2	0	PLD3	45575618	0.863000	0.29885	0.789000	0.31954	0.659000	0.38960	2.456000	0.44997	1.364000	0.46038	0.655000	0.94253	CGC	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327721.1		+	ENST00000409587.1	Missense_Mutation	SNP	19 : 40883778 - 40883778 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	157	32
PLXNB1	5364	broad.mit.edu	37	3	48452387	48452387	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48452387A>C	ENST00000358536.4	-	29	5575	c.5306T>G	c.(5305-5307)gTg>gGg	p.V1769G	PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1586G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V380G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1586G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1769G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1769					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGGACCTTCACGGGCACGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	56	58			NA	NA	3		NA											NA				48452387		2202	4300	6502	SO:0001583	missense			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050	5364	5364		Plexins	9103	protein-coding gene	gene with protein product		601053		PLXN5	NA	8570614, 11035813	Standard	NM_002673	XM_005265234	NA	Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5306T>G	3.37:g.48452387A>C	ENSP00000351338:p.Val1769Gly	NA	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767802	0.69878	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.97	4.97	0.65823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.268971	0.36932	N	0.002337	T	0.45756	0.1358	M	0.90082	3.085	0.80722	D	1	P;D	0.59357	0.885;0.985	D;D	0.76575	0.97;0.988	T	0.52139	-0.8615	10	0.87932	D	0	.	8.4434	0.32828	0.9023:0.0:0.0977:0.0	.	1769;1586	O43157;O43157-2	PLXB1_HUMAN;.	G	1769;1586;1769;380;1586	ENSP00000296440:V1769G;ENSP00000351242:V1586G;ENSP00000351338:V1769G;ENSP00000389320:V380G;ENSP00000414199:V1586G	ENSP00000296440:V1769G	V	-	2	0	PLXNB1	48427391	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	5.895000	0.69814	1.851000	0.53745	0.533000	0.62120	GTG	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344454.1		-	ENST00000358536.4	Missense_Mutation	SNP	3 : 48452387 - 48452387 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	137	18
PPP1R3C	5507	broad.mit.edu	37	10	93389816	93389816	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:93389816G>A	ENST00000238994.5	-	2	906	c.822C>T	c.(820-822)gaC>gaT	p.D274D		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	274							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGAATGCACAGTCCTGGGGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	97	99			NA	NA	10		NA											NA				93389816		2203	4300	6503	SO:0001819	synonymous_variant			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938	5507	5507		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9293	protein-coding gene	gene with protein product	Phosphatase 1, regulatory inhibitor subunit 5, protein targeting to glycogen	602999	protein phosphatase 1, regulatory (inhibitor) subunit 3C	PPP1R5	NA	8985175	Standard	NM_005398	NM_005398	NA	Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.822C>T	10.37:g.93389816G>A		NA	B2R7X0|O95686	37	CCDS7416.1																																																																																			PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049372.1		-	ENST00000238994.5	Silent	SNP	10 : 93389816 - 93389816 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	363	80
PPP1R9A	55607	broad.mit.edu	37	7	94879384	94879384	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:94879384C>A	ENST00000433360.1	+	10	2495	c.2213C>A	c.(2212-2214)aCc>aAc	p.T738N	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T716N|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T716N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T716N	NM_001166160.1	NP_001159632.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	716	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGAAAAAACCCAACTCCAA	0.413		NA								HNSCC(28;0.073)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	69	70			NA	NA	7		NA											NA				94879384		2203	4300	6503	SO:0001583	missense			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528	55607	55607		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Sterile alpha motif (SAM) domain containing	14946	protein-coding gene	gene with protein product		602468	protein phosphatase 1, regulatory (inhibitor) subunit 9A		NA	10574462	Standard	NM_001166160	NM_001166160	NA	Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433360.1:c.2213C>A	7.37:g.94879384C>A	ENSP00000405514:p.Thr738Asn	NA	O76059|Q9NXT2	37	CCDS55127.1	.	.	.	.	.	.	.	.	.	.	C	6.029	0.373646	0.11409	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14144	2.53;2.55;2.55;2.55;2.56;2.55	5.04	-1.71	0.08133	.	0.554218	0.19398	N	0.115259	T	0.11750	0.0286	L	0.38531	1.155	0.31019	N	0.718376	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001	B;B;B;B;B	0.10450	0.001;0.005;0.003;0.001;0.001	T	0.11060	-1.0603	10	0.30078	T	0.28	.	17.7997	0.88583	0.685:0.315:0.0:0.0	.	716;716;738;716;716	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	738;716;716;716;716;716	ENSP00000405514:T738N;ENSP00000344524:T716N;ENSP00000411342:T716N;ENSP00000398870:T716N;ENSP00000289495:T716N;ENSP00000402893:T716N	ENSP00000289495:T716N	T	+	2	0	PPP1R9A	94717320	0.019000	0.18553	0.813000	0.32504	0.097000	0.18754	-0.084000	0.11268	-0.333000	0.08476	0.655000	0.94253	ACC	PPP1R9A-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340664.1		+	ENST00000433360.1	Missense_Mutation	SNP	7 : 94879384 - 94879384 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	120	37
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											182	150	161			NA	NA	19		NA											NA				55710122		2203	4300	6503	SO:0001583	missense				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031	5794	5794		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9672	protein-coding gene	gene with protein product		602510			NA	8294459	Standard		XM_006723312	NA	Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1579G>T	19.37:g.55710122C>A	ENSP00000365528:p.Gly527Cys	NA	Q15426|Q2NKN9|Q2NKP0	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886213	0.33348	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.59638	0.25;0.25	2.49	2.49	0.30216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52240	0.1722	N	0.08118	0	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.99	D;P;D	0.66351	0.943;0.906;0.91	T	0.39860	-0.9593	9	0.59425	D	0.04	.	8.6181	0.33845	0.0:1.0:0.0:0.0	.	349;349;527	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	C	527;349	ENSP00000365528:G527C;ENSP00000263434:G349C	ENSP00000263434:G349C	G	-	1	0	PTPRH	60401934	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.593000	0.23999	1.714000	0.51371	0.561000	0.74099	GGT	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452649.1		-	ENST00000376350.3	Missense_Mutation	SNP	19 : 55710122 - 55710122 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	279	42
RAD23B	5887	broad.mit.edu	37	9	110064366	110064366	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:110064366delA	ENST00000358015.3	+	3	550	c.199delA	c.(199-201)aaafs	p.K67fs	RAD23B_ENST00000416373.2_5'UTR	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	67	Ubiquitin-like.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTGATGAGAAAAACTTTGT	0.303		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													146	154	151			NA	NA	9		NA											NA				110064366		2203	4298	6501	SO:0001589	frameshift_variant				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318	5887	5887			9813	protein-coding gene	gene with protein product	XP-C repair complementing protein, XP-C repair complementing complex 58 kDa	600062	RAD23 (S. cerevisiae) homolog B		NA	7851894, 8168482	Standard	NM_002874	NM_002874	NA	Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.199delA	9.37:g.110064366delA	ENSP00000350708:p.Lys67fs	NA	B3KWK8|Q8WUB0	37	CCDS6769.1																																																																																			RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053548.1		+	ENST00000358015.3	Frame_Shift_Del	DEL	9 : 110064366 - 110064366 - PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	513	94
RANBP2	5903	broad.mit.edu	37	2	109380688	109380688	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:109380688C>T	ENST00000283195.6	+	20	3819	c.3693C>T	c.(3691-3693)cgC>cgT	p.R1231R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1231	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTAAAATTCGCCTTCTAATGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	73	73			NA	NA	2		NA											NA				109380688		2203	4300	6503	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3693C>T	2.37:g.109380688C>T		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109380688 - 109380688 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	296	72
RBM15	64783	broad.mit.edu	37	1	110883874	110883874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:110883874G>T	ENST00000369784.3	+	1	2747	c.1847G>T	c.(1846-1848)cGc>cTc	p.R616L	RBM15_ENST00000602849.1_Missense_Mutation_p.R616L|RBM15_ENST00000487146.2_Missense_Mutation_p.R616L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	616	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCCTAGATCGCAGGCGGGAT	0.612		NA	T	MKL1	acute megakaryocytic leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													43	42	43			NA	NA	1		NA											NA				110883874		2203	4300	6503	SO:0001583	missense			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775	64783	64783		RNA binding motif (RRM) containing	14959	protein-coding gene	gene with protein product	one twenty-two	606077			NA	11431691, 11344311	Standard	NM_022768	NM_001201545	NA	Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1847G>T	1.37:g.110883874G>T	ENSP00000358799:p.Arg616Leu	NA	Q4V760|Q5D058|Q5T613|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574568	0.86542	.	.	ENSG00000162775	ENST00000369784	T	0.22945	1.93	4.77	4.77	0.60923	.	0.159339	0.29775	N	0.011221	T	0.42743	0.1216	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	T	0.32481	-0.9905	10	0.52906	T	0.07	-1.5084	17.9541	0.89063	0.0:0.0:1.0:0.0	.	616;616	Q96T37-3;Q96T37	.;RBM15_HUMAN	L	616	ENSP00000358799:R616L	ENSP00000358799:R616L	R	+	2	0	RBM15	110685397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.480000	0.83734	0.655000	0.94253	CGC	RBM15-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000031114.2		+	ENST00000369784.3	Missense_Mutation	SNP	1 : 110883874 - 110883874 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	167	39
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)						G	PHE/SER	0,4406		0,0,2203	98	106	104		1475	5.1	0.4	2	dbSNP_134	104	4,8596	3.0+/-9.4	0,4,4296	yes	missense	RETSAT	NM_017750.3	155	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	benign	492/611	85571180	4,13002	2203	4300	6503	SO:0001583	missense			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	54884	54884	1.3.99.23		25991	protein-coding gene	gene with protein product					NA	12975309, 15358783	Standard	NM_017750	NM_017750	NA	Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1475C>T	2.37:g.85571180G>A	ENSP00000295802:p.Ser492Phe	NA	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	37	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.928287|2.928287	0.52759|0.52759	0.0|0.0	4.65E-4|4.65E-4	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000457495	.|T;T	.|0.23552	.|1.9;1.9	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.852245	.|0.10867	.|N	.|0.625371	T|T	0.36303|0.36303	0.0962|0.0962	M|M	0.65975|0.65975	2.015|2.015	0.35609|0.35609	D|D	0.808519|0.808519	.|P;P;P	.|0.48089	.|0.905;0.905;0.748	.|P;P;B	.|0.46585	.|0.521;0.521;0.243	T|T	0.45760|0.45760	-0.9239|-0.9239	5|10	.|0.56958	.|D	.|0.05	-8.7214|-8.7214	12.225|12.225	0.54455|0.54455	0.0:0.1718:0.8282:0.0|0.0:0.1718:0.8282:0.0	.|.	.|431;431;492	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	S|F	281|492;431	.|ENSP00000295802:S492F;ENSP00000405040:S431F	.|ENSP00000295802:S492F	P|S	-|-	1|2	0|0	RETSAT|RETSAT	85424691|85424691	0.967000|0.967000	0.33354|0.33354	0.392000|0.392000	0.26245|0.26245	0.722000|0.722000	0.41435|0.41435	3.004000|3.004000	0.49513|0.49513	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	CCT|TCC	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252489.1		-	ENST00000295802.4	Missense_Mutation	SNP	2 : 85571180 - 85571180 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	414	9
RGS22	26166	broad.mit.edu	37	8	101052308	101052308	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:101052308G>T	ENST00000523287.1	-	11	1992	c.1403C>A	c.(1402-1404)aCc>aAc	p.T468N	RGS22_ENST00000360863.6_Missense_Mutation_p.T649N|RGS22_ENST00000523437.1_Missense_Mutation_p.T637N			Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	649					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTGACACGGTTTTAACCTA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	68	70			NA	NA	8		NA											NA				101052308		1839	4084	5923	SO:0001583	missense			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554	26166	26166		Regulators of G-protein signaling	24499	protein-coding gene	gene with protein product		615650	regulator of G-protein signalling 22		NA		Standard	NM_015668	XM_005250856	NA	Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000523287.1:c.1403C>A	8.37:g.101052308G>T	ENSP00000429382:p.Thr468Asn	NA	Q569L2|Q86Y71|Q9UFN6	37		.	.	.	.	.	.	.	.	.	.	G	2.540	-0.306504	0.05458	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.31510	1.49;1.49;1.49	5.61	1.58	0.23477	.	0.554792	0.17317	N	0.178675	T	0.19087	0.0458	N	0.19112	0.55	0.19775	N	0.999958	P;P;P	0.46395	0.877;0.877;0.634	B;B;B	0.41860	0.368;0.368;0.165	T	0.08186	-1.0734	10	0.59425	D	0.04	.	8.1409	0.31082	0.1984:0.5019:0.2997:0.0	.	637;649;468	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	N	649;637;468;637	ENSP00000354109:T649N;ENSP00000429382:T468N;ENSP00000428212:T637N	ENSP00000354109:T649N	T	-	2	0	RGS22	101121484	0.076000	0.21285	0.087000	0.20705	0.094000	0.18550	0.265000	0.18515	0.286000	0.22352	-0.282000	0.10007	ACC	RGS22-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000380366.1		-	ENST00000523287.1	Missense_Mutation	SNP	8 : 101052308 - 101052308 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	306	149
RTN1	6252	broad.mit.edu	37	14	60212959	60212959	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:60212959A>T	ENST00000267484.5	-	2	817	c.482T>A	c.(481-483)tTa>tAa	p.L161*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	161					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGAACTAAATAAGCCACGAGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	14		NA											NA				60212959		2203	4300	6503	SO:0001587	stop_gained			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970	6252	6252			10467	protein-coding gene	gene with protein product		600865	neuroendocrine-specific protein	NSP	NA	8275708	Standard		NM_206852	NA	Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.482T>A	14.37:g.60212959A>T	ENSP00000267484:p.Leu161*	NA	Q16800|Q16801|Q5BKZ4|Q9BQ59	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	A	38	6.805722	0.97853	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	.	.	.	5.48	4.35	0.52113	.	0.874410	0.10088	N	0.717513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7742	0.46340	0.9255:0.0:0.0745:0.0	.	.	.	.	X	161;87	.	ENSP00000267484:L161X	L	-	2	0	RTN1	59282712	1.000000	0.71417	0.981000	0.43875	0.734000	0.41952	4.173000	0.58249	2.079000	0.62486	0.455000	0.32223	TTA	RTN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072278.2		-	ENST00000267484.5	Nonsense_Mutation	SNP	14 : 60212959 - 60212959 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	492	39
SEC62	7095	broad.mit.edu	37	3	169710773	169710773	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:169710773A>G	ENST00000337002.4	+	8	1180	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	SEC62_ENST00000480708.1_Silent_p.Q374Q	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	374					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGGAACAGCAAACAGATGGGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	58			NA	NA	3		NA											NA				169710773		2203	4300	6503	SO:0001819	synonymous_variant			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952	7095	7095			11846	protein-coding gene	gene with protein product		602173	translocation protein 1	TLOC1	NA	9020021, 10799540	Standard		NM_003262	NA	Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.1122A>G	3.37:g.169710773A>G		NA	D3DNQ0|O00682|O00729	37	CCDS3210.1																																																																																			SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352043.1		+	ENST00000337002.4	Silent	SNP	3 : 169710773 - 169710773 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	140	9
SERPINB7	8710	broad.mit.edu	37	18	61460480	61460480	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:61460480T>G	ENST00000398019.2	+	4	630	c.305T>G	c.(304-306)cTt>cGt	p.L102R	SERPINB7_ENST00000336429.2_Missense_Mutation_p.L102R|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L102R|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L85R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	102					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTGAATGGGCTTTTTGCTGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	110	114			NA	NA	18		NA											NA				61460480		2203	4300	6503	SO:0001583	missense			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396	8710	8710		Serine (or cysteine) peptidase inhibitors	13902	protein-coding gene	gene with protein product		603357	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7		NA	24172014	Standard	NM_003784	NM_003784	NA	Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.305T>G	18.37:g.61460480T>G	ENSP00000381101:p.Leu102Arg	NA	Q1ED45|Q3KPG4	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431273	0.43122	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;T;T;T;D;T;D	0.87103	-2.21;2.27;2.27;2.27;-2.17;2.27;-2.21	5.9	5.9	0.94986	Serpin domain (3);	0.453562	0.18720	N	0.133053	D	0.95335	0.8486	H	0.95884	3.735	0.33759	D	0.621571	D;D	0.69078	0.992;0.997	D;D	0.67382	0.919;0.951	D	0.99862	1.1084	10	0.87932	D	0	.	13.7015	0.62611	0.0:0.0:0.0:1.0	.	85;102	F5GZC0;O75635	.;SPB7_HUMAN	R	102;102;102;85;102;102;102	ENSP00000397301:L102R;ENSP00000337212:L102R;ENSP00000381101:L102R;ENSP00000444572:L85R;ENSP00000402362:L102R;ENSP00000444861:L102R;ENSP00000393947:L102R	ENSP00000337212:L102R	L	+	2	0	SERPINB7	59611460	0.997000	0.39634	0.995000	0.50966	0.033000	0.12548	4.128000	0.57951	2.257000	0.74773	0.533000	0.62120	CTT	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134007.1		+	ENST00000398019.2	Missense_Mutation	SNP	18 : 61460480 - 61460480 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	350	129
SND1	27044	broad.mit.edu	37	7	127484381	127484381	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:127484381A>G	ENST00000354725.3	+	12	1441	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	416	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCCAGGTCAATGTGACGGTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	112	122			NA	NA	7		NA											NA				127484381		2203	4300	6503	SO:0001583	missense				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157	27044	27044		Tudor domain containing	30646	protein-coding gene	gene with protein product	p100 EBNA2 co-activator, Tudor-SN	602181			NA	7651391, 9003410, 12819296	Standard	NM_014390	NM_014390	NA	Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1247A>G	7.37:g.127484381A>G	ENSP00000346762:p.Asn416Ser	NA	Q13122|Q96AG0	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559291	0.45590	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.28069	1.63	5.78	4.64	0.57946	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.354502	0.34603	N	0.003824	T	0.22820	0.0551	L	0.40543	1.245	0.58432	D	0.999992	B	0.02656	0.0	B	0.12156	0.007	T	0.05500	-1.0881	10	0.13853	T	0.58	-13.0002	10.0047	0.41951	0.9202:0.0:0.0798:0.0	.	416	Q7KZF4	SND1_HUMAN	S	416;406	ENSP00000346762:N416S	ENSP00000346762:N416S	N	+	2	0	SND1	127271617	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.018000	0.49625	1.130000	0.42092	0.533000	0.62120	AAT	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349148.1		+	ENST00000354725.3	Missense_Mutation	SNP	7 : 127484381 - 127484381 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	160	6
SNX7	51375	broad.mit.edu	37	1	99167440	99167440	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:99167440A>G	ENST00000306121.3	+	7	1115	c.1106A>G	c.(1105-1107)aAa>aGa	p.K369R	SNX7_ENST00000370189.5_Missense_Mutation_p.K305R|SNX7_ENST00000529992.1_Missense_Mutation_p.K314R	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	305					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTGACCTATAAAAAGGCAGAT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	148	141			NA	NA	1		NA											NA				99167440		2203	4290	6493	SO:0001583	missense			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627	51375	51375		Sorting nexins	14971	protein-coding gene	gene with protein product		614904			NA		Standard		NM_015976	NA	Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1106A>G	1.37:g.99167440A>G	ENSP00000304429:p.Lys369Arg	NA	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	8.372	0.835519	0.16820	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.32023	1.92;1.47;1.47	5.21	4.07	0.47477	.	0.200162	0.52532	D	0.000079	T	0.11110	0.0271	L	0.38175	1.15	0.46336	D	0.99899	B;B;B	0.21606	0.007;0.058;0.058	B;B;B	0.25987	0.009;0.065;0.065	T	0.06041	-1.0849	10	0.21014	T	0.42	-33.3923	11.264	0.49099	0.9273:0.0:0.0727:0.0	.	314;369;305	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	R	305;314;369	ENSP00000359208:K305R;ENSP00000434731:K314R;ENSP00000304429:K369R	ENSP00000304429:K369R	K	+	2	0	SNX7	98940028	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	1.917000	0.39996	0.916000	0.36871	0.377000	0.23210	AAA	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029609.2		+	ENST00000306121.3	Missense_Mutation	SNP	1 : 99167440 - 99167440 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	692	129
SPAG17	200162	broad.mit.edu	37	1	118539013	118539013	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:118539013T>C	ENST00000336338.5	-	34	5098	c.5033A>G	c.(5032-5034)gAg>gGg	p.E1678G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1678						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCACTGGCTCTTGGAGAAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	103			NA	NA	1		NA											NA				118539013		2203	4300	6503	SO:0001583	missense				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761	200162	200162			26620	protein-coding gene	gene with protein product					NA		Standard	NM_206996	NM_206996	NA	Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5033A>G	1.37:g.118539013T>C	ENSP00000337804:p.Glu1678Gly	NA	Q8NAZ1|Q9NT21	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039868	0.55003	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.33438	1.41	5.09	5.09	0.68999	.	0.157176	0.56097	D	0.000034	T	0.43500	0.1250	M	0.68952	2.095	0.38533	D	0.949035	D	0.76494	0.999	D	0.69479	0.964	T	0.48103	-0.9064	10	0.72032	D	0.01	.	13.9935	0.64380	0.0:0.0:0.0:1.0	.	1678	Q6Q759	SPG17_HUMAN	G	1678;158	ENSP00000337804:E1678G	ENSP00000337804:E1678G	E	-	2	0	SPAG17	118340536	1.000000	0.71417	0.762000	0.31397	0.233000	0.25261	4.711000	0.61881	2.126000	0.65437	0.528000	0.53228	GAG	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033723.1		-	ENST00000336338.5	Missense_Mutation	SNP	1 : 118539013 - 118539013 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	487	170
SVEP1	79987	broad.mit.edu	37	9	113166766	113166766	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:113166766C>G	ENST00000374469.1	-	39	9701	c.9438G>C	c.(9436-9438)tgG>tgC	p.W3146C	SVEP1_ENST00000297826.5_Missense_Mutation_p.W1095C|SVEP1_ENST00000401783.2_Missense_Mutation_p.W3169C			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3169	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCAGGGAACCAGCGACCAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													269	261	264			NA	NA	9		NA											NA				113166766		1894	4112	6006	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.9438G>C	9.37:g.113166766C>G	ENSP00000363593:p.Trp3146Cys	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	C	13.37	2.215916	0.39201	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;T	0.97731	-4.51;-4.51;-1.31	5.76	4.85	0.62838	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98727	1.0711	10	0.87932	D	0	.	16.0816	0.81007	0.1352:0.8648:0.0:0.0	.	3169	Q4LDE5	SVEP1_HUMAN	C	3169;3146;1095	ENSP00000384917:W3169C;ENSP00000363593:W3146C;ENSP00000297826:W1095C	ENSP00000297826:W1095C	W	-	3	0	SVEP1	112206587	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	6.521000	0.73778	1.414000	0.47017	-0.293000	0.09583	TGG	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113166766 - 113166766 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	1348	454
TBC1D17	79735	broad.mit.edu	37	19	50390732	50390732	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:50390732G>T	ENST00000221543.5	+	14	1743		c.e14-1		TBC1D17_ENST00000535102.2_Splice_Site	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	NA						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATCCCCCAGATTCCCAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	64	65			NA	NA	19		NA											NA				50390732		2203	4299	6502	SO:0001630	splice_region_variant			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946	79735	79735			25699	protein-coding gene	gene with protein product					NA	22854040	Standard	NM_024682	NM_024682	NA	Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1445-1G>T	19.37:g.50390732G>T		NA		37	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986222	0.74589	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.694	0.77481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D17	55082544	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	7.154000	0.77437	2.567000	0.86603	0.511000	0.50034	.	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466404.1	Intron	+	ENST00000221543.5	Splice_Site	SNP	19 : 50390732 - 50390732 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	124	46
TCERG1L	256536	broad.mit.edu	37	10	133106511	133106511	+	Silent	SNP	C	C	T	rs144369307	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:133106511C>T	ENST00000368642.4	-	3	718	c.633G>A	c.(631-633)ccG>ccA	p.P211P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	211										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCGTGGGGAGCGGCCTGGAGG	0.493		NA											C	4	0.0018	0.01	NA	2184	0.0017	1	,	,	NA	6e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		65,4341	60.5+/-97.4	0,65,2138	51	49	50		633	-3.6	0	10	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	TCERG1L	NM_174937.3		0,65,6438	TT,TC,CC	NA	0.0,1.4753,0.4998		211/587	133106511	65,12941	2203	4300	6503	SO:0001819	synonymous_variant			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769	256536	256536			23533	protein-coding gene	gene with protein product					NA		Standard	NM_174937	NM_174937	NA	Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.633G>A	10.37:g.133106511C>T		NA	Q5VWI2|Q86XM8	37	CCDS7662.2																																																																																			TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091619.2		-	ENST00000368642.4	Silent	SNP	10 : 133106511 - 133106511 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	117	10
THAP2	83591	broad.mit.edu	37	12	72068117	72068117	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:72068117G>A	ENST00000308086.2	+	2	1707	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R45Q	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	69						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						GGACAAACTCGACGACTTAAA	0.373		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								G	GLN/ARG	0,4406		0,0,2203	124	122	123		206	6.1	1	12		123	4,8596	3.7+/-12.6	0,4,4296	yes	missense	THAP2	NM_031435.3	43	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	probably-damaging	69/229	72068117	4,13002	2203	4300	6503	SO:0001583	missense			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451	83591	83591		THAP (C2CH-type zinc finger) domain containing	20854	protein-coding gene	gene with protein product		612531			NA	12575992	Standard	NM_031435	NM_031435	NA	Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.206G>A	12.37:g.72068117G>A	ENSP00000310796:p.Arg69Gln	NA	B2R8P3	37	CCDS9001.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.6	4.311762	0.81358	0.0	4.65E-4	ENSG00000173451	ENST00000308086	D	0.96522	-4.04	6.08	6.08	0.98989	Zinc finger, C2CH-type (4);	0.203595	0.31519	N	0.007503	D	0.96759	0.8942	M	0.63208	1.945	0.80722	D	1	D	0.71674	0.998	P	0.58172	0.834	D	0.95628	0.8687	10	0.42905	T	0.14	.	13.0242	0.58806	0.0:0.0:0.839:0.161	.	69	Q9H0W7	THAP2_HUMAN	Q	69	ENSP00000310796:R69Q	ENSP00000310796:R69Q	R	+	2	0	THAP2	70354384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.873000	0.39558	2.890000	0.99128	0.655000	0.94253	CGA	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404796.1		+	ENST00000308086.2	Missense_Mutation	SNP	12 : 72068117 - 72068117 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	776	20
TLR2	7097	broad.mit.edu	37	4	154624846	154624846	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:154624846G>A	ENST00000260010.6	+	1	2195	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	263					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GAAAATCACCGATGAAAGTTT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	4		NA											NA				154624846		2203	4300	6503	SO:0001583	missense			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462	7097	7097		CD molecules	11848	protein-coding gene	gene with protein product		603028			NA	9435236	Standard		XM_005263193	NA	Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.787G>A	4.37:g.154624846G>A	ENSP00000260010:p.Asp263Asn	NA	B3Y612|O15454|Q8NI00	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636960	0.67130	.	.	ENSG00000137462	ENST00000260010	T	0.52754	0.65	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	M	0.78344	2.41	0.40634	D	0.981889	D	0.76494	0.999	D	0.65010	0.931	T	0.67995	-0.5526	10	0.54805	T	0.06	.	10.7223	0.46046	0.0698:0.0:0.7969:0.1332	.	263	O60603	TLR2_HUMAN	N	263	ENSP00000260010:D263N	ENSP00000260010:D263N	D	+	1	0	TLR2	154844296	1.000000	0.71417	0.131000	0.22000	0.558000	0.35554	6.364000	0.73086	2.802000	0.96397	0.655000	0.94253	GAT	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365205.1		+	ENST00000260010.6	Missense_Mutation	SNP	4 : 154624846 - 154624846 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	272	17
TMEM108	66000	broad.mit.edu	37	3	133099106	133099106	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:133099106C>T	ENST00000515826.1	+	3	674	c.551C>T	c.(550-552)cCg>cTg	p.P184L	TMEM108_ENST00000393130.3_Missense_Mutation_p.P184L|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P184L			Q6UXF1	TM108_HUMAN	transmembrane protein 108	184	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CGCCCTGTCCCGCCTGCACCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	3		NA											NA				133099106		2203	4299	6502	SO:0001583	missense			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868	66000	66000			28451	protein-coding gene	gene with protein product	cancer/testis antigen 124				NA	11214970	Standard	NM_023943	XM_005247726	NA	Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000515826.1:c.551C>T	3.37:g.133099106C>T	ENSP00000423338:p.Pro184Leu	NA	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	37		.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461605	0.04508	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.39592	1.07;1.07;1.07	4.32	0.207	0.15214	.	0.512094	0.16010	N	0.233845	T	0.28101	0.0693	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.10450	0.005;0.003	T	0.16897	-1.0387	10	0.44086	T	0.13	1.7616	8.9893	0.36014	0.0:0.7646:0.0:0.2354	.	184;184	E9PB58;Q6UXF1	.;TM108_HUMAN	L	184	ENSP00000324651:P184L;ENSP00000376838:P184L;ENSP00000423338:P184L	ENSP00000324651:P184L	P	+	2	0	TMEM108	134581796	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.130000	0.10498	-0.212000	0.10109	0.561000	0.74099	CCG	TMEM108-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000356910.1		+	ENST00000515826.1	Missense_Mutation	SNP	3 : 133099106 - 133099106 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	171	66
TMEM260	54916	broad.mit.edu	37	14	57085396	57085396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:57085396C>T	ENST00000261556.6	+	10	1263	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.R381*|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260	NA											NA						TGAGACTAACCGAGTGCTGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	127	134			NA	NA	14		NA											NA				57085396		2203	4300	6503	SO:0001587	stop_gained			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269	54916	54916			20185	protein-coding gene	gene with protein product			chromosome 14 open reading frame 101	C14orf101	NA		Standard	NM_017799	XR_245695	NA	Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1141C>T	14.37:g.57085396C>T	ENSP00000261556:p.Arg381*	NA		37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266182	0.40095	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	.	.	.	6.04	2.98	0.34508	.	0.308918	0.32624	N	0.005852	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9406	7.4557	0.27266	0.4733:0.4342:0.0:0.0925	.	.	.	.	X	381	.	ENSP00000261556:R381X	R	+	1	2	C14orf101	56155149	0.008000	0.16893	0.125000	0.21846	0.010000	0.07245	0.615000	0.24329	0.445000	0.26639	-2.889000	0.00095	CGA	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276924.1		+	ENST00000261556.6	Nonsense_Mutation	SNP	14 : 57085396 - 57085396 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	325	75
TOP2A	7153	broad.mit.edu	37	17	38555132	38555132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:38555132C>T	ENST00000423485.1	-	26	3504	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1116					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTACGGAGTCACTCTTTTCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	146	152			NA	NA	17		NA											NA				38555132		1852	4096	5948	SO:0001583	missense				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	7153	7153	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	topoisomerase (DNA) II alpha (170kD)	TOP2	NA		Standard		NM_001067	NA	Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3346G>A	17.37:g.38555132C>T	ENSP00000411532:p.Asp1116Asn	NA	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075095	0.36566	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23552	1.9	6.05	4.05	0.47172	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A, alpha-helical (1);DNA topoisomerase, type IIA, central (1);	0.722808	0.15029	N	0.284597	T	0.22322	0.0538	L	0.46947	1.48	0.43330	D	0.995362	B	0.10296	0.003	B	0.10450	0.005	T	0.03060	-1.1077	10	0.16420	T	0.52	.	11.2796	0.49186	0.0:0.8505:0.0:0.1495	.	1116	P11388	TOP2A_HUMAN	N	1116;1196;1139;1152	ENSP00000411532:D1116N	ENSP00000269577:D1196N	D	-	1	0	TOP2A	35808658	0.477000	0.25909	0.176000	0.23000	0.513000	0.34164	2.083000	0.41615	0.881000	0.35993	-0.142000	0.14014	GAC	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338035.1		-	ENST00000423485.1	Missense_Mutation	SNP	17 : 38555132 - 38555132 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	230	117
TRDN	10345	broad.mit.edu	37	6	123824955	123824955	+	Silent	SNP	A	A	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:123824955A>G	ENST00000334268.4	-	8	1019	c.702T>C	c.(700-702)gcT>gcC	p.A234A	TRDN_ENST00000546248.1_Silent_p.A234A|TRDN_ENST00000398178.3_Silent_p.A234A			Q13061	TRDN_HUMAN	triadin	234					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTACTTTTGCAGCTGTTTGCT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	196	204			NA	NA	6		NA											NA				123824955		1862	4107	5969	SO:0001819	synonymous_variant			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439	10345	10345			12261	protein-coding gene	gene with protein product		603283			NA	7588753	Standard		NM_001251987	NA	Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000334268.4:c.702T>C	6.37:g.123824955A>G		NA		37		.	.	.	.	.	.	.	.	.	.	A	8.659	0.900010	0.17686	.	.	ENSG00000186439	ENST00000361029	.	.	.	5.71	1.57	0.23409	.	.	.	.	.	T	0.10594	0.0259	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.30880	-0.9963	4	.	.	.	0.212	5.3925	0.16251	0.4117:0.299:0.0:0.2893	.	.	.	.	P	73	.	.	L	-	2	0	TRDN	123866654	0.029000	0.19370	0.299000	0.25016	0.906000	0.53458	0.239000	0.18023	0.368000	0.24481	0.533000	0.62120	CTG	TRDN-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042050.1		-	ENST00000334268.4	Silent	SNP	6 : 123824955 - 123824955 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	91	4
TREX1	11277	broad.mit.edu	37	3	48508064	48508064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48508064C>T	ENST00000296443.9	+	3	897	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	TREX1_ENST00000422277.2_Nonsense_Mutation_p.Q59*|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000436480.2_Nonsense_Mutation_p.Q4*|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000433541.1_Intron			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	59					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATGGGCTCGCAGGCCCTGCC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	136	129			NA	NA	3		NA											NA				48508064		2203	4300	6503	SO:0001587	stop_gained			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689	11277	11277			12269	protein-coding gene	gene with protein product		606609	Aicardi-Goutieres syndrome 1	AGS1	NA	10391904, 10393201, 16845398	Standard	NM_016381	NM_033629	NA	Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000296443.9:c.10C>T	3.37:g.48508064C>T	ENSP00000296443:p.Gln4*	NA	B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	37	CCDS2769.1	.	.	.	.	.	.	.	.	.	.	c	43	10.489290	0.99414	.	.	ENSG00000213689	ENST00000296443;ENST00000436480;ENST00000422277	.	.	.	5.16	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.2322	0.43262	0.0:0.7365:0.2635:0.0	.	.	.	.	X	4;4;59	.	ENSP00000296443:Q4X	Q	+	1	0	TREX1	48483068	0.042000	0.20092	0.170000	0.22879	0.791000	0.44710	0.271000	0.18626	2.400000	0.81607	0.586000	0.80456	CAG	TREX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344699.1		+	ENST00000296443.9	Nonsense_Mutation	SNP	3 : 48508064 - 48508064 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	1047	176
TRMT13	54482	broad.mit.edu	37	1	100613486	100613486	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:100613486C>T	ENST00000370141.2	+	10	860	c.854C>T	c.(853-855)gCc>gTc	p.A285V		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)	NA											NA						ACCTATGCTGCCAGTTTTGAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	62	61			NA	NA	1		NA											NA				100613486		2202	4300	6502	SO:0001583	missense			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435	54482	54482			25502	protein-coding gene	gene with protein product			coiled-coil domain containing 76	CCDC76	NA	11799066	Standard	NM_019083	NM_019083	NA	Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.854C>T	1.37:g.100613486C>T	ENSP00000359160:p.Ala285Val	NA		37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735636	0.30774	.	.	ENSG00000122435	ENST00000370141	T	0.45668	0.89	5.86	4.95	0.65309	Methyltransferase TRM13 (1);	0.464369	0.23933	N	0.043134	T	0.20981	0.0505	L	0.50333	1.59	0.80722	D	1	B	0.15719	0.014	B	0.19391	0.025	T	0.06373	-1.0830	10	0.30078	T	0.28	-2.171	10.5704	0.45196	0.133:0.7985:0.0:0.0685	.	285	Q9NUP7	TRM13_HUMAN	V	285	ENSP00000359160:A285V	ENSP00000359160:A285V	A	+	2	0	CCDC76	100386074	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	1.789000	0.38724	1.494000	0.48533	-0.136000	0.14681	GCC	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029919.1		+	ENST00000370141.2	Missense_Mutation	SNP	1 : 100613486 - 100613486 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	262	43
TUBGCP6	85378	broad.mit.edu	37	22	50657234	50657234	+	Silent	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:50657234G>A	ENST00000248846.5	-	21	4823	c.4719C>T	c.(4717-4719)gaC>gaT	p.D1573D	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1573					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGCGGGGTGTCCCCATGCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	22		NA											NA				50657234		2203	4300	6503	SO:0001819	synonymous_variant			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159	85378	85378			18127	protein-coding gene	gene with protein product	gamma-tubulin complex component 6	610053			NA	11694571, 11258795	Standard	NM_020461	XR_244458	NA	Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4719C>T	22.37:g.50657234G>A		NA	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	37	CCDS14087.1																																																																																			TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075004.3		-	ENST00000248846.5	Silent	SNP	22 : 50657234 - 50657234 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	291	94
UGT1A4	54657	broad.mit.edu	37	2	234627926	234627926	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234627926G>T	ENST00000373409.3	+	1	503	c.460G>T	c.(460-462)Gtt>Ttt	p.V154F	UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1			UDP glucuronosyltransferase 1 family, polypeptide A4	NA										autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AACAGACCCCGTTAACCTCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(99;1011 1962 13201 26492)							NA				0													184	185	184			NA	NA	2		NA											NA				234627926		2203	4300	6503	SO:0001583	missense			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474	54657	54657		UDP glucuronosyltransferases	12536	other	complex locus constituent		606429	UDP glycosyltransferase 1 family, polypeptide A4		NA	9295054, 1339448	Standard	NM_007120	NM_007120	NA	Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.460G>T	2.37:g.234627926G>T	ENSP00000362508:p.Val154Phe	NA		37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.920268	0.00498	.	.	ENSG00000244474	ENST00000373409	T	0.65549	-0.16	4.31	-5.58	0.02512	.	.	.	.	.	T	0.20981	0.0505	N	0.01219	-0.95	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20184	0.007;0.028	T	0.24693	-1.0153	9	0.07175	T	0.84	.	1.4635	0.02401	0.343:0.0862:0.3092:0.2616	.	154;154	B8K288;P22310	.;UD14_HUMAN	F	154	ENSP00000362508:V154F	ENSP00000362508:V154F	V	+	1	0	UGT1A4	234292665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.504000	0.00964	-1.124000	0.02936	-3.389000	0.00040	GTT	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130984.1		+	ENST00000373409.3	Missense_Mutation	SNP	2 : 234627926 - 234627926 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	1257	226
UGT1A6	54578	broad.mit.edu	37	2	234681097	234681097	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234681097C>T	ENST00000305139.6	+	5	1630	c.1491C>T	c.(1489-1491)gtC>gtT	p.V497V	UGT1A8_ENST00000305208.5_Silent_p.V498V|UGT1A1_ENST00000609767.1_Silent_p.V499V|UGT1A5_ENST00000373414.3_Silent_p.V499V|UGT1A7_ENST00000373426.3_Silent_p.V495V|UGT1A3_ENST00000482026.1_Silent_p.V499V|UGT1A1_ENST00000608381.1_Silent_p.V499V|UGT1A4_ENST00000373409.3_Silent_p.V499V|UGT1A1_ENST00000608383.1_Silent_p.V498V|UGT1A1_ENST00000609637.1_Silent_p.V495V|UGT1A10_ENST00000344644.5_Silent_p.V495V|UGT1A6_ENST00000373424.1_Silent_p.V230V|UGT1A9_ENST00000354728.4_Silent_p.V495V|UGT1A1_ENST00000373450.4_Silent_p.V495V	NM_001072.3	NP_001063.2			UDP glucuronosyltransferase 1 family, polypeptide A6	NA										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TCTTGGCCGTCGTGCTGACAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	143	156			NA	NA	2		NA											NA				234681097		2203	4300	6503	SO:0001819	synonymous_variant			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165	54578	54578		UDP glucuronosyltransferases	12538	other	complex locus constituent		606431	UDP glycosyltransferase 1 family, polypeptide A6		NA	9295054, 1339448	Standard	NM_205862	NM_001072	NA	Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1491C>T	2.37:g.234681097C>T		NA		37	CCDS2507.1																																																																																			UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130988.1		+	ENST00000305139.6	Silent	SNP	2 : 234681097 - 234681097 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	488	221
USP10	9100	broad.mit.edu	37	16	84797846	84797846	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:84797846C>T	ENST00000219473.7	+	10	1922	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	USP10_ENST00000570191.1_Silent_p.T607T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	603					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTCCAATCACCGGCATTTTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,3707		0,1,1853	101	101	101		1809	-4.2	0.8	16		101	1,8181		0,1,4090	no	coding-synonymous	USP10	NM_005153.2		0,2,5943	TT,TC,CC	NA	0.0122,0.027,0.0168		603/799	84797846	2,11888	1854	4091	5945	SO:0001819	synonymous_variant			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194	9100	9100		Ubiquitin-specific peptidases	12608	protein-coding gene	gene with protein product		609818	ubiquitin specific protease 10		NA	12838346	Standard		NM_005153	NA	Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1809C>T	16.37:g.84797846C>T		NA	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	37	CCDS45537.1																																																																																			USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433660.1		+	ENST00000219473.7	Silent	SNP	16 : 84797846 - 84797846 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	514	215
XIRP2	129446	broad.mit.edu	37	2	167760152	167760152	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:167760152C>G	ENST00000409195.1	+	2	249	c.160C>G	c.(160-162)Cct>Gct	p.P54A	XIRP2_ENST00000420519.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409728.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409043.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409756.2_Missense_Mutation_p.P54A|XIRP2_ENST00000295237.9_Missense_Mutation_p.P54A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTATCAGCACCTCAATCTTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	75			NA	NA	2		NA											NA				167760152		1953	4134	6087	SO:0001583	missense			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092	129446	129446			14303	protein-coding gene	gene with protein product	myomaxin	609778	cardiomyopathy associated 3	CMYA3	NA	17046827, 12203715, 15454575	Standard	NM_152381	NM_001079810	NA	Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.160C>G	2.37:g.167760152C>G	ENSP00000386840:p.Pro54Ala	NA	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466969	0.26335	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77750	-1.11;-1.12;4.23;-1.11;-1.12;4.23	5.36	0.683	0.17998	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.003	T	0.43814	-0.9368	8	0.34782	T	0.22	-0.0031	2.5668	0.04785	0.4339:0.3322:0.1359:0.0979	.	54;54	A4UGR9-4;A4UGR9-6	.;.	A	54	ENSP00000386454:P54A;ENSP00000386619:P54A;ENSP00000386840:P54A;ENSP00000386724:P54A;ENSP00000415541:P54A;ENSP00000295237:P54A	ENSP00000295237:P54A	P	+	1	0	XIRP2	167468398	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.607000	0.05648	0.179000	0.19938	-0.119000	0.15052	CCT	XIRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333547.1		+	ENST00000409195.1	Missense_Mutation	SNP	2 : 167760152 - 167760152 G PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	237	125
ZBTB7A	51341	broad.mit.edu	37	19	4048140	4048140	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:4048140G>C	ENST00000322357.4	-	3	1643	c.1365C>G	c.(1363-1365)aaC>aaG	p.N455K	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.N455K	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	455					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCATGTGGTTCTTCAGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	73	74			NA	NA	19		NA											NA				4048140		2203	4300	6503	SO:0001583	missense			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951	51341	51341		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	18078	protein-coding gene	gene with protein product	zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein, lymphoma related factor	605878	zinc finger and BTB domain containing 7	ZBTB7	NA	9973611, 9927193	Standard	NM_015898	NM_015898	NA	Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1365C>G	19.37:g.4048140G>C	ENSP00000323670:p.Asn455Lys	NA	D6W619|O00456|Q14D41|Q5XG86	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500479	0.64298	.	.	ENSG00000178951	ENST00000322357	T	0.07567	3.18	3.84	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.06645	0.0170	N	0.10618	0.0049999999999999	0.40411	D	0.979749	P	0.47484	0.896	P	0.51415	0.669	T	0.45775	-0.9238	10	0.33141	T	0.24	.	8.3603	0.32355	0.1207:0.0:0.8793:0.0	.	455	O95365	ZBT7A_HUMAN	K	455	ENSP00000323670:N455K	ENSP00000323670:N455K	N	-	3	2	ZBTB7A	3999140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.486000	0.60286	1.700000	0.51204	0.542000	0.68232	AAC	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457621.2		-	ENST00000322357.4	Missense_Mutation	SNP	19 : 4048140 - 4048140 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	335	97
ZFYVE1	53349	broad.mit.edu	37	14	73459982	73459982	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:73459982G>A	ENST00000556143.1	-	4	1792	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H358Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H358Y	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	358						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCCTTGTAGTGAATGGAACTA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	14		NA											NA				73459982		2203	4300	6503	SO:0001583	missense			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861	53349	53349		Zinc fingers, FYVE domain containing	13180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 172	605471	zinc finger protein, subfamily 2A (FYVE domain containing), 1	ZNFN2A1	NA	11024279, 11256955	Standard	NM_021260	NM_021260	NA	Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1072C>T	14.37:g.73459982G>A	ENSP00000450742:p.His358Tyr	NA	Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655491	0.67586	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.63580	-0.05;-0.04;-0.04	5.47	5.47	0.80525	.	0.060616	0.64402	D	0.000001	T	0.49201	0.1543	N	0.14661	0.345	0.80722	D	1	P;B	0.40266	0.71;0.229	B;B	0.37480	0.251;0.04	T	0.57159	-0.7859	10	0.62326	D	0.03	-20.4042	19.3349	0.94312	0.0:0.0:1.0:0.0	.	358;358	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Y	358	ENSP00000452442:H358Y;ENSP00000326921:H358Y;ENSP00000450742:H358Y	ENSP00000326921:H358Y	H	-	1	0	ZFYVE1	72529735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.588000	0.87417	0.555000	0.69702	CAC	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413172.1		-	ENST00000556143.1	Missense_Mutation	SNP	14 : 73459982 - 73459982 A PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	341	146
ZNF302	55900	broad.mit.edu	37	19	35176007	35176007	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:35176007C>T	ENST00000446502.2	+	6	1405	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	ZNF302_ENST00000457781.2_Silent_p.H355H|ZNF302_ENST00000505242.1_Silent_p.H355H|ZNF302_ENST00000423823.2_Silent_p.H355H|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTAGCTCACACCTTACTCAAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	37			NA	NA	19		NA											NA				35176007		2198	4296	6494	SO:0001819	synonymous_variant			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335	55900	55900		Zinc fingers, C2H2-type, -	13848	protein-coding gene	gene with protein product					NA		Standard		NM_018675	NA	Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1197C>T	19.37:g.35176007C>T		NA	Q658J3|Q9BZD8|Q9P0J4	37																																																																																				ZNF302-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372731.1		+	ENST00000446502.2	Silent	SNP	19 : 35176007 - 35176007 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	242	40
ZNF611	81856	broad.mit.edu	37	19	53209243	53209243	+	Silent	SNP	T	T	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:53209243T>C	ENST00000602162.1	-	2	918	c.858A>G	c.(856-858)caA>caG	p.Q286Q	ZNF611_ENST00000319783.1_Silent_p.Q355Q|ZNF611_ENST00000595798.1_Silent_p.Q286Q|ZNF611_ENST00000540744.1_Silent_p.Q355Q|ZNF611_ENST00000453741.2_Silent_p.Q286Q|ZNF611_ENST00000543227.1_Silent_p.Q355Q			Q8N823	ZN611_HUMAN	zinc finger protein 611	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AAAGTTGTGATTGTTGATTAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	19		NA											NA				53209243		2202	4299	6501	SO:0001819	synonymous_variant			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020	81856	81856		Zinc fingers, C2H2-type, -	28766	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_030972	NM_030972	NA	Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000602162.1:c.858A>G	19.37:g.53209243T>C		NA	B3KRD5|Q69YG9	37	CCDS54312.1																																																																																			ZNF611-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462990.1		-	ENST00000602162.1	Silent	SNP	19 : 53209243 - 53209243 C PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	558	200
ZNF707	286075	broad.mit.edu	37	8	144776010	144776010	+	Silent	SNP	C	C	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:144776010C>T	ENST00000532205.1	+	8	1325	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZNF707_ENST00000454097.1_Silent_p.D142D|ZNF707_ENST00000418203.2_Silent_p.D142D|ZNF707_ENST00000358656.4_Silent_p.D142D|ZNF707_ENST00000532158.1_Silent_p.D142D			Q96C28	ZN707_HUMAN	zinc finger protein 707	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGGACAGACGCCAAGCCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	45	43			NA	NA	8		NA											NA				144776010		2025	4167	6192	SO:0001819	synonymous_variant			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135	286075	286075		Zinc fingers, C2H2-type, -	27815	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173831	NM_173831	NA	Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.426C>T	8.37:g.144776010C>T		NA	A8K317|B3KNY1|D3DWK7	37	CCDS47932.1																																																																																			ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382197.1		+	ENST00000532205.1	Silent	SNP	8 : 144776010 - 144776010 T PAAD-TCGA-HZ-7289-Tumor-SM-2NW7O	203	45
