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
ADAMTS8	11095	broad.mit.edu	37	11	130284700	130284700	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:130284700G>A	ENST00000257359.6	-	5	1998	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	431				YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCAGGGCCGCAGCAGGGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	11		NA											NA				130284700		1938	4103	6041	SO:0001583	missense			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917	11095	11095		ADAM metallopeptidases with thrombospondin type 1 motif	224	protein-coding gene	gene with protein product		605175	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8		NA	10438512	Standard	NM_007037	NM_007037	NA	Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1292C>T	11.37:g.130284700G>A	ENSP00000257359:p.Ala431Val	NA	Q9NZS0	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713736	0.15306	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.03580	3.88	5.42	4.5	0.54988	.	0.751547	0.12761	N	0.441396	T	0.03564	0.0102	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.38329	-0.9666	10	0.59425	D	0.04	.	9.1476	0.36942	0.0:0.119:0.5962:0.2848	.	431	Q9UP79	ATS8_HUMAN	V	431;460	ENSP00000257359:A431V	ENSP00000257359:A431V	A	-	2	0	ADAMTS8	129789910	0.000000	0.05858	0.040000	0.18447	0.079000	0.17450	0.809000	0.27168	1.264000	0.44198	0.655000	0.94253	GCG	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385636.1		-	ENST00000257359.6	Missense_Mutation	SNP	11 : 130284700 - 130284700 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	147	40
ALS2CL	259173	broad.mit.edu	37	3	46729748	46729748	+	Missense_Mutation	SNP	G	G	A	rs143519761		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:46729748G>A	ENST00000318962.4	-	3	225	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R48W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	48					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAAGAGCCGCAGGCACTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	40	40	40		142,142	2.2	0.3	3	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CL	NM_001190707.1,NM_147129.3	101,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	48/954,48/954	46729748	1,13005	2203	4300	6503	SO:0001583	missense			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038	259173	259173			20605	protein-coding gene	gene with protein product		612402			NA	15388334, 8889548, 17239822	Standard	NM_147129	NM_147129	NA	Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.142C>T	3.37:g.46729748G>A	ENSP00000313670:p.Arg48Trp	NA	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1	37	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113617	0.20795	0.0	1.16E-4	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.17691	2.26;2.26	4.15	2.19	0.27852	.	0.879668	0.09620	N	0.777724	T	0.11196	0.0273	L	0.29908	0.895	0.19300	N	0.999979	D	0.56968	0.978	B	0.36504	0.226	T	0.20338	-1.0278	10	0.72032	D	0.01	.	8.7355	0.34525	0.0:0.0:0.5869:0.4131	.	48	Q60I27	AL2CL_HUMAN	W	48	ENSP00000313670:R48W;ENSP00000413223:R48W	ENSP00000313670:R48W	R	-	1	2	ALS2CL	46704752	0.003000	0.15002	0.255000	0.24374	0.221000	0.24807	0.312000	0.19397	1.098000	0.41479	-0.196000	0.12772	CGG	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250567.3		-	ENST00000318962.4	Missense_Mutation	SNP	3 : 46729748 - 46729748 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	235	36
AMPD2	271	broad.mit.edu	37	1	110172946	110172946	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:110172946G>A	ENST00000256578.3	+	16	2597	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	AMPD2_ENST00000528454.1_Missense_Mutation_p.R628Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.R671Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.R746Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.R665Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.R627Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	746					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCTATCACCGGAATCCGCTA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	162	161			NA	NA	1		NA											NA				110172946		2203	4300	6503	SO:0001583	missense			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	271	271	3.5.4.6		469	protein-coding gene	gene with protein product	AMPD isoform L	102771	adenosine monophosphate deaminase 2 (isoform L)		NA	1400401, 24482476	Standard		NM_004037	NA	Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2237G>A	1.37:g.110172946G>A	ENSP00000256578:p.Arg746Gln	NA	B4DZI5|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.936526|4.936526	0.92458|0.92458	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000476688|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.95238	.|-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Adenosine/AMP deaminase (1);	.|0.171927	.|0.50627	.|D	.|0.000102	D|D	0.95934|0.95934	0.8676|0.8676	M|M	0.64630|0.64630	1.985|1.985	0.50039|0.50039	D|D	0.999848|0.999848	.|D;P;P;P	.|0.69078	.|0.997;0.905;0.522;0.905	.|D;B;B;B	.|0.67231	.|0.95;0.185;0.148;0.188	D|D	0.95899|0.95899	0.8913|0.8913	5|10	.|0.56958	.|D	.|0.05	-28.8684|-28.8684	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|671;627;746;665	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	R|Q	135|665;746;746;671;628;627	.|ENSP00000345498:R665Q;ENSP00000436541:R746Q;ENSP00000256578:R746Q;ENSP00000351573:R671Q;ENSP00000437164:R628Q;ENSP00000377292:R627Q	.|ENSP00000256578:R746Q	G|R	+|+	1|2	0|0	AMPD2|AMPD2	109974469|109974469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	4.760000|4.760000	0.62235|0.62235	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GGA|CGG	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390615.1		+	ENST00000256578.3	Missense_Mutation	SNP	1 : 110172946 - 110172946 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	954	6
APOA4	337	broad.mit.edu	37	11	116691783	116691783	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:116691783G>A	ENST00000357780.3	-	3	1105	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_000482.3	NP_000473.2			apolipoprotein A-IV	NA										cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCCGCATGGGGGCCCAGTTTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	66	67			NA	NA	11		NA											NA				116691783		2201	4292	6493	SO:0001583	missense				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244	337	337		Apolipoproteins	602	protein-coding gene	gene with protein product		107690			NA		Standard	NM_000482	NM_000482	NA	Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.991C>T	11.37:g.116691783G>A	ENSP00000350425:p.Pro331Ser	NA		37	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340577	0.41498	.	.	ENSG00000110244	ENST00000357780	T	0.76316	-1.01	5.39	4.46	0.54185	Apolipoprotein/apolipophorin (1);	0.377447	0.26019	N	0.026825	T	0.73016	0.3533	M	0.64676	1.99	0.29390	N	0.862669	P	0.50272	0.933	P	0.45167	0.472	T	0.69394	-0.5157	10	0.29301	T	0.29	-39.6749	7.0255	0.24938	0.142:0.0:0.7148:0.1432	.	331	P06727	APOA4_HUMAN	S	331	ENSP00000350425:P331S	ENSP00000350425:P331S	P	-	1	0	APOA4	116196993	0.241000	0.23857	0.999000	0.59377	0.626000	0.37791	1.085000	0.30840	2.522000	0.85027	0.557000	0.71058	CCC	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106279.2		-	ENST00000357780.3	Missense_Mutation	SNP	11 : 116691783 - 116691783 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	531	102
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:157522425G>A	ENST00000346085.5	+	18	4698	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											109	109	109			NA	NA	6		NA											NA				157522425		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.4697G>A	6.37:g.157522425G>A	ENSP00000344546:p.Arg1566His	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484469	0.63962	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02421	4.61;4.62;4.6;4.6;4.3	4.94	4.94	0.65067	.	0.183542	0.46442	D	0.000292	T	0.06325	0.0163	L	0.41824	1.3	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.959;0.982;0.982	T	0.46275	-0.9203	10	0.52906	T	0.07	.	18.5459	0.91045	0.0:0.0:1.0:0.0	.	1553;1566;1548	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1566;1553;1606;1548;1075	ENSP00000344546:R1566H;ENSP00000055163:R1553H;ENSP00000356116:R1606H;ENSP00000275248:R1548H;ENSP00000412835:R1075H	ENSP00000275248:R1548H	R	+	2	0	ARID1B	157564117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.459000	0.83118	0.655000	0.94253	CGC	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157522425 - 157522425 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	580	9
ARMC7	79637	broad.mit.edu	37	17	73124988	73124988	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:73124988C>T	ENST00000581078.1	+	0	725				ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000245543.1_Missense_Mutation_p.S151L			Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	NA							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TTCTCCCTCTCGGCCAGCGCC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	24			NA	NA	17		NA											NA				73124988		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449	79637	79637		Armadillo repeat containing	26168	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024585	NM_024585	NA	Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000581078.1:c.*76C>T	17.37:g.73124988C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.697716	0.88830	.	.	ENSG00000125449	ENST00000245543	T	0.56444	0.46	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.071680	0.64402	D	0.000016	T	0.70228	0.3200	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.73219	-0.4052	10	0.72032	D	0.01	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	151	Q9H6L4	ARMC7_HUMAN	L	151	ENSP00000245543:S151L	ENSP00000245543:S151L	S	+	2	0	ARMC7	70636583	1.000000	0.71417	0.977000	0.42913	0.480000	0.33159	7.771000	0.85420	2.595000	0.87683	0.655000	0.94253	TCG	ARMC7-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445843.1		+	ENST00000581078.1	3'UTR	SNP	17 : 73124988 - 73124988 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	110	32
ATP2C1	27032	broad.mit.edu	37	3	130718462	130718462	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:130718462C>G	ENST00000510168.1	+	27	3138	c.2588C>G	c.(2587-2589)cCg>cGg	p.P863R	ATP2C1_ENST00000508532.1_Missense_Mutation_p.P863R|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P847R|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P863R|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P897R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P808R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P863R|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P858R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P847R			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	863					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TACTTTCCTCCGCTTCAGAAG	0.343		NA							Hailey-Hailey disease					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(99;456 1443 27647 34099 42636)							NA				0													112	105	108			NA	NA	3		NA											NA				130718462		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	27032	27032	3.6.3.8	ATPases / P-type	13211	protein-coding gene	gene with protein product	secretory pathway Ca2+/Mn2+ ATPase 1, calcium-transporting ATPase type 2C member 1	604384	benign chronic pemphigus (Hailey-Hailey disease)	BCPM	NA	10615129, 10767338	Standard	NM_001001486	NM_001001485	NA	Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2588C>G	3.37:g.130718462C>G	ENSP00000427461:p.Pro863Arg	NA	B2RAT7|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	37	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.678165|4.678165	0.88542|0.88542	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89123|.	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47|.	5.91|5.91	5.91|5.91	0.95273|0.95273	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87107|0.87107	0.6095|0.6095	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.91635|.	0.999;0.999;0.996;0.999;0.996;0.999;0.999|.	D|D	0.89107|0.89107	0.3493|0.3493	10|5	0.41790|.	T|.	0.15|.	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	897;858;897;863;897;863;863|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	R|G	847;808;847;897;858;863;863;847;847;863;863;863;863;862|817	ENSP00000423774:P847R;ENSP00000425320:P808R;ENSP00000421326:P847R;ENSP00000376914:P897R;ENSP00000432956:P858R;ENSP00000427461:P863R;ENSP00000424783:P863R;ENSP00000423330:P847R;ENSP00000422872:P847R;ENSP00000329664:P863R;ENSP00000395809:P863R;ENSP00000352665:P863R;ENSP00000402677:P863R|.	ENSP00000329664:P863R|.	P|R	+|+	2|1	0|0	ATP2C1|ATP2C1	132201152|132201152	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.925000|0.925000	0.55904|0.55904	7.812000|7.812000	0.86109|0.86109	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCG|CGC	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356648.2		+	ENST00000510168.1	Missense_Mutation	SNP	3 : 130718462 - 130718462 G PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	261	41
ATP7A	538	broad.mit.edu	37	X	77244909	77244909	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:77244909A>T	ENST00000341514.6	+	4	946	c.791A>T	c.(790-792)gAa>gTa	p.E264V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E264V	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	264					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAATCCTCAGAAGGGTCACAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	143	149			NA	NA	X		NA											NA				77244909		2203	4296	6499	SO:0001583	missense			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	538	538	3.6.3.4	ATPases / P-type	869	protein-coding gene	gene with protein product	copper pump 1, copper-transporting ATPase 1	300011	Menkes syndrome	MNK	NA	10079817	Standard	NM_000052	NM_000052	NA	Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.791A>T	X.37:g.77244909A>T	ENSP00000345728:p.Glu264Val	NA	B1AT72|O00227|O00745|Q9BYY8	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	3.798	-0.042338	0.07452	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.96334	-3.98;-3.98	4.78	2.24	0.28232	.	0.471910	0.20943	N	0.082889	D	0.95519	0.8544	M	0.88450	2.955	0.80722	D	1	B;B	0.28783	0.002;0.222	B;B	0.35688	0.007;0.208	D	0.91217	0.5003	10	0.30078	T	0.28	-11.1068	4.7038	0.12839	0.5353:0.2948:0.1699:0.0	.	264;274	Q04656;Q59HD1	ATP7A_HUMAN;.	V	264;264;264;274	ENSP00000343026:E264V;ENSP00000345728:E264V	ENSP00000345728:E264V	E	+	2	0	ATP7A	77131565	0.959000	0.32827	0.899000	0.35326	0.225000	0.24961	1.880000	0.39628	0.694000	0.31654	0.422000	0.28245	GAA	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057306.1		+	ENST00000341514.6	Missense_Mutation	SNP	X : 77244909 - 77244909 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	238	114
BTBD7	55727	broad.mit.edu	37	14	93709084	93709084	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:93709084G>A	ENST00000334746.5	-	11	3241	c.2934C>T	c.(2932-2934)taC>taT	p.Y978Y	BTBD7_ENST00000554565.1_Silent_p.Y627Y|BTBD7_ENST00000393170.2_Silent_p.Y552Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	978										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TATTGTGGCTGTACAGATCGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	133	138			NA	NA	14		NA											NA				93709084		2203	4300	6503	SO:0001819	synonymous_variant			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114	55727	55727		BTB/POZ domain containing	18269	protein-coding gene	gene with protein product		610386			NA	10819331, 11527404	Standard	NM_001002860	NM_001289133	NA	Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2934C>T	14.37:g.93709084G>A		NA	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	37	CCDS32146.1																																																																																			BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412701.1		-	ENST00000334746.5	Silent	SNP	14 : 93709084 - 93709084 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	524	5
C1RL	51279	broad.mit.edu	37	12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:7254566G>A	ENST00000545280.1	-	2	172				C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000266542.4_Missense_Mutation_p.R140C			Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	NA					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCTGTGTGCGGAAGGTCAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	111			NA	NA	12		NA											NA				7254566		2203	4300	6503	SO:0001627	intron_variant			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178	51279	51279			21265	protein-coding gene	gene with protein product		608974			NA	12838346	Standard	NM_016546	XM_005253385	NA	Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000545280.1:c.155+33C>T	12.37:g.7254566G>A		NA	Q53GX9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339585|0.339585	0.11069|0.11069	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.30448	.|1.53;1.53;1.53;1.53	3.76|3.76	-0.133|-0.133	0.13485|0.13485	.|CUB (5);	.|1.399260	.|0.04433	.|N	.|0.369511	T|T	0.35799|0.35799	0.0944|0.0944	M|M	0.88640|0.88640	2.97|2.97	0.24098|0.24098	N|N	0.995883|0.995883	.|B;B;B	.|0.33919	.|0.432;0.038;0.285	.|B;B;B	.|0.27887	.|0.051;0.007;0.084	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.45353	.|T	.|0.12	.|.	3.3529|3.3529	0.07159|0.07159	0.2989:0.0:0.5228:0.1783|0.2989:0.0:0.5228:0.1783	.|.	.|140;140;140	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	L|C	39|140	.|ENSP00000266542:R140C;ENSP00000441885:R140C;ENSP00000437398:R140C;ENSP00000442611:R140C	.|ENSP00000266542:R140C	P|R	-|-	2|1	0|0	C1RL|C1RL	7145842|7145842	0.147000|0.147000	0.22687|0.22687	0.103000|0.103000	0.21229|0.21229	0.289000|0.289000	0.27227|0.27227	0.193000|0.193000	0.17116|0.17116	-0.034000|-0.034000	0.13713|0.13713	-1.529000|-1.529000	0.00923|0.00923	CCG|CGC	C1RL-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398366.1		-	ENST00000545280.1	Intron	SNP	12 : 7254566 - 7254566 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	618	6
C5AR1	728	broad.mit.edu	37	19	47823129	47823129	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:47823129C>T	ENST00000355085.3	+	2	117	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	32					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.T32M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACTTCTAACACGCTGCGTGTT	0.532		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)											168	142	150			NA	NA	19		NA											NA				47823129		2203	4300	6503	SO:0001583	missense				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405	728	728		CD molecules, Complement system, GPCR / Class A : Complement component receptors	1338	protein-coding gene	gene with protein product		113995	complement component 5 receptor 1 (C5a ligand)	C5R1	NA	1612600	Standard	NM_001736	NM_001736	NA	Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.95C>T	19.37:g.47823129C>T	ENSP00000347197:p.Thr32Met	NA		37	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030611	0.19512	.	.	ENSG00000197405	ENST00000355085	T	0.37411	1.2	3.85	-7.7	0.01259	.	0.484862	0.17251	U	0.181174	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.38296	0.27	T	0.32771	-0.9894	10	0.48119	T	0.1	.	2.3954	0.04388	0.2001:0.3146:0.3273:0.158	.	32	P21730	C5AR_HUMAN	M	32	ENSP00000347197:T32M	ENSP00000347197:T32M	T	+	2	0	C5AR1	52514969	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.504000	0.00449	-2.504000	0.00508	-0.792000	0.03331	ACG	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466925.1		+	ENST00000355085.3	Missense_Mutation	SNP	19 : 47823129 - 47823129 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	373	70
C7	730	broad.mit.edu	37	5	40981607	40981607	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:40981607G>A	ENST00000313164.9	+	18	2823	c.2464G>A	c.(2464-2466)Gct>Act	p.A822T		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Complement control factor I module 2.			GA -> AL (in Ref. 3).	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					NA		Ovarian(839;0.0112)				TGAGGCGGGCGCTCTGAGATG	0.567		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	5		NA											NA				40981607		2106	4232	6338	SO:0001583	missense			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936	730	730		Complement system	1346	protein-coding gene	gene with protein product		217070			NA		Standard		NM_000587	NA	Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2464G>A	5.37:g.40981607G>A	ENSP00000322061:p.Ala822Thr	NA	Q6P3T5|Q92489	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	4.186	0.033170	0.08101	.	.	ENSG00000112936	ENST00000313164	T	0.65364	-0.15	5.83	-0.108	0.13588	Factor I / membrane attack complex (1);	1.811360	0.02513	N	0.091774	T	0.48857	0.1523	L	0.37850	1.14	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10200	-1.0640	10	0.27082	T	0.32	0.8429	2.9604	0.05890	0.462:0.1118:0.3117:0.1144	.	822	P10643	CO7_HUMAN	T	822	ENSP00000322061:A822T	ENSP00000322061:A822T	A	+	1	0	C7	41017364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.255000	0.08769	-0.082000	0.12640	-0.992000	0.02543	GCT	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317680.1		+	ENST00000313164.9	Missense_Mutation	SNP	5 : 40981607 - 40981607 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	138	26
CAMSAP3	57662	broad.mit.edu	37	19	7682262	7682262	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:7682262G>A	ENST00000446248.2	+	17	3445	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R1088H	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1088	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGGAAGCCGCGAACGGGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	75	72			NA	NA	19		NA											NA				7682262		2053	4182	6235	SO:0001583	missense			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826	57662	57662			29307	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 80	612685	KIAA1543	KIAA1543	NA	11318610, 10819331, 19041755, 19508979	Standard	XM_048362	NM_001080429	NA	Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000446248.2:c.3344G>A	19.37:g.7682262G>A	ENSP00000416797:p.Arg1115His	NA	Q8NDF1	37	CCDS45947.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957696	0.53400	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15256	2.44;2.44	4.97	3.94	0.45596	.	0.218217	0.39407	N	0.001369	T	0.32823	0.0842	L	0.57536	1.79	0.09310	N	1	D;B;D	0.76494	0.998;0.168;0.999	P;B;D	0.68192	0.904;0.007;0.956	T	0.05178	-1.0901	10	0.54805	T	0.06	-19.3716	9.0656	0.36460	0.1791:0.0:0.8209:0.0	.	1099;1088;1115	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	H	1115;1088	ENSP00000416797:R1115H;ENSP00000160298:R1088H	ENSP00000160298:R1088H	R	+	2	0	KIAA1543	7588262	1.000000	0.71417	0.454000	0.27019	0.562000	0.35680	4.169000	0.58223	1.094000	0.41399	0.462000	0.41574	CGC	CAMSAP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459301.2		+	ENST00000446248.2	Missense_Mutation	SNP	19 : 7682262 - 7682262 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	443	86
CARD11	84433	broad.mit.edu	37	7	2984085	2984085	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:2984085G>A	ENST00000396946.4	-	5	848	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	149					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCTCGCAGCGTTGCAGGTCC	0.607		NA	Mis		DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p22	84433	caspase recruitment domain family, member 11		L	0													94	86	89			NA	NA	7		NA											NA				2984085		2203	4300	6503	SO:0001583	missense			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286	84433	84433			16393	protein-coding gene	gene with protein product	card-maguk protein 1, bcl10-interacting maguk protein 3	607210			NA	11278692, 11356195	Standard	NM_032415	NM_032415	NA	Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.445C>T	7.37:g.2984085G>A	ENSP00000380150:p.Arg149Cys	NA	A4D1Z7|Q2NKN7|Q548H3	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124918	0.56613	.	.	ENSG00000198286	ENST00000396946	T	0.35048	1.33	4.38	4.38	0.52667	.	0.370990	0.28766	N	0.014207	T	0.44265	0.1285	L	0.43152	1.355	0.58432	D	0.999992	D	0.76494	0.999	P	0.55871	0.786	T	0.42799	-0.9430	10	0.72032	D	0.01	-31.7767	12.44	0.55619	0.0:0.0:0.8323:0.1677	.	149	Q9BXL7	CAR11_HUMAN	C	149	ENSP00000380150:R149C	ENSP00000380150:R149C	R	-	1	0	CARD11	2950611	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.048000	0.57390	2.153000	0.67306	0.655000	0.94253	CGC	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059344.4		-	ENST00000396946.4	Missense_Mutation	SNP	7 : 2984085 - 2984085 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	651	100
CCPG1	9236	broad.mit.edu	37	15	55652689	55652689	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:55652689G>A	ENST00000310958.6	-	8	1580	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	CCPG1_ENST00000442196.3_Missense_Mutation_p.R428W|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.R428W	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	428					cell cycle	integral to membrane		p.R428W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGTCTTTCCCGTAAGATTGCT	0.423		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)											176	164	168			NA	NA	15		NA											NA				55652689		1873	4119	5992	SO:0001583	missense			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916	9236	9236			24227	protein-coding gene	gene with protein product		611326			NA	9383053, 10574462	Standard	NM_004748	NM_004748	NA	Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1282C>T	15.37:g.55652689G>A	ENSP00000311656:p.Arg428Trp	NA	A0PJH3|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844189	0.32606	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.38887	1.11;1.11	5.73	1.51	0.23008	.	0.193348	0.46758	D	0.000272	T	0.56124	0.1964	L	0.59436	1.845	0.09310	N	0.999992	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	P;P;P;P	0.62014	0.897;0.897;0.897;0.897	T	0.56956	-0.7893	10	0.87932	D	0	.	15.1991	0.73120	0.0:0.0:0.3862:0.6138	.	428;428;428;284	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	W	428	ENSP00000311656:R428W;ENSP00000403400:R428W	ENSP00000311656:R428W	R	-	1	2	DYX1C1	53439981	1.000000	0.71417	0.055000	0.19348	0.516000	0.34256	1.902000	0.39848	0.083000	0.17047	-0.182000	0.12963	CGG	CCPG1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419850.1		-	ENST00000310958.6	Missense_Mutation	SNP	15 : 55652689 - 55652689 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	761	6
CDH11	1009	broad.mit.edu	37	16	65032559	65032559	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:65032559C>T	ENST00000394156.3	-	4	882	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH11_ENST00000566827.1_Silent_p.S17S|CDH11_ENST00000268603.4_Silent_p.S143S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATGAATTCCGACGGTGGCT	0.557		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0													130	105	113			NA	NA	16		NA											NA				65032559		2203	4300	6503	SO:0001819	synonymous_variant			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000394156.3:c.429G>A	16.37:g.65032559C>T		NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37		.	.	.	.	.	.	.	.	.	.	C	7.100	0.573882	0.13623	.	.	ENSG00000140937	ENST00000536902	.	.	.	5.77	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1085	0.10049	0.127:0.3975:0.2727:0.2028	.	.	.	.	.	-1	.	.	.	-	.	.	CDH11	63590060	0.000000	0.05858	0.005000	0.12908	0.809000	0.45718	-2.084000	0.01363	-3.488000	0.00154	-1.021000	0.02439	.	CDH11-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268756.1		-	ENST00000394156.3	Silent	SNP	16 : 65032559 - 65032559 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	332	64
CELA3A	10136	broad.mit.edu	37	1	22329556	22329556	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:22329556C>T	ENST00000290122.3	+	2	123	c.104C>T	c.(103-105)gCg>gTg	p.A35V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A35V	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A	NA								p.A35V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGAGGATGCGGTCCCCTAC	0.612		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)											61	90	81			NA	NA	1		NA											NA				22329556		2140	4289	6429	SO:0001583	missense			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789	10136	10136			15944	protein-coding gene	gene with protein product	protease E		elastase 3A, pancreatic (protease E), elastase 3A, pancreatic	ELA3A	NA	2826474, 2460440	Standard	NM_005747	NM_005747	NA	Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.104C>T	1.37:g.22329556C>T	ENSP00000290122:p.Ala35Val	NA		37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689677	0.68271	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.94417	2.07;-3.42	3.47	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92639	0.7661	L	0.48260	1.515	0.43756	D	0.996263	D	0.71674	0.998	P	0.52627	0.704	D	0.89403	0.3697	9	0.39692	T	0.17	-25.4813	6.7714	0.23596	0.0:0.8655:0.0:0.1345	.	35	P09093	CEL3A_HUMAN	V	35;35;51	ENSP00000290122:A35V;ENSP00000363795:A35V	ENSP00000290122:A35V	A	+	2	0	CELA3A	22202143	0.996000	0.38824	0.042000	0.18584	0.880000	0.50808	3.389000	0.52516	0.781000	0.33589	0.400000	0.26472	GCG	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007791.1		+	ENST00000290122.3	Missense_Mutation	SNP	1 : 22329556 - 22329556 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	443	5
CELF4	56853	broad.mit.edu	37	18	34854360	34854360	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr18:34854360G>A	ENST00000591287.1	-	6	818	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	CELF4_ENST00000412753.1_Missense_Mutation_p.R239W|CELF4_ENST00000603232.1_Missense_Mutation_p.R239W|CELF4_ENST00000420428.2_Missense_Mutation_p.R239W|CELF4_ENST00000588597.1_Missense_Mutation_p.R228W|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R229W|CELF4_ENST00000361795.5_Missense_Mutation_p.R238W|CELF4_ENST00000591282.1_Missense_Mutation_p.R239W|CELF4_ENST00000601019.1_Missense_Mutation_p.R238W			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	239	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.R239W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCATTCGCCGCATCGTGCGC	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)	large_intestine(1)											103	85	91			NA	NA	18		NA											NA				34854360		2203	4300	6503	SO:0001583	missense			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19			56853	56853		RNA binding motif (RRM) containing	14015	protein-coding gene	gene with protein product		612679	Bruno (Drosophila) -like 4, RNA binding protein, bruno-like 4, RNA binding protein (Drosophila)	BRUNOL4	NA	10893231	Standard	NM_020180	NM_020180	NA	Approved		uc002lae.2	Q9BZC1		ENST00000591287.1:c.712C>T	18.37:g.34854360G>A	ENSP00000464917:p.Arg238Trp	NA	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.159388	0.78226	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T;T	0.06449	3.3;3.31;3.31	4.55	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;1.0;0.999;0.996	T	0.19614	-1.0300	10	0.87932	D	0	-12.5849	12.0837	0.53686	0.0:0.0:0.7247:0.2753	.	238;228;229;238;239	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	W	239;239;238;229;122	ENSP00000355089:R239W;ENSP00000406823:R239W;ENSP00000335631:R229W	ENSP00000335631:R229W	R	-	1	2	CELF4	33108358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.280000	0.43443	2.373000	0.80994	0.561000	0.74099	CGG	CELF4-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000440888.1		-	ENST00000591287.1	Missense_Mutation	SNP	18 : 34854360 - 34854360 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	632	5
CHRM1	1128	broad.mit.edu	37	11	62677297	62677297	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:62677297G>A	ENST00000306960.3	-	2	1817	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AAGGTGTCCCGGAAGGCTTTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	158	160			NA	NA	11		NA											NA				62677297		2201	4298	6499	SO:0001583	missense			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539	1128	1128		Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic	1950	protein-coding gene	gene with protein product	acetylcholine receptor, muscarinic 1	118510			NA		Standard	NM_000738	NM_000738	NA	Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1276C>T	11.37:g.62677297G>A	ENSP00000306490:p.Arg426Trp	NA		37	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966720	0.53507	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.58358	0.34;0.34	3.98	1.97	0.26223	.	0.792889	0.10240	N	0.698549	T	0.64972	0.2647	L	0.57536	1.79	0.39146	D	0.962134	D	0.89917	1.0	D	0.64321	0.924	T	0.62148	-0.6915	10	0.87932	D	0	-13.9234	9.6941	0.40147	0.0:0.0:0.4009:0.5991	.	426	P11229	ACM1_HUMAN	W	426	ENSP00000306490:R426W;ENSP00000441188:R426W	ENSP00000306490:R426W	R	-	1	2	CHRM1	62433873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.136000	0.64783	0.263000	0.21812	0.561000	0.74099	CGG	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396178.1		-	ENST00000306960.3	Missense_Mutation	SNP	11 : 62677297 - 62677297 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	816	6
CKAP5	9793	broad.mit.edu	37	11	46780946	46780946	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:46780946G>A	ENST00000529230.1	-	34	4487	c.4441C>T	c.(4441-4443)Cgc>Tgc	p.R1481C	CKAP5_ENST00000415402.1_Missense_Mutation_p.R1481C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1481C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1481C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1481					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AATTCTCGGCGGACCATCTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				0													107	101	103			NA	NA	11		NA											NA				46780946		2201	4299	6500	SO:0001583	missense				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4441C>T	11.37:g.46780946G>A	ENSP00000432768:p.Arg1481Cys	NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.896803|3.896803	0.72639|0.72639	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000527333|ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	.|T;T;T;T	.|0.48201	.|0.84;0.85;0.82;0.82	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.094061	.|0.85682	.|D	.|0.000000	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.14661|0.14661	0.345|0.345	0.51767|0.51767	D|D	0.999933|0.999933	.|P;P;P	.|0.49447	.|0.924;0.894;0.83	.|B;B;B	.|0.39840	.|0.235;0.311;0.165	T|T	0.23084|0.23084	-1.0198|-1.0198	5|10	.|0.44086	.|T	.|0.13	-9.5534|-9.5534	19.8389|19.8389	0.96675|0.96675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1481;1481;1481	.|Q14008-3;Q14008-2;Q14008	.|.;.;CKAP5_HUMAN	L|C	37|1481;1481;1481;1481;212	.|ENSP00000432768:R1481C;ENSP00000395302:R1481C;ENSP00000310227:R1481C;ENSP00000346566:R1481C	.|ENSP00000310227:R1481C	P|R	-|-	2|1	0|0	CKAP5|CKAP5	46737522|46737522	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.753000|7.753000	0.85153|0.85153	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	CCG|CGC	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Missense_Mutation	SNP	11 : 46780946 - 46780946 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	353	5
CLMN	79789	broad.mit.edu	37	14	95677190	95677190	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:95677190G>A	ENST00000298912.4	-	7	748	c.635C>T	c.(634-636)gCg>gTg	p.A212V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCAACTGCCCGCAAAGTCCTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	97			NA	NA	14		NA											NA				95677190		2203	4300	6503	SO:0001583	missense			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959	79789	79789			19972	protein-coding gene	gene with protein product		611121			NA	11386753	Standard		NM_024734	NA	Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.635C>T	14.37:g.95677190G>A	ENSP00000298912:p.Ala212Val	NA	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119023	0.94385	.	.	ENSG00000165959	ENST00000298912	T	0.59638	0.25	5.93	5.93	0.95920	Calponin homology domain (5);	0.000000	0.39341	N	0.001394	T	0.59797	0.2220	N	0.14661	0.345	0.80722	D	1	D	0.63046	0.992	P	0.57468	0.821	T	0.65113	-0.6247	10	0.72032	D	0.01	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	212	Q96JQ2	CLMN_HUMAN	V	212	ENSP00000298912:A212V	ENSP00000298912:A212V	A	-	2	0	CLMN	94746943	1.000000	0.71417	0.260000	0.24451	0.983000	0.72400	6.642000	0.74329	2.797000	0.96272	0.655000	0.94253	GCG	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414518.2		-	ENST00000298912.4	Missense_Mutation	SNP	14 : 95677190 - 95677190 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	688	7
CNIH3	149111	broad.mit.edu	37	1	224868727	224868727	+	Splice_Site	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:224868727C>T	ENST00000272133.3	+	2	1031	c.149C>T	c.(148-150)gCg>gTg	p.A50V		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	50					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCTGTTCATGCGGTAAGTGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	112	113			NA	NA	1		NA											NA				224868727		2203	4300	6503	SO:0001630	splice_region_variant			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786	149111	149111			26802	protein-coding gene	gene with protein product			cornichon homolog 3 (Drosophila)		NA	8619474, 9110174	Standard	NM_152495	NM_152495	NA	Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.150+1C>T	1.37:g.224868727C>T		NA		37	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386315	0.82902	.	.	ENSG00000143786	ENST00000272133	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	L	0.29908	0.895	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.69800	-0.5047	9	0.59425	D	0.04	-0.2012	17.7753	0.88505	0.0:1.0:0.0:0.0	.	50	Q8TBE1	CNIH3_HUMAN	V	50	.	ENSP00000272133:A50V	A	+	2	0	CNIH3	222935350	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.322000	0.65852	2.504000	0.84457	0.551000	0.68910	GCG	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091752.2	Missense_Mutation	+	ENST00000272133.3	Splice_Site	SNP	1 : 224868727 - 224868727 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	363	60
COL12A1	1303	broad.mit.edu	37	6	75901461	75901461	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:75901461G>A	ENST00000322507.8	-	5	659	c.350C>T	c.(349-351)tCg>tTg	p.S117L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S117L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S117L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	117					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGCTTTGTCGAACTACCTGT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	135	137			NA	NA	6		NA											NA				75901461		1798	4055	5853	SO:0001583	missense			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.350C>T	6.37:g.75901461G>A	ENSP00000325146:p.Ser117Leu	NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967274	0.34754	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.86769	-2.17;-2.16;-2.15	5.97	5.97	0.96955	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.488510	0.20737	N	0.086602	T	0.56232	0.1971	N	0.08118	0	0.21579	N	0.99963	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	10	0.22706	T	0.39	.	8.1231	0.30982	0.0784:0.0:0.7627:0.1589	.	117	Q99715	COCA1_HUMAN	L	117	ENSP00000325146:S117L;ENSP00000412864:S117L;ENSP00000421216:S117L	ENSP00000325146:S117L	S	-	2	0	COL12A1	75958181	0.123000	0.22298	0.822000	0.32727	0.868000	0.49771	1.943000	0.40253	2.833000	0.97629	0.585000	0.79938	TCG	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Missense_Mutation	SNP	6 : 75901461 - 75901461 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	440	60
COL5A2	1290	broad.mit.edu	37	2	189929337	189929337	+	Silent	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:189929337T>C	ENST00000374866.3	-	25	1936	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	554					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGCTTCCTTTGGGTCCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	59	58			NA	NA	2		NA											NA				189929337		2203	4300	6503	SO:0001819	synonymous_variant			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1662A>G	2.37:g.189929337T>C		NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1																																																																																			COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Silent	SNP	2 : 189929337 - 189929337 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	428	58
COL6A2	1292	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	rs140020002		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	2,4402	4.2+/-10.8	0,2,2200	70	58	62		2938	4.4	1	21	dbSNP_134	62	0,8600		0,0,4300	no	missense	COL6A2	NM_001849.3	21	0,2,6500	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging	980/1020	47552344	2,13002	2202	4300	6502	SO:0001583	missense			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2938G>A	21.37:g.47552344G>A	ENSP00000300527:p.Val980Met	NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	COL6A2	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Missense_Mutation	SNP	21 : 47552344 - 47552344 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	175	42
CPA3	1359	broad.mit.edu	37	3	148599357	148599357	+	Nonsense_Mutation	SNP	C	C	T	rs141357361	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:148599357C>T	ENST00000296046.3	+	7	677	c.625C>T	c.(625-627)Cga>Tga	p.R209*	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.R209R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCTTGGACCGAATGAATTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											124	121	122			NA	NA	3		NA											NA				148599357		2203	4300	6503	SO:0001587	stop_gained				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	1359	1359	3.4.17.1		2298	protein-coding gene	gene with protein product	mast cell carboxypeptidase A, tissue carboxypeptidase A	114851			NA		Standard	NM_001870	NM_001870	NA	Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.625C>T	3.37:g.148599357C>T	ENSP00000296046:p.Arg209*	NA	Q96E94	37	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071142	0.76301	.	.	ENSG00000163751	ENST00000296046	.	.	.	5.06	3.09	0.35607	.	0.546116	0.18299	N	0.145492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.9886	0.47537	0.5206:0.4794:0.0:0.0	.	.	.	.	X	209	.	ENSP00000296046:R209X	R	+	1	2	CPA3	150082047	0.162000	0.22906	0.643000	0.29450	0.200000	0.23975	1.401000	0.34589	1.325000	0.45301	-0.182000	0.12963	CGA	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355974.1		+	ENST00000296046.3	Nonsense_Mutation	SNP	3 : 148599357 - 148599357 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	317	37
DGAT1	8694	broad.mit.edu	37	8	145541605	145541605	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:145541605C>T	ENST00000332324.4	-	9	1100	c.827G>A	c.(826-828)cGc>cAc	p.R276H	DGAT1_ENST00000531896.1_Silent_p.A306A	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	276					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCAGAAAGCGCTTCCGGAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	35	33			NA	NA	8		NA											NA				145541605		2202	4293	6495	SO:0001583	missense			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	8694	8694	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	diacylglycerol O-acyltransferase homolog 1 (mouse)		NA	9756920	Standard	NM_012079	NM_012079	NA	Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.827G>A	8.37:g.145541605C>T	ENSP00000332258:p.Arg276His	NA	B2RWQ2|D3DWL6|Q96BB8	37	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213109	0.79352	.	.	ENSG00000185000	ENST00000332324	T	0.72942	-0.7	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.66439	2.03	0.80722	D	1	P	0.46457	0.878	B	0.36845	0.234	T	0.71457	-0.4587	10	0.42905	T	0.14	-15.1045	15.3179	0.74095	0.0:1.0:0.0:0.0	.	276	O75907	DGAT1_HUMAN	H	276	ENSP00000332258:R276H	ENSP00000332258:R276H	R	-	2	0	DGAT1	145512413	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.047000	0.76599	2.481000	0.83766	0.555000	0.69702	CGC	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382059.3		-	ENST00000332324.4	Missense_Mutation	SNP	8 : 145541605 - 145541605 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	205	8
DNAH1	25981	broad.mit.edu	37	3	52392752	52392752	+	Splice_Site	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:52392752C>T	ENST00000420323.2	+	25	4526	c.4265C>T	c.(4264-4266)aCg>aTg	p.T1422M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1422	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTACCCCACGGTGAGCCGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	42	40			NA	NA	3		NA											NA				52392752		2154	4260	6414	SO:0001630	splice_region_variant			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4266+1C>T	3.37:g.52392752C>T		NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	c	14.44	2.535864	0.45176	.	.	ENSG00000114841	ENST00000420323	T	0.57752	0.38	5.4	-1.98	0.07480	.	1.606480	0.03543	N	0.224331	T	0.55353	0.1915	M	0.85197	2.74	0.09310	N	1	P	0.38767	0.646	B	0.36989	0.238	T	0.52223	-0.8604	10	0.52906	T	0.07	.	6.2438	0.20805	0.4428:0.3398:0.0:0.2173	.	1422	C9JXH6	.	M	1422	ENSP00000401514:T1422M	ENSP00000401514:T1422M	T	+	2	0	DNAH1	52367792	0.000000	0.05858	0.032000	0.17829	0.425000	0.31504	0.412000	0.21131	-0.236000	0.09753	-0.119000	0.15052	ACG	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1	Missense_Mutation	+	ENST00000420323.2	Splice_Site	SNP	3 : 52392752 - 52392752 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	221	22
DNAJC13	23317	broad.mit.edu	37	3	132175223	132175223	+	Silent	SNP	C	C	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:132175223C>A	ENST00000260818.6	+	10	1325	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	359							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCCTTCACCTCAGGTTCTTAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	90			NA	NA	3		NA											NA				132175223		2203	4300	6503	SO:0001819	synonymous_variant			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246	23317	23317		Heat shock proteins / DNAJ (HSP40)	30343	protein-coding gene	gene with protein product		614334			NA	12438707	Standard	NM_015268	NM_015268	NA	Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1077C>A	3.37:g.132175223C>A		NA	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	37	CCDS33857.1																																																																																			DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356807.2		+	ENST00000260818.6	Silent	SNP	3 : 132175223 - 132175223 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	308	54
DOCK10	55619	broad.mit.edu	37	2	225651759	225651759	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:225651759G>A	ENST00000409592.3	-	50	5730	c.5617C>T	c.(5617-5619)Cgt>Tgt	p.R1873C	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1879C			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1879	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATGCCACACGATAGTAGCGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	119	121			NA	NA	2		NA											NA				225651759		1901	4114	6015	SO:0001583	missense			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905	55619	55619		Pleckstrin homology (PH) domain containing	23479	protein-coding gene	gene with protein product	zizimin3	611518			NA	12432077	Standard		NM_014689	NA	Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000409592.3:c.5617C>T	2.37:g.225651759G>A	ENSP00000386694:p.Arg1873Cys	NA	O75178|Q9NW06|Q9NXI8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.238466|4.238466	0.79800|0.79800	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.32988|.	1.43;1.43|.	5.99|5.99	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.93507|0.93507	3.425|3.425	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.994;1.0;0.991;0.997|.	D|D	0.89507|0.89507	0.3768|0.3768	10|5	0.87932|.	D|.	0|.	.|.	15.2244|15.2244	0.73339|0.73339	0.0:0.0:0.7376:0.2624|0.0:0.0:0.7376:0.2624	.|.	1879;700;1873;541|.	Q96BY6;B4DF07;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.;.|.	C|L	1873;1879;384|26	ENSP00000386694:R1873C;ENSP00000258390:R1879C|.	ENSP00000258390:R1879C|.	R|S	-|-	1|2	0|0	DOCK10|DOCK10	225360003|225360003	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.329000|4.329000	0.59260|0.59260	1.477000|1.477000	0.48234|0.48234	0.655000|0.655000	0.94253|0.94253	CGT|TCG	DOCK10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000331158.2		-	ENST00000409592.3	Missense_Mutation	SNP	2 : 225651759 - 225651759 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	512	81
DPP6	1804	broad.mit.edu	37	7	154667694	154667694	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:154667694C>T	ENST00000404039.1	+	20	2357	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000377770.3_Silent_p.G654G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCCACGGCGCGGTGGTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(125;1384 1783 2490 7422 34254)							NA				0													29	36	33			NA	NA	7		NA											NA				154667694		2076	4202	6278	SO:0001819	synonymous_variant			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226	1804	1804			3010	protein-coding gene	gene with protein product		126141	dipeptidylpeptidase VI, dipeptidylpeptidase 6		NA	1729689	Standard	NM_130797	XM_006715871	NA	Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.1770C>T	7.37:g.154667694C>T		NA		37																																																																																				DPP6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000322930.1		+	ENST00000404039.1	Silent	SNP	7 : 154667694 - 154667694 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	157	12
DST	667	broad.mit.edu	37	6	56492887	56492887	+	Nonsense_Mutation	SNP	C	C	T	rs149154059		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:56492887C>T	ENST00000361203.3	-	29	3922	c.3915G>A	c.(3913-3915)tgG>tgA	p.W1305*	DST_ENST00000446842.2_Nonsense_Mutation_p.W979*|DST_ENST00000370788.2_Nonsense_Mutation_p.W1305*|DST_ENST00000518935.1_Nonsense_Mutation_p.W979*|DST_ENST00000421834.2_Nonsense_Mutation_p.W1305*|DST_ENST00000370754.5_Nonsense_Mutation_p.W1483*|DST_ENST00000370765.6_Nonsense_Mutation_p.W979*|DST_ENST00000312431.6_Nonsense_Mutation_p.W1305*|DST_ENST00000370769.4_Nonsense_Mutation_p.W1305*|DST_ENST00000244364.6_Nonsense_Mutation_p.W979*			Q03001	DYST_HUMAN	dystonin	1305					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)			CCTGCTGGATCCAATCATCTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	131	134			NA	NA	6		NA											NA				56492887		2203	4300	6503	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.3915G>A	6.37:g.56492887C>T	ENSP00000354508:p.Trp1305*	NA	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	37		.	.	.	.	.	.	.	.	.	.	C	42	9.322677	0.99137	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6695	0.95905	0.0:1.0:0.0:0.0	.	.	.	.	X	979;1483;1305;1305;979;1305;1305;1305;979;1345;979;979	.	ENSP00000244364:W979X	W	-	3	0	DST	56600846	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.880000	0.69698	2.701000	0.92244	0.650000	0.86243	TGG	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000041021.3		-	ENST00000361203.3	Nonsense_Mutation	SNP	6 : 56492887 - 56492887 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	279	16
ELAVL2	1993	broad.mit.edu	37	9	23692693	23692693	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:23692693A>C	ENST00000397312.2	-	7	1216	c.942T>G	c.(940-942)aaT>aaG	p.N314K	ELAVL2_ENST00000223951.6_Missense_Mutation_p.N301K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N344K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	314	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTTTGCATTTATTGGTGTTAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	124			NA	NA	9		NA											NA				23692693		2203	4300	6503	SO:0001583	missense			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105	1993	1993		RNA binding motif (RRM) containing	3313	protein-coding gene	gene with protein product	Hu antigen B	601673	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2, ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)		NA	8812435	Standard	NM_004432	NM_004432	NA	Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.942T>G	9.37:g.23692693A>C	ENSP00000380479:p.Asn314Lys	NA	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913291	0.33815	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.94	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	L	0.28740	0.885	0.80722	D	1	P;D	0.61080	0.776;0.989	B;D	0.66497	0.377;0.944	T	0.05435	-1.0885	10	0.51188	T	0.08	.	8.3434	0.32258	0.7382:0.0:0.2618:0.0	.	314;301	Q12926;Q12926-2	ELAV2_HUMAN;.	K	301;314;314;301;314;342	ENSP00000223951:N301K;ENSP00000380479:N314K;ENSP00000440998:N314K;ENSP00000369460:N314K	ENSP00000223951:N301K	N	-	3	2	ELAVL2	23682693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.183000	0.58317	1.074000	0.40909	0.528000	0.53228	AAT	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051943.2		-	ENST00000397312.2	Missense_Mutation	SNP	9 : 23692693 - 23692693 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	559	23
ENGASE	64772	broad.mit.edu	37	17	77081767	77081767	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77081767C>T	ENST00000579016.1	+	13	1766	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	589						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCACGGCCGCCGGGTAGTCGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	17		NA											NA				77081767		2046	4201	6247	SO:0001583	missense			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	64772	64772	3.2.1.96		24622	protein-coding gene	gene with protein product	Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase, Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase	611898			NA	12114544, 18586680	Standard	NM_022759	NM_001042573	NA	Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1766C>T	17.37:g.77081767C>T	ENSP00000462333:p.Pro589Leu	NA	Q659F0|Q8TB86|Q9H6U4	37	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082790	0.08533	.	.	ENSG00000167280	ENST00000545583	.	.	.	5.12	-2.66	0.06077	.	0.740232	0.11997	N	0.509178	T	0.22820	0.0551	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.17992	-1.0351	9	0.28530	T	0.3	-14.6675	0.6221	0.00780	0.2261:0.2603:0.1292:0.3843	.	589	Q8NFI3	ENASE_HUMAN	L	589	.	ENSP00000438577:P589L	P	+	2	0	ENGASE	74593362	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.211000	0.09332	-0.062000	0.13088	0.462000	0.41574	CCG	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395807.1		+	ENST00000579016.1	Missense_Mutation	SNP	17 : 77081767 - 77081767 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	365	69
ESRRA	2101	broad.mit.edu	37	11	64082689	64082689	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:64082689G>A	ENST00000405666.1	+	6	1193	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.R319Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R320Q	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	320	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CAGGCCCTGCGGCTGGAGCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,3998		0,0,1999	22	26	25		959	4.1	0.9	11		25	1,8313		0,1,4156	no	missense	ESRRA	NM_004451.3	43	0,1,6155	AA,AG,GG	NA	0.012,0.0,0.0081	benign	320/424	64082689	1,12311	1999	4157	6156	SO:0001583	missense			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153	2101	2101		Nuclear hormone receptors	3471	protein-coding gene	gene with protein product		601998		ESRL1	NA	3267207	Standard	NM_004451	NM_004451	NA	Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.959G>A	11.37:g.64082689G>A	ENSP00000384851:p.Arg320Gln	NA	Q14514	37	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.914|9.914	1.210433|1.210433	0.22289|0.22289	0.0|0.0	1.2E-4|1.2E-4	ENSG00000173153|ENSG00000173153	ENST00000545035|ENST00000406310;ENST00000000442;ENST00000405666	.|D;D;D	.|0.96334	.|-3.98;-3.98;-3.98	4.14|4.14	4.14|4.14	0.48551|0.48551	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.192229	.|0.44483	.|D	.|0.000441	D|D	0.89269|0.89269	0.6667|0.6667	N|N	0.16903|0.16903	0.455|0.455	0.44073|0.44073	D|D	0.996821|0.996821	.|B;P	.|0.51449	.|0.033;0.945	.|B;B	.|0.31547	.|0.0;0.132	D|D	0.90139|0.90139	0.4212|0.4212	5|10	.|0.39692	.|T	.|0.17	.|.	14.3272|14.3272	0.66528|0.66528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319;320	.|P11474-2;P11474	.|.;ERR1_HUMAN	S|Q	101|319;320;320	.|ENSP00000385971:R319Q;ENSP00000000442:R320Q;ENSP00000384851:R320Q	.|ENSP00000000442:R320Q	G|R	+|+	1|2	0|0	ESRRA|ESRRA	63839265|63839265	0.082000|0.082000	0.21442|0.21442	0.944000|0.944000	0.38274|0.38274	0.203000|0.203000	0.24098|0.24098	2.216000|2.216000	0.42871|0.42871	2.309000|2.309000	0.77851|0.77851	0.462000|0.462000	0.41574|0.41574	GGC|CGG	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319304.1		+	ENST00000405666.1	Missense_Mutation	SNP	11 : 64082689 - 64082689 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	257	58
EXT2	2132	broad.mit.edu	37	11	44129401	44129401	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:44129401C>T	ENST00000343631.3	+	2	268	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	EXT2_ENST00000358681.4_Missense_Mutation_p.P47S|EXT2_ENST00000395673.3_Missense_Mutation_p.P80S|EXT2_ENST00000533608.1_Missense_Mutation_p.P47S			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	47					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGTTTTGGCCCCATTCTAT	0.527		NA	Mis, N, F, S			exostoses, osteosarcoma			Hereditary Multiple Exostoses					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													154	159	157			NA	NA	11		NA											NA				44129401		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2132	2132	2.4.1.224, 2.4.1.225	Exostosin glycosyltransferase family	3513	protein-coding gene	gene with protein product	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	608210	exostoses (multiple) 2, exostosin 2		NA	8162019, 9576285	Standard	NM_000401	NM_000401	NA	Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.139C>T	11.37:g.44129401C>T	ENSP00000342656:p.Pro47Ser	NA	B2R5Z6|O15288	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360982	0.41801	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.45	4.52	0.55395	.	0.050514	0.85682	D	0.000000	T	0.56863	0.2014	L	0.29908	0.895	0.80722	D	1	D;D;D;P;B	0.89917	1.0;0.984;0.979;0.956;0.296	D;P;P;P;B	0.83275	0.996;0.786;0.798;0.63;0.027	T	0.57636	-0.7777	10	0.44086	T	0.13	1.5466	15.282	0.73794	0.1413:0.8587:0.0:0.0	.	47;47;47;47;60	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	S	47;47;47;47;80;47	ENSP00000431173:P47S;ENSP00000433827:P47S;ENSP00000434716:P47S;ENSP00000351509:P47S;ENSP00000379032:P80S;ENSP00000342656:P47S	ENSP00000342656:P47S	P	+	1	0	EXT2	44085977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	1.253000	0.44018	0.650000	0.86243	CCC	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390074.1		+	ENST00000343631.3	Missense_Mutation	SNP	11 : 44129401 - 44129401 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	419	5
FAM107B	83641	broad.mit.edu	37	10	14816370	14816370	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:14816370G>A	ENST00000181796.2	-	1	526	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTGGGCCGCAGTGCGGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	140	141			NA	NA	10		NA											NA				14816370		2203	4300	6503	SO:0001583	missense			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809	83641	83641			23726	protein-coding gene	gene with protein product			chromosome 10 open reading frame 45	C10orf45	NA	11230166	Standard	NM_031453	XM_005252616	NA	Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.293C>T	10.37:g.14816370G>A	ENSP00000181796:p.Ala98Val	NA	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	37	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081890	0.20309	.	.	ENSG00000065809	ENST00000181796	T	0.36520	1.25	5.23	2.12	0.27331	.	0.762633	0.11158	N	0.593347	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.28902	-1.0029	10	0.13108	T	0.6	-1.9623	6.671	0.23068	0.1726:0.0:0.6788:0.1486	.	98	Q9H098-2	.	V	98	ENSP00000181796:A98V	ENSP00000181796:A98V	A	-	2	0	FAM107B	14856376	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.080000	0.30779	0.757000	0.33036	0.655000	0.94253	GCG	FAM107B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356966.1		-	ENST00000181796.2	Missense_Mutation	SNP	10 : 14816370 - 14816370 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	837	6
FAM98A	25940	broad.mit.edu	37	2	33810734	33810734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:33810734G>A	ENST00000403368.1	-	7	820	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.Q56*|FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q251*	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	252										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGTTTCGGCTGGTAAACCTTG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	2		NA											NA				33810734		2203	4300	6503	SO:0001587	stop_gained				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812	25940	25940			24520	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015475	NM_015475	NA	Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000403368.1:c.751C>T	2.37:g.33810734G>A	ENSP00000384711:p.Gln251*	NA	B2RNA2|Q9Y3Y6	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.525280	0.85600	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000441530	.	.	.	5.63	5.63	0.86233	.	0.059442	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-5.8353	20.0396	0.97574	0.0:0.0:1.0:0.0	.	.	.	.	X	251;252;251;56	.	ENSP00000238823:Q251X	Q	-	1	0	FAM98A	33664238	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	9.541000	0.98083	2.814000	0.96858	0.563000	0.77884	CAG	FAM98A-004	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000325501.1		-	ENST00000403368.1	Nonsense_Mutation	SNP	2 : 33810734 - 33810734 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	478	5
FBLN2	2199	broad.mit.edu	37	3	13672892	13672892	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:13672892G>A	ENST00000404922.3	+	16	3268	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	FBLN2_ENST00000492059.1_Missense_Mutation_p.G1050E|FBLN2_ENST00000295760.7_Missense_Mutation_p.G1003E|FBLN2_ENST00000535798.1_Missense_Mutation_p.G1029E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1033	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGTGCCAGGGAGCTACCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	3		NA											NA				13672892		2158	4257	6415	SO:0001583	missense			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520	2199	2199		Fibulins	3601	protein-coding gene	gene with protein product		135821			NA	7806230	Standard	NM_001004019	NM_001165035	NA	Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000404922.3:c.3149G>A	3.37:g.13672892G>A	ENSP00000384169:p.Gly1050Glu	NA	B7Z9C5|Q8IUI0|Q8IUI1	37	CCDS46761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.288281|5.288281	0.95517|0.95517	.|.	.|.	ENSG00000163520|ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059|ENST00000295761	D;D;D;D|D	0.90504|0.99557	-2.56;-2.56;-2.68;-2.56|-6.16	5.39|5.39	5.39|5.39	0.77823|0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99775|0.99775	0.9907|0.9907	H|H	0.95294|0.95294	3.65|3.65	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.97158|0.97158	0.9836|0.9836	10|8	0.87932|0.87932	D|D	0|0	.|.	19.1574|19.1574	0.93517|0.93517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1003;1050;1029|.	P98095;P98095-2;F5H1F3|.	FBLN2_HUMAN;.;.|.	E|R	1029;1050;1003;1050|22	ENSP00000445705:G1029E;ENSP00000384169:G1050E;ENSP00000295760:G1003E;ENSP00000420042:G1050E|ENSP00000295761:G22R	ENSP00000295760:G1003E|ENSP00000295761:G22R	G|G	+|+	2|1	0|0	FBLN2|FBLN2	13647893|13647893	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.977000|0.977000	0.68977|0.68977	9.839000|9.839000	0.99476|0.99476	2.525000|2.525000	0.85131|0.85131	0.655000|0.655000	0.94253|0.94253	GGG|GGA	FBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340082.4		+	ENST00000404922.3	Missense_Mutation	SNP	3 : 13672892 - 13672892 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	75	28
FHOD1	29109	broad.mit.edu	37	16	67273270	67273270	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67273270C>T	ENST00000258201.4	-	2	536	c.289G>A	c.(289-291)Ggc>Agc	p.G97S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	97	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCATAGAAGCCCTCCAGCATC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	78	83			NA	NA	16		NA											NA				67273270		2198	4300	6498	SO:0001583	missense			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723	29109	29109			17905	protein-coding gene	gene with protein product		606881			NA	10352228, 16112087	Standard		NM_013241	NA	Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.289G>A	16.37:g.67273270C>T	ENSP00000258201:p.Gly97Ser	NA	Q59F76|Q6Y1F2|Q76MS8|Q8N521	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610778	0.46527	.	.	ENSG00000135723	ENST00000258201	T	0.20200	2.09	4.85	2.67	0.31697	GTPase-binding/formin homology 3 (1);	0.390655	0.28834	N	0.013983	T	0.15262	0.0368	L	0.41492	1.28	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.24483	T	0.36	.	8.5697	0.33561	0.0:0.8069:0.0:0.1931	.	97	Q9Y613	FHOD1_HUMAN	S	97	ENSP00000258201:G97S	ENSP00000258201:G97S	G	-	1	0	FHOD1	65830771	0.100000	0.21855	1.000000	0.80357	0.997000	0.91878	0.337000	0.19841	0.516000	0.28340	0.655000	0.94253	GGC	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268844.2		-	ENST00000258201.4	Missense_Mutation	SNP	16 : 67273270 - 67273270 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	417	48
FIBIN	387758	broad.mit.edu	37	11	27016362	27016362	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:27016362G>A	ENST00000318627.2	+	1	735	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	97						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCTGGGCGCGTGCTGGAGGG	0.657		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8803	LOWCOV,EXOME	NA	NA	0.0048	SNP								NA				0													46	37	40			NA	NA	11		NA											NA				27016362		2203	4299	6502	SO:0001583	missense			BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971	387758	387758			33747	protein-coding gene	gene with protein product					NA	17196583	Standard	NM_203371	NM_203371	NA	Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.289G>A	11.37:g.27016362G>A	ENSP00000321962:p.Val97Met	NA		37	CCDS7861.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.4	4.826858	0.90955	.	.	ENSG00000176971	ENST00000318627	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70605	-0.4826	9	0.72032	D	0.01	-14.2051	18.3976	0.90504	0.0:0.0:1.0:0.0	.	97	Q8TAL6	FIBIN_HUMAN	M	97	.	ENSP00000321962:V97M	V	+	1	0	FIBIN	26972938	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.245000	0.95431	2.706000	0.92434	0.557000	0.71058	GTG	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387945.1		+	ENST00000318627.2	Missense_Mutation	SNP	11 : 27016362 - 27016362 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	185	33
FOXN4	121643	broad.mit.edu	37	12	109719343	109719343	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:109719343G>A	ENST00000299162.5	-	9	1267	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P208L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	388					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GCTGAGGTCCGGCAGGGCGTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	28	30			NA	NA	12		NA											NA				109719343		2203	4298	6501	SO:0001583	missense			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445	121643	121643		Forkhead boxes	21399	protein-coding gene	gene with protein product		609429			NA		Standard	XM_062735	NM_213596	NA	Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1163C>T	12.37:g.109719343G>A	ENSP00000299162:p.Pro388Leu	NA	Q6ZMR4|Q96NZ0	37	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347910	0.61183	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95482	-3.72;-3.4	4.49	3.58	0.41010	.	0.472963	0.19054	N	0.123947	D	0.96901	0.8988	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.69654	0.965;0.57	D	0.96418	0.9309	10	0.52906	T	0.07	-12.9682	13.1717	0.59602	0.0:0.0:0.8395:0.1605	.	388;388	A6H901;Q96NZ1	.;FOXN4_HUMAN	L	208;388	ENSP00000347354:P208L;ENSP00000299162:P388L	ENSP00000299162:P388L	P	-	2	0	FOXN4	108203726	1.000000	0.71417	0.819000	0.32651	0.417000	0.31264	4.115000	0.57865	1.212000	0.43366	0.561000	0.74099	CCG	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328306.1		-	ENST00000299162.5	Missense_Mutation	SNP	12 : 109719343 - 109719343 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	138	30
GAA	2548	broad.mit.edu	37	17	78085870	78085870	+	Silent	SNP	C	C	T	rs112517802		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:78085870C>T	ENST00000302262.3	+	12	1944	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	GAA_ENST00000390015.3_Silent_p.Y575Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	575			Y -> S (in GSD2; juvenile form).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACAACCTCTACGGCCTGACCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	100	107			NA	NA	17		NA											NA				78085870		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				2548	2548	3.2.1.20		4065	protein-coding gene	gene with protein product	Pompe disease, glycogen storage disease type II	606800			NA		Standard		NM_000152	NA	Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1725C>T	17.37:g.78085870C>T		NA	Q09GN4|Q14351|Q16302|Q8IWE7	37	CCDS32760.1																																																																																			GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437441.1		+	ENST00000302262.3	Silent	SNP	17 : 78085870 - 78085870 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	525	104
GABRD	2563	broad.mit.edu	37	1	1961076	1961076	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:1961076G>A	ENST00000378585.4	+	8	1017	c.934G>A	c.(934-936)Gtc>Atc	p.V312I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	312						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCACTGGACGTCTACTTCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	102	108			NA	NA	1		NA											NA				1961076		2201	4300	6501	SO:0001583	missense			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730	2563	2563		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4084	protein-coding gene	gene with protein product	GABA(A) receptor, delta	137163			NA	2176788, 10965146	Standard	NM_000815	NM_000815	NA	Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.934G>A	1.37:g.1961076G>A	ENSP00000367848:p.Val312Ile	NA	Q8N4N9	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	8.302	0.820039	0.16678	.	.	ENSG00000187730	ENST00000378585	D	0.85773	-2.03	4.0	4.0	0.46444	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.145269	0.46145	D	0.000310	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	T	0.80984	-0.1138	10	0.02654	T	1	-16.1297	15.6431	0.77025	0.0:0.0:1.0:0.0	.	312	O14764	GBRD_HUMAN	I	312	ENSP00000367848:V312I	ENSP00000367848:V312I	V	+	1	0	GABRD	1950936	1.000000	0.71417	0.994000	0.49952	0.343000	0.28985	9.302000	0.96175	2.239000	0.73571	0.561000	0.74099	GTC	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098493.1		+	ENST00000378585.4	Missense_Mutation	SNP	1 : 1961076 - 1961076 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	247	41
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|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.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		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)			CTTCGCTGCCGTGTCCTGACT	0.423		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	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80	78	79			NA	NA	20		NA											NA				57484421		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.2531G>A	20.37:g.57484421G>A	ENSP00000360141:p.Arg844His	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	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 : 57484421 - 57484421 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	426	135
GNPTG	84572	broad.mit.edu	37	16	1412884	1412884	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:1412884G>A	ENST00000204679.4	+	10	843	c.800G>A	c.(799-801)gGc>gAc	p.G267D		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	267						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ACCCAGCACGGCATCCCCTAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	95	93			NA	NA	16		NA											NA				1412884		2199	4300	6499	SO:0001583	missense			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581	84572	84572			23026	protein-coding gene	gene with protein product	GlcNAc-phosphotransferase gamma-subunit	607838	N-acetylglucosamine-1-phosphotransferase, gamma subunit, chromosome 16 open reading frame 27	GNPTAG, C16orf27	NA	10712439	Standard	NM_032520	NM_032520	NA	Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.800G>A	16.37:g.1412884G>A	ENSP00000204679:p.Gly267Asp	NA	B2R556|Q6XYD7|Q96L13	37	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161810	0.57368	.	.	ENSG00000090581	ENST00000204679	D	0.88664	-2.41	5.04	4.06	0.47325	.	0.332660	0.35466	N	0.003194	D	0.87325	0.6149	M	0.71581	2.175	0.38684	D	0.952614	P	0.40578	0.722	B	0.39185	0.293	D	0.89026	0.3438	10	0.51188	T	0.08	-35.0628	12.1825	0.54220	0.0896:0.0:0.9104:0.0	.	267	Q9UJJ9	GNPTG_HUMAN	D	267	ENSP00000204679:G267D	ENSP00000204679:G267D	G	+	2	0	GNPTG	1352885	0.997000	0.39634	0.551000	0.28230	0.143000	0.21401	1.542000	0.36137	2.527000	0.85204	0.650000	0.86243	GGC	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109058.2		+	ENST00000204679.4	Missense_Mutation	SNP	16 : 1412884 - 1412884 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	463	6
HOMER2	9455	broad.mit.edu	37	15	83561566	83561566	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:83561566C>T	ENST00000304231.8	-	2	225	c.33G>A	c.(31-33)gcG>gcA	p.A11A	HOMER2_ENST00000450735.2_Silent_p.A11A|HOMER2_ENST00000426485.1_Silent_p.A11A|HOMER2_ENST00000399166.2_Silent_p.A11A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	11	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.A11A(1)		cervix(1)|endometrium(2)|lung(6)	9						GGAAGACATGCGCTCGGGTGG	0.483		NA											C	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	2e-04	0.0013	NA	NA	5e-04	0.8415	EXOME	NA	NA	3e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)											141	140	141			NA	NA	15		NA											NA				83561566		2008	4172	6180	SO:0001819	synonymous_variant			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942	NA	9455			17513	protein-coding gene	gene with protein product		604799			NA	9808459, 9808458	Standard		NM_199330	NA	Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.33G>A	15.37:g.83561566C>T		NA	O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	37	CCDS45334.1																																																																																			HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418689.1		-	ENST00000304231.8	Silent	SNP	15 : 83561566 - 83561566 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	471	5
IDO1	3620	broad.mit.edu	37	8	39775725	39775725	+	Splice_Site	SNP	A	A	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:39775725A>T	ENST00000518237.1	+	3	941	c.302A>T	c.(301-303)aAg>aTg	p.K101M	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Splice_Site_p.K101M|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	101					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GATGTCCGTAAGGTTTGGAGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	105	107			NA	NA	8		NA											NA				39775725		1913	4134	6047	SO:0001630	splice_region_variant			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	3620	3620	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	indoleamine-pyrrole 2,3 dioxygenase	IDO, INDO	NA	2109605, 8404046	Standard	NM_002164	NM_002164	NA	Approved		uc003xnm.3	P14902		ENST00000518237.1:c.303+1A>T	8.37:g.39775725A>T		NA	Q540B4	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.243130	0.58995	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.50277	0.75;0.75;0.75	5.65	5.65	0.86999	.	0.166139	0.38605	N	0.001628	T	0.67767	0.2928	M	0.83953	2.67	0.41481	D	0.98816	D	0.65815	0.995	D	0.64144	0.922	T	0.72384	-0.4310	9	.	.	.	-19.5956	12.2669	0.54683	1.0:0.0:0.0:0.0	.	101	P14902	I23O1_HUMAN	M	101	ENSP00000428716:K101M;ENSP00000430505:K101M;ENSP00000430950:K101M	.	K	+	2	0	IDO1	39894882	0.998000	0.40836	0.974000	0.42286	0.281000	0.26958	4.977000	0.63792	2.154000	0.67381	0.477000	0.44152	AAG	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376987.1	Missense_Mutation	+	ENST00000518237.1	Splice_Site	SNP	8 : 39775725 - 39775725 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	378	88
IFT46	56912	broad.mit.edu	37	11	118416522	118416522	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118416522A>G	ENST00000264020.2	-	11	1249	c.872T>C	c.(871-873)aTt>aCt	p.I291T	TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Missense_Mutation_p.I291T|IFT46_ENST00000264021.3_Missense_Mutation_p.I240T|TMEM25_ENST00000354284.4_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	240					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GATCATGTCAATGTACTCTGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	148	159			NA	NA	11		NA											NA				118416522		2200	4295	6495	SO:0001583	missense			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096	56912	56912		Intraflagellar transport homologs	26146	protein-coding gene	gene with protein product	cilia and flagella associated protein 32		chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas)	C11orf60	NA	10873569, 19253336	Standard	NM_020153	NM_020153	NA	Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264020.2:c.872T>C	11.37:g.118416522A>G	ENSP00000264020:p.Ile291Thr	NA	A8K0F6|Q9H6V5	37	CCDS8399.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169425	0.38315	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872	T;T;T	0.48522	0.82;0.81;0.81	6.03	4.91	0.64330	.	0.364645	0.29335	N	0.012458	T	0.36936	0.0985	L	0.37561	1.115	0.41527	D	0.988432	B;B;B	0.21071	0.01;0.051;0.008	B;B;B	0.17433	0.012;0.018;0.011	T	0.16394	-1.0404	10	0.45353	T	0.12	-8.0521	9.5551	0.39334	0.8583:0.0:0.1417:0.0	.	291;240;291	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	T	240;291;291	ENSP00000264021:I240T;ENSP00000264020:I291T;ENSP00000432384:I291T	ENSP00000264020:I291T	I	-	2	0	IFT46	117921732	0.998000	0.40836	0.992000	0.48379	0.823000	0.46562	3.755000	0.55197	1.104000	0.41587	0.533000	0.62120	ATT	IFT46-013	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389628.1		-	ENST00000264020.2	Missense_Mutation	SNP	11 : 118416522 - 118416522 G PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	578	86
INSM1	3642	broad.mit.edu	37	20	20350394	20350394	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:20350394G>A	ENST00000310227.1	+	1	1630	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	495					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCACCCATCCGAAAACAGACA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	21	20			NA	NA	20		NA											NA				20350394		2178	4252	6430	SO:0001583	missense				CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404	3642	3642			6090	protein-coding gene	gene with protein product		600010			NA	8188699, 16569215	Standard	NM_002196	NM_002196	NA	Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1483G>A	20.37:g.20350394G>A	ENSP00000312631:p.Glu495Lys	NA		37	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524404	0.85600	.	.	ENSG00000173404	ENST00000310227	T	0.00856	5.61	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.64402	U	0.000001	T	0.01661	0.0053	M	0.61703	1.905	0.51482	D	0.999923	D	0.58620	0.983	B	0.39660	0.306	T	0.61589	-0.7032	10	0.87932	D	0	-11.8587	14.4248	0.67207	0.0729:0.0:0.9271:0.0	.	495	Q01101	INSM1_HUMAN	K	495	ENSP00000312631:E495K	ENSP00000312631:E495K	E	+	1	0	INSM1	20298394	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.963000	0.87922	2.522000	0.85027	0.650000	0.86243	GAA	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078223.1		+	ENST00000310227.1	Missense_Mutation	SNP	20 : 20350394 - 20350394 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	257	38
KIAA1549	57670	broad.mit.edu	37	7	138566147	138566147	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:138566147G>C	ENST00000440172.1	-	11	4264	c.4216C>G	c.(4216-4218)Cgt>Ggt	p.R1406G	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1356G|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1406G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1406						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCTGTGACGAACATTCTTG	0.502		NA	O	BRAF	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													132	135	134			NA	NA	7		NA											NA				138566147		1995	4168	6163	SO:0001583	missense				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778	57670	57670			22219	protein-coding gene	gene with protein product		613344			NA		Standard		NM_020910	NA	Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000440172.1:c.4216C>G	7.37:g.138566147G>C	ENSP00000406661:p.Arg1406Gly	NA	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	37	CCDS47723.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221722	0.79464	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27557	1.66;1.66;1.68	5.23	5.23	0.72850	.	0.101100	0.64402	D	0.000003	T	0.55242	0.1908	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.81914	0.995;0.965;0.991;0.965	T	0.56547	-0.7961	10	0.72032	D	0.01	.	17.5362	0.87832	0.0:0.0:1.0:0.0	.	1406;190;1406;190	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	G	1406;1356;1406	ENSP00000406661:R1406G;ENSP00000242365:R1356G;ENSP00000416040:R1406G	ENSP00000242365:R1356G	R	-	1	0	KIAA1549	138216687	1.000000	0.71417	0.942000	0.38095	0.793000	0.44817	5.140000	0.64807	2.716000	0.92895	0.655000	0.94253	CGT	KIAA1549-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347938.2		-	ENST00000440172.1	Missense_Mutation	SNP	7 : 138566147 - 138566147 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	513	78
KIF27	55582	broad.mit.edu	37	9	86504131	86504131	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:86504131A>C	ENST00000297814.2	-	7	1990	c.1847T>G	c.(1846-1848)aTa>aGa	p.I616R	KIF27_ENST00000376347.1_Missense_Mutation_p.I7R|KIF27_ENST00000334204.2_Missense_Mutation_p.I616R|KIF27_ENST00000413982.1_Missense_Mutation_p.I616R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	616					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCAGCAAATATTCGATCCAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	144	144			NA	NA	9		NA											NA				86504131		2203	4300	6503	SO:0001583	missense			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115	55582	55582		Kinesins	18632	protein-coding gene	gene with protein product		611253			NA		Standard	NM_017576	NM_017576	NA	Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1847T>G	9.37:g.86504131A>C	ENSP00000297814:p.Ile616Arg	NA	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465512	0.63513	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.85	3.62	0.41486	.	0.461427	0.16718	U	0.202373	T	0.30448	0.0765	N	0.08118	0	0.38420	D	0.946164	P;P;B	0.42993	0.467;0.797;0.337	B;P;B	0.44359	0.133;0.447;0.054	T	0.11446	-1.0587	10	0.29301	T	0.29	.	10.6689	0.45747	0.8568:0.0:0.0:0.1432	.	616;616;616	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	R	616;616;616;7	ENSP00000297814:I616R;ENSP00000401688:I616R;ENSP00000333928:I616R;ENSP00000365525:I7R	ENSP00000297814:I616R	I	-	2	0	KIF27	85693951	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	5.222000	0.65277	1.949000	0.56562	0.455000	0.32223	ATA	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052861.1		-	ENST00000297814.2	Missense_Mutation	SNP	9 : 86504131 - 86504131 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	713	32
KIFC3	3801	broad.mit.edu	37	16	57803635	57803635	+	Missense_Mutation	SNP	C	C	T	rs146824728	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:57803635C>T	ENST00000543930.1	-	7	1233	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	KIFC3_ENST00000379655.4_Missense_Mutation_p.V364I|KIFC3_ENST00000465878.2_Missense_Mutation_p.V225I|KIFC3_ENST00000421376.2_Missense_Mutation_p.V225I|KIFC3_ENST00000445690.2_Missense_Mutation_p.V364I|KIFC3_ENST00000562903.1_Missense_Mutation_p.V225I|KIFC3_ENST00000539578.1_Missense_Mutation_p.V306I|KIFC3_ENST00000540079.2_Missense_Mutation_p.V262I|KIFC3_ENST00000541240.1_Missense_Mutation_p.V386I			Q9BVG8	KIFC3_HUMAN	kinesin family member C3	364					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TTGGTCCGGACGCCTATGGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,ILE/VAL,ILE/VAL	2,4394	6.2+/-15.9	0,2,2196	34	33	33		673,1090,1090	5.6	1	16	dbSNP_134	33	0,8600		0,0,4300	yes	missense,missense,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	29,29,29	0,2,6496	TT,TC,CC	NA	0.0,0.0455,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	225/688,364/827,364/834	57803635	2,12994	2198	4300	6498	SO:0001583	missense			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859	3801	3801		Kinesins	6326	protein-coding gene	gene with protein product		604535			NA	9782090	Standard	NM_005550	NM_001130099	NA	Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000543930.1:c.673G>A	16.37:g.57803635C>T	ENSP00000444012:p.Val225Ile	NA	O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	37		.	.	.	.	.	.	.	.	.	.	C	17.90	3.503117	0.64298	4.55E-4	0.0	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74632	-0.82;-0.8;-0.79;-0.81;-0.78;-0.86;-0.79	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	L	0.54323	1.7	0.58432	D	0.999999	B;P;B;B;B;B;P	0.44627	0.4;0.839;0.4;0.133;0.088;0.4;0.495	B;B;B;B;B;B;B	0.36845	0.051;0.234;0.051;0.08;0.04;0.051;0.058	T	0.71024	-0.4712	10	0.35671	T	0.21	.	18.1742	0.89756	0.0:1.0:0.0:0.0	.	386;306;225;262;69;364;225	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	I	364;364;225;386;262;225;306	ENSP00000368976:V364I;ENSP00000401696:V364I;ENSP00000396399:V225I;ENSP00000442008:V386I;ENSP00000438805:V262I;ENSP00000444012:V225I;ENSP00000444884:V306I	ENSP00000368976:V364I	V	-	1	0	KIFC3	56361136	1.000000	0.71417	0.987000	0.45799	0.186000	0.23388	5.980000	0.70516	2.624000	0.88883	0.655000	0.94253	GTC	KIFC3-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432168.1		-	ENST00000543930.1	Missense_Mutation	SNP	16 : 57803635 - 57803635 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	220	40
KLF4	9314	broad.mit.edu	37	9	110249341	110249341	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:110249341G>T	ENST00000374672.4	-	4	1705	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	445	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTTGAGATGGGAACTCTTTGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													301	267	279			NA	NA	9		NA											NA				110249341		2203	4300	6503	SO:0001583	missense			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826	9314	9314		Kruppel-like transcription factors, Zinc fingers, C2H2-type	6348	protein-coding gene	gene with protein product		602253			NA	9422764, 16372018	Standard	NM_004235	NM_004235	NA	Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1232C>A	9.37:g.110249341G>T	ENSP00000363804:p.Ser411Tyr	NA	B2R8S4|B3KT79|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	37	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579183	0.86645	.	.	ENSG00000136826	ENST00000374672	T	0.35605	1.3	5.57	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.347798	0.21123	N	0.079795	T	0.66208	0.2766	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.72625	0.641;0.978	T	0.74041	-0.3792	10	0.87932	D	0	.	14.0741	0.64880	0.0732:0.0:0.9268:0.0	.	445;411	O43474;O43474-1	KLF4_HUMAN;.	Y	411	ENSP00000363804:S411Y	ENSP00000363804:S411Y	S	-	2	0	KLF4	109289162	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.824000	0.99380	1.358000	0.45922	-0.136000	0.14681	TCC	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053556.2		-	ENST00000374672.4	Missense_Mutation	SNP	9 : 110249341 - 110249341 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	914	151
KMT2A	4297	broad.mit.edu	37	11	118343199	118343199	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118343199G>A	ENST00000534358.1	+	3	1348	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	KMT2A_ENST00000389506.5_Missense_Mutation_p.R442Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.R442Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						AAAATTGCCCGATTAGAGTCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	130	126			NA	NA	11		NA											NA				118343199		2200	4296	6496	SO:0001583	missense			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058	4297	4297		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7132	protein-coding gene	gene with protein product		159555	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	MLL	NA	1720549	Standard	NM_005933	NM_001197104	NA	Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000534358.1:c.1325G>A	11.37:g.118343199G>A	ENSP00000436786:p.Arg442Gln	NA		37	CCDS55791.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272202	0.59649	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000328469	D;T;D;D	0.85861	-2.03;3.44;-2.04;-2.01	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.88426	0.6433	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.988	D	0.89124	0.3505	10	0.56958	D	0.05	.	18.6691	0.91504	0.0:0.0:1.0:0.0	.	442;442;475	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	Q	442;475;442;442;475	ENSP00000436786:R442Q;ENSP00000432391:R475Q;ENSP00000374157:R442Q;ENSP00000346516:R442Q	ENSP00000333556:R475Q	R	+	2	0	MLL	117848409	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.086000	0.94088	2.719000	0.93026	0.585000	0.79938	CGA	KMT2A-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389228.2		+	ENST00000534358.1	Missense_Mutation	SNP	11 : 118343199 - 118343199 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	856	172
KRT36	8689	broad.mit.edu	37	17	39643660	39643660	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39643660G>A	ENST00000393986.2	-	6	992	c.780C>T	c.(778-780)atC>atT	p.I260I	KRT36_ENST00000328119.6_Silent_p.I310I			O76013	KRT36_HUMAN	keratin 36	310	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GTCTCAGCTCGATGATCTCCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	56	63			NA	NA	17		NA											NA				39643660		2203	4300	6503	SO:0001819	synonymous_variant			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337	8689	8689		-, Intermediate filaments type I, keratins (acidic)	6454	protein-coding gene	gene with protein product		604540	keratin, hair, acidic, 6	KRTHA6	NA	9756910, 16831889	Standard	NM_003771	XM_005257762	NA	Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000393986.2:c.780C>T	17.37:g.39643660G>A		NA	Q86XG4	37																																																																																				KRT36-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000257294.1		-	ENST00000393986.2	Silent	SNP	17 : 39643660 - 39643660 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	147	22
KRT72	140807	broad.mit.edu	37	12	52994910	52994910	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:52994910C>T	ENST00000537672.2	-	1	337	c.327G>A	c.(325-327)ccG>ccA	p.P109P	KRT72_ENST00000354310.4_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Silent_p.P109P	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	109	Head.					keratin filament	structural molecule activity	p.P109P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCACGTTGAGCGGGGCCAGGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											82	76	78			NA	NA	12		NA											NA				52994910		2203	4300	6503	SO:0001819	synonymous_variant			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486	140807	140807		-, Intermediate filaments type II, keratins (basic)	28932	protein-coding gene	gene with protein product		608246			NA	12648212, 11703281, 16831889	Standard	NM_080747	NM_080747	NA	Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.327G>A	12.37:g.52994910C>T		NA	Q8NA87|Q8WWY9|Q8WWZ0	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239736	0.39598	.	.	ENSG00000170486	ENST00000549979	.	.	.	4.49	-1.94	0.07571	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	.	1.5914	0.02655	0.2117:0.371:0.1662:0.2511	.	.	.	.	H	95	.	.	R	-	2	0	KRT72	51281177	0.000000	0.05858	0.947000	0.38551	0.805000	0.45488	-2.331000	0.01110	-0.362000	0.08113	-1.083000	0.02208	CGC	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405693.1		-	ENST00000537672.2	Silent	SNP	12 : 52994910 - 52994910 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	290	6
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	97	107			NA	NA	X		NA											NA				153134383		2203	4300	6503	SO:0001583	missense			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910	3897	3897		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	6470	protein-coding gene	gene with protein product		308840	antigen identified by monoclonal antibody R1	HSAS1, SPG1, HSAS, MASA, MIC5, S10	NA		Standard	NM_024003	NM_001278116	NA	Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val	NA	A0AV65|B2RMU7|Q8TA87	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061094.2		-	ENST00000370060.1	Missense_Mutation	SNP	X : 153134383 - 153134383 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	231	6
L3MBTL1	26013	broad.mit.edu	37	20	42143799	42143799	+	Splice_Site	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:42143799G>A	ENST00000373135.3	+	2	515	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	L3MBTL1_ENST00000418998.1_Splice_Site_p.R196Q|L3MBTL1_ENST00000373134.1_Splice_Site_p.R128Q|L3MBTL1_ENST00000427442.2_Splice_Site_p.R196Q|L3MBTL1_ENST00000444063.1_Splice_Site_p.R128Q|L3MBTL1_ENST00000457824.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	128					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGAGCGGTAAGGGGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	63	63			NA	NA	20		NA											NA				42143799		2203	4300	6503	SO:0001630	splice_region_variant			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513	26013	26013		Zinc fingers, C2HC-type containing, Sterile alpha motif (SAM) domain containing	15905	protein-coding gene	gene with protein product	lethal (3) malignant brain tumor l(3)	608802	l(3)mbt (Drosophila)-like, l(3)mbt-like (Drosophila)	L3MBTL	NA	10445843, 17540172	Standard	NM_032107	NM_032107	NA	Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000373135.3:c.383+1G>A	20.37:g.42143799G>A		NA	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	37	CCDS13319.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172381	0.94807	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	4.81	3.85	0.44370	.	0.000000	0.56097	D	0.000024	D	0.96109	0.8732	M	0.65498	2.005	0.80722	D	1	D;D;P;P	0.76494	0.994;0.999;0.948;0.621	P;P;P;B	0.55545	0.615;0.778;0.479;0.057	D	0.94672	0.7857	9	.	.	.	.	8.315	0.32095	0.1069:0.0:0.8931:0.0	.	196;128;128;128	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	Q	196;196;128;128;128	ENSP00000402107:R196Q;ENSP00000398516:R196Q;ENSP00000362227:R128Q;ENSP00000403316:R128Q;ENSP00000362226:R128Q	.	R	+	2	0	L3MBTL1	41577213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.545000	0.45769	2.391000	0.81399	0.655000	0.94253	CGG	L3MBTL1-005	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079298.2	Missense_Mutation	+	ENST00000373135.3	Splice_Site	SNP	20 : 42143799 - 42143799 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	583	24
LAPTM4B	55353	broad.mit.edu	37	8	98817579	98817579	+	Splice_Site	SNP	A	A	T	rs149932386		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:98817579A>T	ENST00000445593.2	+	2	1052		c.e2-1		LAPTM4B_ENST00000521545.2_Splice_Site	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	NA					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TTCTTGTTGCAGATCATCAAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	8		NA											NA				98817579		2203	4300	6503	SO:0001630	splice_region_variant			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341	55353	55353			13646	protein-coding gene	gene with protein product		613296			NA		Standard		NM_018407	NA	Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000445593.2:c.373-1A>T	8.37:g.98817579A>T		NA	Q3ZCV5|Q7L909|Q86VH8|Q9H060	37	CCDS6275.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884628	0.72410	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000517924;ENST00000521545	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.653	0.56772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAPTM4B	98886755	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.723000	0.84788	2.036000	0.60181	0.533000	0.62120	.	LAPTM4B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380014.1	Intron	+	ENST00000445593.2	Splice_Site	SNP	8 : 98817579 - 98817579 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	601	26
MAP3K7CL	56911	broad.mit.edu	37	21	30532269	30532269	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:30532269C>T	ENST00000399935.2	+	9	807	c.140C>T	c.(139-141)cCg>cTg	p.P47L	MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P41L|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P47L					MAP3K7 C-terminal like	NA											NA						AAGCCCCTGCCGCCTTGTCAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	126	128			NA	NA	21		NA											NA				30532269		2203	4300	6503	SO:0001583	missense			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265	56911	56911			16457	protein-coding gene	gene with protein product		611110	chromosome 21 open reading frame 7	C21orf7	NA		Standard	NM_020152	NM_020152	NA	Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399935.2:c.140C>T	21.37:g.30532269C>T	ENSP00000382817:p.Pro47Leu	NA		37		.	.	.	.	.	.	.	.	.	.	C	18.32	3.598573	0.66332	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.48522	0.81;0.81	4.65	4.65	0.58169	.	0.132552	0.50627	D	0.000108	T	0.60702	0.2289	L	0.35854	1.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62291	-0.6885	10	0.51188	T	0.08	-14.5871	18.4217	0.90592	0.0:1.0:0.0:0.0	.	47;147	B0EVZ8;P57077	.;TAK1L_HUMAN	L	41;147;47;47;147;47;47;47;47;47	ENSP00000343212:P147L;ENSP00000382828:P147L	ENSP00000345777:P47L	P	+	2	0	C21orf7	29454140	1.000000	0.71417	0.972000	0.41901	0.876000	0.50452	6.441000	0.73439	2.493000	0.84123	0.655000	0.94253	CCG	MAP3K7CL-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000171867.2		+	ENST00000399935.2	Missense_Mutation	SNP	21 : 30532269 - 30532269 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	433	71
MCM3AP	8888	broad.mit.edu	37	21	47664991	47664991	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47664991G>A	ENST00000397708.1	-	24	5022	c.4768C>T	c.(4768-4770)Cat>Tat	p.H1590Y	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1590Y|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1590					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTCTGTCATGGAAAAAGCGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	72	72			NA	NA	21		NA											NA				47664991		2203	4300	6503	SO:0001583	missense			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4768C>T	21.37:g.47664991G>A	ENSP00000380820:p.His1590Tyr	NA	Q2M3C1|Q9UMT4	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.432	0.848790	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03272	3.99;3.99	5.45	4.37	0.52481	.	0.551176	0.21218	N	0.078193	T	0.04182	0.0116	L	0.31294	0.92	0.31865	N	0.620481	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.06789	-1.0807	10	0.39692	T	0.17	-10.1882	15.096	0.72235	0.0801:0.0:0.9199:0.0	.	1590;85	O60318;B3KT88	MCM3A_HUMAN;.	Y	1590;1590;85	ENSP00000380820:H1590Y;ENSP00000291688:H1590Y	ENSP00000291688:H1590Y	H	-	1	0	MCM3AP	46489419	0.996000	0.38824	0.984000	0.44739	0.846000	0.48090	2.460000	0.45031	2.545000	0.85829	0.655000	0.94253	CAT	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Missense_Mutation	SNP	21 : 47664991 - 47664991 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	361	62
MED16	10025	broad.mit.edu	37	19	868430	868430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:868430C>T	ENST00000312090.6	-	16	2676	c.2526G>A	c.(2524-2526)tgG>tgA	p.W842*	MED16_ENST00000589119.1_Nonsense_Mutation_p.W823*|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000395808.3_Nonsense_Mutation_p.W823*|MED16_ENST00000325464.1_Nonsense_Mutation_p.W823*			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	823					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTTGATCCAGCGCTGCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	37	38			NA	NA	19		NA											NA				868430		2201	4297	6498	SO:0001587	stop_gained			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221	10025	10025		WD repeat domain containing	17556	protein-coding gene	gene with protein product		604062	thyroid hormone receptor associated protein 5	THRAP5	NA	10235266, 10198638	Standard	NM_005481	NM_005481	NA	Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000312090.6:c.2526G>A	19.37:g.868430C>T	ENSP00000308528:p.Trp842*	NA	Q6PJT2|Q96AD4|Q96I35|Q9Y652	37		.	.	.	.	.	.	.	.	.	.	C	40	8.283552	0.98742	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808	.	.	.	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7101	15.6761	0.77326	0.0:1.0:0.0:0.0	.	.	.	.	X	823;842;823	.	ENSP00000308528:W842X	W	-	3	0	MED16	819430	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.266000	0.78452	1.941000	0.56285	0.511000	0.50034	TGG	MED16-003	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000457893.2		-	ENST00000312090.6	Nonsense_Mutation	SNP	19 : 868430 - 868430 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	181	14
MYO3A	53904	broad.mit.edu	37	10	26457784	26457784	+	Silent	SNP	C	C	T	rs35541310	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:26457784C>T	ENST00000265944.5	+	28	3421	c.3255C>T	c.(3253-3255)agC>agT	p.S1085S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1085	IQ 2.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAAAGAAAGCGCTATAATAA	0.328		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								C		6,4400	11.4+/-27.6	0,6,2197	119	123	122		3255	-4.8	0.5	10	dbSNP_126	122	0,8600		0,0,4300	no	coding-synonymous	MYO3A	NM_017433.4		0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461		1085/1617	26457784	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777	53904	53904		Myosins / Myosin superfamily : Class III	7601	protein-coding gene	gene with protein product		606808	deafness, autosomal recessive 30	DFNB30	NA	10936054	Standard	NM_017433	NM_017433	NA	Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3255C>T	10.37:g.26457784C>T		NA	Q5VZ28|Q8WX17|Q9NYS8	37	CCDS7148.1																																																																																			MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047259.1		+	ENST00000265944.5	Silent	SNP	10 : 26457784 - 26457784 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	266	44
NEBL	10529	broad.mit.edu	37	10	21074742	21074742	+	Silent	SNP	G	G	A	rs139156783	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:21074742G>A	ENST00000377122.4	-	28	3375	c.2979C>T	c.(2977-2979)taC>taT	p.Y993Y	NEBL_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	993	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTGCCGTACATCCAGC	0.468		NA											G	1	5e-04	0.002	NA	2184	NA	0.9997	,	,	NA	4e-04	NA	NA	NA	5e-04	0.7497	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													120	99	106			NA	NA	10		NA											NA				21074742		2203	4300	6503	SO:0001819	synonymous_variant			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114	10529	10529			16932	protein-coding gene	gene with protein product		605491			NA	9733644, 10470015	Standard	NM_006393	NM_213569	NA	Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2979C>T	10.37:g.21074742G>A		NA	B0YJ45|Q2TBD0|Q9UIC4	37	CCDS7134.1																																																																																			NEBL-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047113.1		-	ENST00000377122.4	Silent	SNP	10 : 21074742 - 21074742 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	247	4
NES	10763	broad.mit.edu	37	1	156639754	156639754	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:156639754G>T	ENST00000368223.3	-	4	4358	c.4226C>A	c.(4225-4227)tCc>tAc	p.S1409Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1409	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAACCCATCGGACTCCCCATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	24	24			NA	NA	1		NA											NA				156639754		2201	4297	6498	SO:0001583	missense			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688	10763	10763		Intermediate filaments type IV	7756	protein-coding gene	gene with protein product		600915			NA	1478958, 9104587	Standard	NM_006617	NM_006617	NA	Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4226C>A	1.37:g.156639754G>T	ENSP00000357206:p.Ser1409Tyr	NA	O00552|Q3LIF5|Q5SYZ6	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219120	0.58560	.	.	ENSG00000132688	ENST00000368223	D	0.93811	-3.29	4.46	4.46	0.54185	.	0.000000	0.32640	N	0.005837	D	0.94215	0.8143	M	0.66939	2.045	0.26797	N	0.969277	D	0.76494	0.999	D	0.71184	0.972	D	0.89006	0.3425	10	0.87932	D	0	.	11.8552	0.52433	0.0:0.0:0.8245:0.1755	.	1409	P48681	NEST_HUMAN	Y	1409	ENSP00000357206:S1409Y	ENSP00000357206:S1409Y	S	-	2	0	NES	154906378	0.996000	0.38824	1.000000	0.80357	0.933000	0.57130	3.567000	0.53813	2.316000	0.78162	0.557000	0.71058	TCC	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082844.2		-	ENST00000368223.3	Missense_Mutation	SNP	1 : 156639754 - 156639754 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	201	12
NLRP4	147945	broad.mit.edu	37	19	56369561	56369561	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56369561A>G	ENST00000301295.6	+	3	1224	c.802A>G	c.(802-804)Aag>Gag	p.K268E	NLRP4_ENST00000587891.1_Missense_Mutation_p.K193E|NLRP4_ENST00000346986.5_Missense_Mutation_p.K268E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	268	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGAGGAAGAAGATGCTCCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	82	79			NA	NA	19		NA											NA				56369561		2203	4300	6503	SO:0001583	missense			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08			147945	147945		Nucleotide-binding domain and leucine rich repeat containing	22943	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4, cancer/testis antigen 58	609645	NACHT, leucine rich repeat and PYD containing 4	NALP4	NA	12563287, 12019269	Standard	NM_134444	NM_134444	NA	Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.802A>G	19.37:g.56369561A>G	ENSP00000301295:p.Lys268Glu	NA	Q86W87|Q96AY6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876238	0.51801	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.79653	-1.29;-1.29	4.1	3.05	0.35203	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.81640	0.4865	L	0.41079	1.255	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.947;0.984;0.991	T	0.67692	-0.5605	9	0.18276	T	0.48	.	6.9127	0.24344	0.629:0.0:0.0:0.371	.	268;193;268	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	E	268	ENSP00000301295:K268E;ENSP00000344787:K268E	ENSP00000301295:K268E	K	+	1	0	NLRP4	61061373	0.000000	0.05858	0.008000	0.14137	0.087000	0.18053	1.126000	0.31344	0.689000	0.31550	0.533000	0.62120	AAG	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457367.2		+	ENST00000301295.6	Missense_Mutation	SNP	19 : 56369561 - 56369561 G PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	477	93
NLRP8	126205	broad.mit.edu	37	19	56467178	56467178	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56467178G>A	ENST00000291971.3	+	3	1825	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R585K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	585						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTAATAAGAGGAAACTGCTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	47	49			NA	NA	19		NA											NA				56467178		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1754G>A	19.37:g.56467178G>A	ENSP00000291971:p.Arg585Lys	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.716604	0.00706	.	.	ENSG00000179709	ENST00000291971	D	0.88431	-2.38	2.03	-3.26	0.05064	.	.	.	.	.	T	0.70649	0.3248	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.036;0.048	B;B	0.13407	0.007;0.009	T	0.56703	-0.7935	9	0.18710	T	0.47	.	4.4176	0.11465	0.2921:0.221:0.4869:0.0	.	585;585	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	585	ENSP00000291971:R585K	ENSP00000291971:R585K	R	+	2	0	NLRP8	61158990	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.103000	0.10940	-1.059000	0.03193	-0.507000	0.04495	AGG	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56467178 - 56467178 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	217	34
NNAT	4826	broad.mit.edu	37	20	36149750	36149750	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:36149750C>G	ENST00000062104.2	+	1	134	c.17C>G	c.(16-18)gCg>gGg	p.A6G	NNAT_ENST00000346199.2_Missense_Mutation_p.A6G|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000397137.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	6					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GCAGTGGCGGCGGCCTCGGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	145	144			NA	NA	20		NA											NA				36149750		2203	4300	6503	SO:0001583	missense				CCDS13296.1, CCDS13297.1	20q11.2-q12	2007-12-07			ENSG00000053438	ENSG00000053438	4826	4826			7860	protein-coding gene	gene with protein product		603106			NA	8660979	Standard	NM_005386	NM_005386	NA	Approved	Peg5	uc002xhd.3	Q16517	OTTHUMG00000032420	ENST00000062104.2:c.17C>G	20.37:g.36149750C>G	ENSP00000062104:p.Ala6Gly	NA	B2R558|E1P5V6|Q16596|Q5U0N3	37	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052781	0.55218	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	4.59	4.59	0.56863	.	0.000000	0.48767	D	0.000176	T	0.71600	0.3359	.	.	.	0.33830	D	0.630072	D;D	0.61080	0.989;0.989	D;D	0.64237	0.923;0.923	T	0.80132	-0.1510	8	0.87932	D	0	-8.0572	13.2076	0.59807	0.0:1.0:0.0:0.0	.	6;6	Q16517-2;Q16517	.;NNAT_HUMAN	G	6	.	ENSP00000062104:A6G	A	+	2	0	NNAT	35583164	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.991000	0.49409	2.836000	0.97738	0.655000	0.94253	GCG	NNAT-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079116.2		+	ENST00000062104.2	Missense_Mutation	SNP	20 : 36149750 - 36149750 G PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1217	29
NRXN1	9378	broad.mit.edu	37	2	50765563	50765563	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:50765563C>T	ENST00000404971.1	-	11	3430	c.2091G>A	c.(2089-2091)cgG>cgA	p.R697R	NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000402717.3_Silent_p.R649R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGCCATTTGCCGGATATCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	276	273			NA	NA	2		NA											NA				50765563		2189	4294	6483	SO:0001819	synonymous_variant			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915	9378	9378			8008	protein-coding gene	gene with protein product		600565			NA		Standard		NM_001135659	NA	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.2091G>A	2.37:g.50765563C>T		NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	37	CCDS46282.1																																																																																			NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323894.3		-	ENST00000404971.1	Silent	SNP	2 : 50765563 - 50765563 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1303	7
NUP153	9972	broad.mit.edu	37	6	17706578	17706578	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:17706578C>T	ENST00000262077.2	-	1	40	c.41G>A	c.(40-42)gGc>gAc	p.G14D	RP11-500C11.3_ENST00000606771.1_RNA|NUP153_ENST00000537253.1_Missense_Mutation_p.G14D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	14	Gly-rich.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCGGATCTTGCCGCCACCGCC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	45	48			NA	NA	6		NA											NA				17706578		2201	4299	6500	SO:0001583	missense			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789	9972	9972			8062	protein-coding gene	gene with protein product		603948	nucleoporin 153kD		NA	8110839	Standard		NM_001278209	NA	Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.41G>A	6.37:g.17706578C>T	ENSP00000262077:p.Gly14Asp	NA	Q5T9I7	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008788	0.75046	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.35048	1.33;1.43	3.12	3.12	0.35913	.	0.000000	0.35525	N	0.003147	T	0.40015	0.1100	L	0.46157	1.445	0.42084	D	0.991265	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.33548	-0.9864	10	0.87932	D	0	-8.5848	10.0092	0.41975	0.0:1.0:0.0:0.0	.	14;36;14	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	14;36;14	ENSP00000262077:G14D;ENSP00000444029:G14D	ENSP00000262077:G14D	G	-	2	0	NUP153	17814557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	2.085000	0.62840	0.591000	0.81541	GGC	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039953.1		-	ENST00000262077.2	Missense_Mutation	SNP	6 : 17706578 - 17706578 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	257	6
OR4A47	403253	broad.mit.edu	37	11	48510885	48510885	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:48510885C>A	ENST00000446524.1	+	1	617	c.541C>A	c.(541-543)Ccc>Acc	p.P181T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGACATGTATCCCTTATTGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)											167	159	162			NA	NA	11		NA											NA				48510885		2201	4298	6499	SO:0001583	missense			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388	403253	403253		GPCR / Class A : Olfactory receptors	31266	protein-coding gene	gene with protein product					NA		Standard	NM_001005512	NM_001005512	NA	Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.541C>A	11.37:g.48510885C>A	ENSP00000412752:p.Pro181Thr	NA		37	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	7.778	0.708860	0.15239	.	.	ENSG00000237388	ENST00000446524	T	0.00216	8.53	4.84	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.117629	0.38778	N	0.001571	T	0.00666	0.0022	H	0.94658	3.565	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38045	-0.9679	10	0.72032	D	0.01	.	6.6304	0.22853	0.0:0.6819:0.147:0.171	.	181	Q6IF82	O4A47_HUMAN	T	181	ENSP00000412752:P181T	ENSP00000412752:P181T	P	+	1	0	OR4A47	48467461	0.000000	0.05858	0.219000	0.23793	0.012000	0.07955	0.174000	0.16743	0.105000	0.17753	-0.409000	0.06214	CCC	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390559.1		+	ENST00000446524.1	Missense_Mutation	SNP	11 : 48510885 - 48510885 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	619	25
OR4S2	219431	broad.mit.edu	37	11	55418776	55418776	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:55418776A>C	ENST00000312422.2	+	1	397	c.397A>C	c.(397-399)Atc>Ctc	p.I133L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTATATGACCATCATGAACCG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	167	178			NA	NA	11		NA											NA				55418776		2182	4042	6224	SO:0001583	missense			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982	219431	219431		GPCR / Class A : Olfactory receptors	15183	protein-coding gene	gene with protein product			olfactory receptor, family 4, subfamily S, member 2 pseudogene	OR4S2P	NA		Standard	NM_001004059	NM_001004059	NA	Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.397A>C	11.37:g.55418776A>C	ENSP00000310337:p.Ile133Leu	NA	Q6IF72	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386439	0.25031	.	.	ENSG00000174982	ENST00000312422	T	0.00940	5.52	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.243922	0.28453	N	0.015284	T	0.01387	0.0045	L	0.45698	1.435	0.26071	N	0.981224	B	0.14438	0.01	B	0.10450	0.005	T	0.38564	-0.9655	10	0.72032	D	0.01	.	10.9264	0.47193	0.8431:0.1569:0.0:0.0	.	133	Q8NH73	OR4S2_HUMAN	L	133	ENSP00000310337:I133L	ENSP00000310337:I133L	I	+	1	0	OR4S2	55175352	0.008000	0.16893	0.997000	0.53966	0.193000	0.23685	0.647000	0.24812	2.028000	0.59812	0.443000	0.29094	ATC	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391503.1		+	ENST00000312422.2	Missense_Mutation	SNP	11 : 55418776 - 55418776 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1008	50
OR5H1	26341	broad.mit.edu	37	3	97852400	97852400	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:97852400C>T	ENST00000354565.2	+	1	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTTGTTAAATCCTATCATCTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	97	95			NA	NA	3		NA											NA				97852400		2203	4299	6502	SO:0001583	missense			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192	26341	26341		GPCR / Class A : Olfactory receptors	8346	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_001005338	NM_001005338	NA	Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.859C>T	3.37:g.97852400C>T	ENSP00000346575:p.Pro287Ser	NA		37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212625	0.22289	.	.	ENSG00000231192	ENST00000354565	T	0.63417	-0.04	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000271	T	0.68833	0.3044	M	0.88842	2.985	0.35061	D	0.761587	B	0.33238	0.403	B	0.37239	0.244	T	0.81182	-0.1049	10	0.87932	D	0	.	12.2602	0.54647	0.0:1.0:0.0:0.0	.	287	A6NKK0	OR5H1_HUMAN	S	287	ENSP00000346575:P287S	ENSP00000346575:P287S	P	+	1	0	OR5H1	99335090	1.000000	0.71417	0.685000	0.30070	0.005000	0.04900	6.901000	0.75693	1.712000	0.51347	0.195000	0.17529	CCT	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359100.2		+	ENST00000354565.2	Missense_Mutation	SNP	3 : 97852400 - 97852400 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	411	72
PCDHA5	56143	broad.mit.edu	37	5	140201497	140201497	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:140201497G>A	ENST00000529859.1	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1			protocadherin alpha 5	NA								p.R46H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCATCGCGCAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											56	64	61			NA	NA	5		NA											NA				140201497		2203	4300	6503	SO:0001583	missense			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965	56143	56143		Cadherins / Protocadherins : Clustered	8671	other	complex locus constituent	ortholog of mouse CNR6, KIAA0345-like 9	606311		CNRS6	NA	10380929, 10662547	Standard	NM_018908	NM_018908	NA	Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.137G>A	5.37:g.140201497G>A	ENSP00000436557:p.Arg46His	NA		37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294143	0.60086	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.27256	1.68;1.68;1.68	3.87	2.98	0.34508	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.25827	0.0629	M	0.63428	1.95	0.25612	N	0.986495	P;P;P	0.46987	0.848;0.888;0.609	B;B;B	0.38803	0.282;0.253;0.185	T	0.11275	-1.0594	9	0.72032	D	0.01	.	10.3243	0.43783	0.1721:0.0:0.8279:0.0	.	46;46;46	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	46	ENSP00000433416:R46H;ENSP00000436557:R46H;ENSP00000367366:R46H	ENSP00000367366:R46H	R	+	2	0	PCDHA5	140181681	0.004000	0.15560	1.000000	0.80357	0.960000	0.62799	1.772000	0.38552	0.719000	0.32188	0.585000	0.79938	CGC	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372883.2		+	ENST00000529859.1	Missense_Mutation	SNP	5 : 140201497 - 140201497 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	479	7
PGLYRP2	114770	broad.mit.edu	37	19	15586705	15586705	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:15586705G>A	ENST00000292609.4	-	2	905	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.T259M			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	259					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTCCAAAAGCGTAAAGGTCCG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	19		NA											NA				15586705		2203	4300	6503	SO:0001583	missense			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	114770	114770	3.5.1.28		30013	protein-coding gene	gene with protein product	peptidoglycan recognition protein L precursor, peptidoglycan recognition protein-like, N-acetylmuramoyl-L-alanine amidase	608199			NA	11461926, 12669421, 14506276	Standard	NM_052890	NM_052890	NA	Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000292609.4:c.776C>T	19.37:g.15586705G>A	ENSP00000292609:p.Thr259Met	NA	A8K8C7|B2RMZ2|Q68CK1|Q96N74|Q9UC60	37		.	.	.	.	.	.	.	.	.	.	g	3.963	-0.009976	0.07727	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05025	3.53;3.51	5.31	3.19	0.36642	.	0.237201	0.32901	N	0.005502	T	0.07728	0.0194	M	0.76002	2.32	0.22819	N	0.998691	P;P	0.43431	0.807;0.576	B;B	0.37267	0.245;0.048	T	0.31943	-0.9925	10	0.66056	D	0.02	-22.5225	4.5625	0.12166	0.0828:0.1521:0.6077:0.1574	.	259;259	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	M	259	ENSP00000345968:T259M;ENSP00000292609:T259M	ENSP00000292609:T259M	T	-	2	0	PGLYRP2	15447705	0.978000	0.34361	0.446000	0.26920	0.000000	0.00434	2.391000	0.44424	0.647000	0.30713	-1.032000	0.02404	ACG	PGLYRP2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000461335.2		-	ENST00000292609.4	Missense_Mutation	SNP	19 : 15586705 - 15586705 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	223	4
PLCG2	5336	broad.mit.edu	37	16	81942078	81942078	+	Nonsense_Mutation	SNP	A	A	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:81942078A>T	ENST00000359376.3	+	17	1829	c.1615A>T	c.(1615-1617)Aag>Tag	p.K539*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	539	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAGGTGGAGAAGAGGACGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	16		NA											NA				81942078		1995	4162	6157	SO:0001587	stop_gained				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	5336	5336	3.1.4.11	SH2 domain containing	9066	protein-coding gene	gene with protein product		600220			NA	7835906	Standard		XR_248240	NA	Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1615A>T	16.37:g.81942078A>T	ENSP00000352336:p.Lys539*	NA	D3DUL3|Q3ZTS2|Q59H45|Q969T5	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	40	8.275878	0.98737	.	.	ENSG00000197943	ENST00000359376	.	.	.	4.72	4.72	0.59763	.	0.385009	0.29884	N	0.010957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.2706	0.26254	0.8622:0.0:0.1378:0.0	.	.	.	.	X	539	.	ENSP00000352336:K539X	K	+	1	0	PLCG2	80499579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.998000	0.70653	1.770000	0.52166	0.460000	0.39030	AAG	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432429.1		+	ENST00000359376.3	Nonsense_Mutation	SNP	16 : 81942078 - 81942078 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	266	51
POLR1B	84172	broad.mit.edu	37	2	113322044	113322044	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:113322044C>T	ENST00000417433.2	+	9	1576	c.1546C>T	c.(1546-1548)Cca>Tca	p.P516S	POLR1B_ENST00000263331.5_Missense_Mutation_p.P572S|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Missense_Mutation_p.P361S|POLR1B_ENST00000541869.1_Missense_Mutation_p.P610S	NM_001137604.1	NP_001131076.1	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	572					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGATCTTGCTCCAGGCATCGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(16;256 576 9537 23969 41147)							NA				0													275	246	256			NA	NA	2		NA											NA				113322044		2203	4300	6503	SO:0001583	missense			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630	84172	84172		RNA polymerase subunits	20454	protein-coding gene	gene with protein product		602000			NA		Standard	NM_019014	NM_001137604	NA	Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000417433.2:c.1546C>T	2.37:g.113322044C>T	ENSP00000405358:p.Pro516Ser	NA	Q585T5|Q6ZRR2|Q9H9D3	37	CCDS46395.1	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809758	0.16537	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433;ENST00000458012	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.51	5.83	3.97	0.46021	RNA polymerase I, Rpa2 specific (1);	0.150076	0.64402	D	0.000009	T	0.68274	0.2983	L	0.43152	1.355	0.58432	D	0.999992	B;B;B	0.25105	0.118;0.0;0.094	B;B;B	0.33254	0.108;0.003;0.16	T	0.59306	-0.7479	10	0.12766	T	0.61	-13.5536	15.3557	0.74425	0.0:0.7349:0.265:0.0	.	610;516;572	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	S	572;610;361;516;36	ENSP00000263331:P572S;ENSP00000444136:P610S;ENSP00000437914:P361S;ENSP00000405358:P516S;ENSP00000394408:P36S	ENSP00000263331:P572S	P	+	1	0	POLR1B	113038515	1.000000	0.71417	0.534000	0.28014	0.274000	0.26718	3.052000	0.49893	0.738000	0.32606	0.650000	0.86243	CCA	POLR1B-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330626.1		+	ENST00000417433.2	Missense_Mutation	SNP	2 : 113322044 - 113322044 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	640	98
POMC	5443	broad.mit.edu	37	2	25384178	25384178	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:25384178G>A	ENST00000405623.1	-	3	1031	c.576C>T	c.(574-576)gaC>gaT	p.D192D	POMC_ENST00000395826.2_Silent_p.D192D|POMC_ENST00000264708.3_Silent_p.D192D|POMC_ENST00000380794.1_Silent_p.D192D			P01189	COLI_HUMAN	proopiomelanocortin	192					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CGGCAGGGCCGTCGGGGCCAT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(110;1515 1566 8452 10082 43216)							NA				0													12	13	13			NA	NA	2		NA											NA				25384178		2199	4294	6493	SO:0001819	synonymous_variant				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138	5443	5443		Endogenous ligands	9201	protein-coding gene	gene with protein product	adrenocorticotropin, beta-lipotropin, alpha-melanocyte stimulating hormone, beta-melanocyte stimulating hormone, beta-endorphin, adrenocorticotropic hormone, opiomelanocortin prepropeptide	176830			NA	6254047, 9620771	Standard	NM_001035256	NM_001035256	NA	Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.576C>T	2.37:g.25384178G>A		NA	P78442|Q9UD39|Q9UD40	37	CCDS1717.1																																																																																			POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211573.3		-	ENST00000405623.1	Silent	SNP	2 : 25384178 - 25384178 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	97	22
PREX1	57580	broad.mit.edu	37	20	47324917	47324917	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:47324917C>T	ENST00000371941.3	-	6	686	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	PREX1_ENST00000396220.1_Missense_Mutation_p.A222T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTGGACCGCGGGGTGGTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	129	126			NA	NA	20		NA											NA				47324917		2203	4300	6503	SO:0001583	missense			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.664G>A	20.37:g.47324917C>T	ENSP00000361009:p.Ala222Thr	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965570	0.53507	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.64085	-0.08;-0.08	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.53938	U	0.000049	T	0.65575	0.2704	L	0.40543	1.245	0.41921	D	0.990515	D	0.55800	0.973	P	0.51777	0.679	T	0.61337	-0.7083	10	0.29301	T	0.29	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	222	Q8TCU6	PREX1_HUMAN	T	222	ENSP00000361009:A222T;ENSP00000379522:A222T	ENSP00000361009:A222T	A	-	1	0	PREX1	46758324	1.000000	0.71417	0.163000	0.22734	0.196000	0.23810	4.780000	0.62382	2.657000	0.90304	0.655000	0.94253	GCG	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Missense_Mutation	SNP	20 : 47324917 - 47324917 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1534	225
PRSS27	83886	broad.mit.edu	37	16	2763623	2763623	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:2763623G>A	ENST00000302641.3	-	5	639	c.585C>T	c.(583-585)taC>taT	p.Y195Y		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	195	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TGTCTTTGCTGTAGAGCAGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													242	169	194			NA	NA	16		NA											NA				2763623		2198	4300	6498	SO:0001819	synonymous_variant			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382	83886	83886		Serine peptidases / Serine peptidases	15475	protein-coding gene	gene with protein product		608018			NA		Standard	NM_031948	NM_031948	NA	Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.585C>T	16.37:g.2763623G>A		NA		37	CCDS10476.1																																																																																			PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250908.1		-	ENST00000302641.3	Silent	SNP	16 : 2763623 - 2763623 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	423	5
PSG6	5675	broad.mit.edu	37	19	43411874	43411874	+	Missense_Mutation	SNP	G	G	A	rs142652144	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:43411874G>A	ENST00000402603.4	-	4	796				PSG6_ENST00000187910.2_Missense_Mutation_p.P280L|PSG6_ENST00000292125.2_Missense_Mutation_p.P280L					pregnancy specific beta-1-glycoprotein 6	NA										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CGGACTGACCGGGAGGCTCTG	0.478		NA											N	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV	NA	NA	0.0014	SNP								NA				0								G	LEU/PRO,LEU/PRO	11,4391		0,11,2190	276	266	270		839,839	-1.3	0	19	dbSNP_134	270	0,8598		0,0,4299	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	98,98	0,11,6489	AA,AG,GG	NA	0.0,0.2499,0.0846	,	280/425,280/436	43411874	11,12989	2201	4299	6500	SO:0001627	intron_variant				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848	5675	5675		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9523	protein-coding gene	gene with protein product		176395			NA	1690992	Standard	NM_002782	NM_002782	NA	Approved			Q00889	OTTHUMG00000151127	ENST00000402603.4:c.707-546C>T	19.37:g.43411874G>A		NA		37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	0.009	-1.803836	0.00611	0.002499	0.0	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.13307	2.6;2.6	1.42	-1.33	0.09172	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21962	0.0529	L	0.52266	1.64	0.09310	N	1	D;B	0.89917	1.0;0.015	D;B	0.97110	1.0;0.038	T	0.16453	-1.0402	9	0.39692	T	0.17	.	1.6928	0.02856	0.2473:0.0:0.4168:0.3359	.	280;280	Q00889;Q00889-2	PSG6_HUMAN;.	L	280	ENSP00000187910:P280L;ENSP00000292125:P280L	ENSP00000187910:P280L	P	-	2	0	PSG6	48103714	0.000000	0.05858	0.005000	0.12908	0.184000	0.23303	0.090000	0.15025	-0.070000	0.12908	0.134000	0.15878	CCG	PSG6-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321437.2		-	ENST00000402603.4	Intron	SNP	19 : 43411874 - 43411874 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1253	288
PTCH2	8643	broad.mit.edu	37	1	45294946	45294946	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:45294946G>A	ENST00000372192.3	-	10	1384	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	PTCH2_ENST00000447098.2_Silent_p.C418C	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	418	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGACTGGGCGCAGTCCCACC	0.687		NA							Basal Cell Nevus syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	28			NA	NA	1		NA											NA				45294946		2203	4298	6501	SO:0001819	synonymous_variant	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425	8643	8643			9586	protein-coding gene	gene with protein product		603673	patched (Drosophila) homolog 2, patched homolog 2 (Drosophila)		NA	9811851, 9931336	Standard	NM_003738	NM_003738	NA	Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1254C>T	1.37:g.45294946G>A		NA	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	37	CCDS516.1																																																																																			PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023428.4		-	ENST00000372192.3	Silent	SNP	1 : 45294946 - 45294946 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	236	5
PVRL3	25945	broad.mit.edu	37	3	110852707	110852707	+	Missense_Mutation	SNP	G	G	A	rs15611	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:110852707G>A	ENST00000493615.1	+	5	1252				PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000485303.1_Missense_Mutation_p.R432Q	NM_001243288.1	NP_001230217.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	NA					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGGAGAAGACGGACGTTTCGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	140	141			NA	NA	3		NA											NA				110852707		2203	4300	6503	SO:0001627	intron_variant			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707	25945	25945		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	17664	protein-coding gene	gene with protein product		607147			NA	11024295	Standard	NM_015480	NM_015480	NA	Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000493615.1:c.1000+7525G>A	3.37:g.110852707G>A		NA	Q6NVZ3|Q8WVU4|Q9BVA9|Q9Y412	37	CCDS58843.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181044	0.38511	.	.	ENSG00000177707	ENST00000485303	T	0.15834	2.39	5.87	5.87	0.94306	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.064498	0.64402	D	0.000010	T	0.08714	0.0216	N	0.21097	0.63	0.80722	D	1	P	0.48503	0.911	B	0.28991	0.097	T	0.16660	-1.0395	10	0.33940	T	0.23	.	11.0918	0.48121	0.0834:0.0:0.9166:0.0	.	432	Q9NQS3	PVRL3_HUMAN	Q	432	ENSP00000418070:R432Q	ENSP00000418070:R432Q	R	+	2	0	PVRL3	112335397	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.640000	0.67875	2.801000	0.96364	0.454000	0.30748	CGG	PVRL3-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354046.1		+	ENST00000493615.1	Intron	SNP	3 : 110852707 - 110852707 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	405	99
RAB3IL1	5866	broad.mit.edu	37	11	61665800	61665800	+	Missense_Mutation	SNP	G	G	A	rs139969835		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:61665800G>A	ENST00000394836.2	-	10	1256	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R341W	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	367							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						ATCTCCTTCCGCAACCTCATG	0.632		NA									OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4404		0,0,2202	151	152	152		1099	2.7	1	11	dbSNP_134	152	1,8597	1.2+/-3.3	0,1,4298	no	missense	RAB3IL1	NM_013401.2	101	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	367/383	61665800	1,13001	2202	4299	6501	SO:0001583	missense			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994	5866	5866			9780	protein-coding gene	gene with protein product					NA		Standard	NM_013401	NM_013401	NA	Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.1099C>T	11.37:g.61665800G>A	ENSP00000378313:p.Arg367Trp	1055	Q86V32|Q9P1Q8	37	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846352	0.51164	0.0	1.16E-4	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000526200	T;T	0.59906	0.23;0.45	4.71	2.72	0.32119	.	0.000000	0.64402	D	0.000001	T	0.77877	0.4196	M	0.89414	3.03	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.80374	-0.1409	10	0.87932	D	0	-12.9046	12.5917	0.56447	0.0:0.0:0.5926:0.4074	.	341;367	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	W	367;341;50	ENSP00000378313:R367W;ENSP00000301773:R341W	ENSP00000301773:R341W	R	-	1	2	RAB3IL1	61422376	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.023000	0.41040	0.356000	0.24157	0.462000	0.41574	CGG	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394917.1		-	ENST00000394836.2	Missense_Mutation	SNP	11 : 61665800 - 61665800 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1036	7
RCOR2	283248	broad.mit.edu	37	11	63680166	63680166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:63680166G>A	ENST00000301459.4	-	10	1396	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	337	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCAAAAGCTGCTCATCTGTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	11		NA											NA				63680166		2201	4297	6498	SO:0001587	stop_gained			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771	283248	283248			27455	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_173587	NM_173587	NA	Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1009C>T	11.37:g.63680166G>A	ENSP00000301459:p.Gln337*	NA	Q96FP3	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	G	41	8.641449	0.98897	.	.	ENSG00000167771	ENST00000301459	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.4081	0.83697	0.0:0.0:1.0:0.0	.	.	.	.	X	337	.	ENSP00000301459:Q337X	Q	-	1	0	RCOR2	63436742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.524000	0.98036	2.479000	0.83701	0.561000	0.74099	CAG	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318233.1		-	ENST00000301459.4	Nonsense_Mutation	SNP	11 : 63680166 - 63680166 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1074	281
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1120	10
RLN2	6019	broad.mit.edu	37	9	5304476	5304476	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:5304476G>A	ENST00000381627.3	-	1	493	c.105C>T	c.(103-105)tgC>tgT	p.C35C	RLN2_ENST00000308420.3_Silent_p.C35C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	35					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ATTCGCGGCCGCATAATTTAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	9		NA											NA				5304476		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014	6019	6019		Endogenous ligands	10027	protein-coding gene	gene with protein product	relaxin H2, prorelaxin H2, relaxin, ovarian, of pregnancy	179740	relaxin 2 (H2)		NA	6548703, 6548702	Standard	NM_134441	NM_134441	NA	Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.105C>T	9.37:g.5304476G>A		NA	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	37	CCDS6460.1																																																																																			RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051619.1		-	ENST00000381627.3	Silent	SNP	9 : 5304476 - 5304476 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	431	5
RPH3A	22895	broad.mit.edu	37	12	113266105	113266105	+	Splice_Site	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:113266105G>A	ENST00000389385.4	+	3	479		c.e3-1		RPH3A_ENST00000551052.1_Splice_Site|RPH3A_ENST00000543106.2_Splice_Site|RPH3A_ENST00000548866.1_Splice_Site|RPH3A_ENST00000415485.3_Splice_Site|RPH3A_ENST00000447659.2_Splice_Site	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	NA					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGTTTTCCAGGAGCACTAGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	140	148			NA	NA	12		NA											NA				113266105		2203	4300	6503	SO:0001630	splice_region_variant			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169	22895	22895		Synaptotagmins	17056	protein-coding gene	gene with protein product		612159	rabphilin 3A homolog (mouse)		NA	10231032, 7822236	Standard	NM_014954	NM_014954	NA	Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.-18-1G>A	12.37:g.113266105G>A		NA	B7Z3C3|Q96AE0	37	CCDS44979.1																																																																																			RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405561.1	Intron	+	ENST00000389385.4	Splice_Site	SNP	12 : 113266105 - 113266105 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	312	6
RPP30	10556	broad.mit.edu	37	10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:92631801G>A	ENST00000371703.3	+	1	329	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_ENST00000413330.1_Missense_Mutation_p.G20R	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.G20R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											100	104	103			NA	NA	10		NA											NA				92631801		2203	4300	6503	SO:0001583	missense			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688	10556	10556			17688	protein-coding gene	gene with protein product		606115			NA	9037013, 9308968	Standard	NM_006413	NM_006413	NA	Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.58G>A	10.37:g.92631801G>A	ENSP00000360768:p.Gly20Arg	NA	B2R799	37	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832131	0.16820	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882	T;T;T	0.52057	1.03;1.02;0.68	5.32	3.43	0.39272	Polymerase/histidinol phosphatase-like (1);	0.488240	0.23157	N	0.051300	T	0.27063	0.0663	L	0.29908	0.895	0.09310	N	1	P;P;P	0.50710	0.938;0.84;0.87	B;B;B	0.34931	0.192;0.12;0.192	T	0.24764	-1.0151	10	0.62326	D	0.03	.	5.2317	0.15426	0.1767:0.1708:0.6525:0.0	.	20;20;20	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	R	20	ENSP00000360768:G20R;ENSP00000389182:G20R;ENSP00000277882:G20R	ENSP00000277882:G20R	G	+	1	0	RPP30	92621781	0.037000	0.19845	0.067000	0.19924	0.066000	0.16364	0.996000	0.29719	0.779000	0.33543	0.591000	0.81541	GGA	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049347.1		+	ENST00000371703.3	Missense_Mutation	SNP	10 : 92631801 - 92631801 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	752	6
SERINC1	57515	broad.mit.edu	37	6	122773086	122773086	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:122773086T>C	ENST00000339697.4	-	6	790	c.706A>G	c.(706-708)Aac>Gac	p.N236D		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	NA					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGGAGCATGTTGACACTGATG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	89	93			NA	NA	6		NA											NA				122773086		2203	4300	6503	SO:0001583	missense			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897	57515	57515			13464	protein-coding gene	gene with protein product		614548	tumor differentially expressed 2	TDE2	NA	10637174	Standard	NM_020755	NM_020755	NA	Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.706A>G	6.37:g.122773086T>C	ENSP00000342962:p.Asn236Asp	NA	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	T	32	5.185893	0.94885	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.20069	2.1;2.1	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	H	0.95917	3.74	0.80722	D	1	D	0.58268	0.982	D	0.72075	0.976	T	0.70699	-0.4800	10	0.87932	D	0	-14.7994	15.9701	0.80008	0.0:0.0:0.0:1.0	.	236	Q9NRX5	SERC1_HUMAN	D	236	ENSP00000342962:N236D;ENSP00000357439:N236D	ENSP00000342962:N236D	N	-	1	0	SERINC1	122814785	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.166000	0.68216	0.528000	0.53228	AAC	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042031.2		-	ENST00000339697.4	Missense_Mutation	SNP	6 : 122773086 - 122773086 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	295	64
SHKBP1	92799	broad.mit.edu	37	19	41096643	41096643	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:41096643C>T	ENST00000291842.5	+	17	1825	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	SHKBP1_ENST00000600733.1_Silent_p.G567G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	592						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCAGGTGGCCTGACGGAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	65	62			NA	NA	19		NA											NA				41096643		2203	4300	6503	SO:0001819	synonymous_variant			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410	92799	92799		WD repeat domain containing	19214	protein-coding gene	gene with protein product					NA	11152963	Standard	NM_138392	NM_138392	NA	Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1776C>T	19.37:g.41096643C>T		NA	Q8N2I6|Q8WY93|Q96IB8	37	CCDS12560.1																																																																																			SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462613.2		+	ENST00000291842.5	Silent	SNP	19 : 41096643 - 41096643 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	617	95
SLC12A4	6560	broad.mit.edu	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56	57	57		2359,2365,2341,2266,2359	2.2	1	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067	6560	6560		Solute carriers	10913	protein-coding gene	gene with protein product		604119			NA	8663127	Standard	NM_005072	NM_005072	NA	Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp	NA	O60632|O75893|Q13953|Q96LD5	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268864.4		-	ENST00000316341.3	Missense_Mutation	SNP	16 : 67980419 - 67980419 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	340	6
SLC6A2	6530	broad.mit.edu	37	16	55727937	55727937	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:55727937G>A	ENST00000379906.2	+	6	1189	c.934G>A	c.(934-936)Gca>Aca	p.A312T	SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	312					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATTGATGCCGCAACTCAGAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	142	144			NA	NA	16		NA											NA				55727937		2198	4300	6498	SO:0001583	missense				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546	6530	6530		Solute carriers	11048	protein-coding gene	gene with protein product	norepinephrine transporter	163970	solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	NET1, NAT1, SLC6A5	NA	2008212	Standard		NM_001043	NA	Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.934G>A	16.37:g.55727937G>A	ENSP00000369237:p.Ala312Thr	NA	B2R707	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474824	0.43942	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75938	-0.98;-0.98;-0.98	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	M	0.88031	2.925	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.91031	0.4864	10	0.87932	D	0	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	312;26;207;312	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	T	312;26;312;312	ENSP00000394956:A312T;ENSP00000369237:A312T;ENSP00000219833:A312T	ENSP00000219833:A312T	A	+	1	0	SLC6A2	54285438	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.501000	0.97979	2.196000	0.70406	0.561000	0.74099	GCA	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256922.2		+	ENST00000379906.2	Missense_Mutation	SNP	16 : 55727937 - 55727937 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	538	5
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				11	Substitution - coding silent(11)	endometrium(10)|prostate(1)											253	273	266			NA	NA	7		NA											NA				99913460		2091	3956	6047	SO:0001819	synonymous_variant			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300	441272	441272		Speedy homologs	35462	protein-coding gene	gene with protein product			speedy homolog E3 (Xenopus laevis)		NA		Standard	NM_001004351	NM_001004351	NA	Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G		NA	Q495Y9|Q6PHC4	37	CCDS47658.2																																																																																			SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340224.2		+	ENST00000332397.6	Silent	SNP	7 : 99913460 - 99913460 G PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1416	10
ST6GAL2	84620	broad.mit.edu	37	2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:107450522G>A	ENST00000409382.3	-	3	1634	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	342					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											224	213	217			NA	NA	2		NA											NA				107450522		2203	4300	6503	SO:0001583	missense			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	84620	84620	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	sialyltransferase 2 (monosialoganglioside sialyltransferase)	SIAT2	NA		Standard	NM_032528	NM_032528	NA	Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1024C>T	2.37:g.107450522G>A	ENSP00000386942:p.Arg342Cys	NA	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78924	-1.22;-1.22;-1.22	6.03	6.03	0.97812	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94296	0.7533	10	0.87932	D	0	-37.1524	19.545	0.95291	0.0:0.0:1.0:0.0	.	342;342	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	C	342	ENSP00000355273:R342C;ENSP00000386942:R342C;ENSP00000387332:R342C	ENSP00000355273:R342C	R	-	1	0	ST6GAL2	106816954	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGC	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330065.1		-	ENST00000409382.3	Missense_Mutation	SNP	2 : 107450522 - 107450522 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	465	78
STC2	8614	broad.mit.edu	37	5	172744926	172744926	+	Missense_Mutation	SNP	C	C	T	rs145310530		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:172744926C>T	ENST00000265087.4	-	4	2142	c.833G>A	c.(832-834)gGc>gAc	p.G278D		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	278					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCCCAAGGCCCCCGACTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	5		NA											NA				172744926		2203	4300	6503	SO:0001583	missense			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739	8614	8614			11374	protein-coding gene	gene with protein product		603665			NA	9723890, 9753616	Standard	NM_003714	NM_003714	NA	Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.833G>A	5.37:g.172744926C>T	ENSP00000265087:p.Gly278Asp	NA		37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978009	0.34942	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.31	1.1	0.20463	.	0.502817	0.22661	N	0.057194	T	0.22205	0.0535	N	0.24115	0.695	0.09310	N	0.999996	B	0.10296	0.003	B	0.09377	0.004	T	0.10064	-1.0646	9	0.38643	T	0.18	-5.3352	2.7467	0.05268	0.2356:0.2927:0.3461:0.1256	.	278	O76061	STC2_HUMAN	D	278	.	ENSP00000265087:G278D	G	-	2	0	STC2	172677532	0.000000	0.05858	0.000000	0.03702	0.913000	0.54294	-0.238000	0.08977	0.181000	0.19994	0.650000	0.86243	GGC	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252965.1		-	ENST00000265087.4	Missense_Mutation	SNP	5 : 172744926 - 172744926 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	581	139
TBC1D9	23158	broad.mit.edu	37	4	141622724	141622724	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:141622724G>A	ENST00000442267.2	-	2	249	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	59						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGAGCGACCCGGGCGCTGGAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	4		NA											NA				141622724		1916	4122	6038	SO:0001583	missense			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436	23158	23158		EF-hand domain containing	21710	protein-coding gene	gene with protein product			TBC1 domain family, member 9		NA	12970790	Standard	NM_015130	NM_015130	NA	Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.175C>T	4.37:g.141622724G>A	ENSP00000411197:p.Arg59Trp	NA	A6H8U8|D3DNZ1|O94958	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148616	0.78001	.	.	ENSG00000109436	ENST00000442267	T	0.23552	1.9	5.39	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51403	-0.8710	10	0.87932	D	0	-4.7968	10.5771	0.45233	0.0:0.0:0.4702:0.5298	.	59	Q6ZT07	TBCD9_HUMAN	W	59	ENSP00000411197:R59W	ENSP00000411197:R59W	R	-	1	2	TBC1D9	141842174	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	4.245000	0.58734	1.314000	0.45095	0.655000	0.94253	CGG	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364806.1		-	ENST00000442267.2	Missense_Mutation	SNP	4 : 141622724 - 141622724 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	227	37
TENM3	55714	broad.mit.edu	37	4	183522232	183522232	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:183522232C>T	ENST00000511685.1	+	4	790	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	TENM3_ENST00000406950.2_Missense_Mutation_p.P223S					teneurin transmembrane protein 3	NA											NA						GGCTGCTTTGCCCGCCGAGCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	80	77			NA	NA	4		NA											NA				183522232		1887	4105	5992	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.667C>T	4.37:g.183522232C>T	ENSP00000424226:p.Pro223Ser	NA		37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479129	0.63849	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.28454	1.61;1.61;1.61	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.32133	0.0819	L	0.35854	1.095	0.53005	D	0.999966	P	0.38300	0.626	B	0.39465	0.3	T	0.03957	-1.0989	9	0.52906	T	0.07	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	223	Q9P273	TEN3_HUMAN	S	223;223;81	ENSP00000424226:P223S;ENSP00000385276:P223S;ENSP00000426914:P81S	ENSP00000385276:P223S	P	+	1	0	ODZ3	183759226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.933000	0.70130	2.718000	0.92993	0.557000	0.71058	CCC	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183522232 - 183522232 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	636	6
TNXB	7148	broad.mit.edu	37	6	32046862	32046862	+	Silent	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:32046862G>A	ENST00000375244.3	-	11	4524	c.4323C>T	c.(4321-4323)taC>taT	p.Y1441Y	TNXB_ENST00000375247.2_Silent_p.Y1441Y			P22105	TENX_HUMAN	tenascin XB	1528					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGGTGCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,2591		0,1,1295	54	62	59		4323	-5.5	0.7	6		59	0,5136		0,0,2568	no	coding-synonymous	TNXB	NM_019105.6		0,1,3863	AA,AG,GG	NA	0.0,0.0386,0.0129		1441/4243	32046862	1,7727	1296	2568	3864	SO:0001819	synonymous_variant			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4323C>T	6.37:g.32046862G>A		NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37																																																																																				TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Silent	SNP	6 : 32046862 - 32046862 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	376	5
TPM1	7168	broad.mit.edu	37	15	63353068	63353068	+	Splice_Site	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:63353068G>T	ENST00000357980.4	+	6	698	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	TPM1_ENST00000559397.1_Splice_Site_p.V165L|TPM1_ENST00000334895.5_Splice_Site_p.V129L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Splice_Site_p.V129L|TPM1_ENST00000317516.7_Splice_Site_p.V129L|TPM1_ENST00000358278.3_Splice_Site_p.V165L|TPM1_ENST00000560959.1_Splice_Site_p.V129L|TPM1_ENST00000403994.3_Splice_Site_p.V165L|TPM1_ENST00000559556.1_Splice_Site_p.V165L|TPM1_ENST00000267996.7_Splice_Site_p.V165L|TPM1_ENST00000404484.4_Splice_Site_p.V129L|TPM1_ENST00000288398.6_Splice_Site_p.V165L			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	165					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CCTGCTGCAGGTGGCCCGTAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	83			NA	NA	15		NA											NA				63353068		2203	4300	6503	SO:0001630	splice_region_variant			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416	7168	7168		Tropomyosins	12010	protein-coding gene	gene with protein product		191010	chromosome 15 open reading frame 13, cardiomyopathy, hypertrophic 3	C15orf13, CMH3	NA	10343096, 8205619	Standard	NM_001018004	XM_005254637	NA	Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000357980.4:c.619-1G>T	15.37:g.63353068G>T		NA	B7Z5T7|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.490295	0.84962	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.58	5.58	0.84498	.	0.000000	0.44902	D	0.000411	D	0.99032	0.9669	M	0.92507	3.315	0.80722	D	1	P;P;D;P;B;B;P;D;D;D;D;P;P;P	0.69078	0.486;0.841;0.997;0.47;0.352;0.314;0.912;0.985;0.966;0.995;0.98;0.848;0.836;0.912	P;P;D;B;B;B;D;D;D;D;D;P;P;D	0.75020	0.622;0.846;0.985;0.337;0.261;0.366;0.919;0.957;0.961;0.965;0.979;0.817;0.87;0.919	D	0.99541	1.0963	9	.	.	.	-30.939	18.5512	0.91065	0.0:0.0:1.0:0.0	.	129;129;165;131;129;129;165;207;165;165;165;165;165;165	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	L	165;165;165;165;207;187;129;131	ENSP00000288398:V165L;ENSP00000267996:V165L;ENSP00000351022:V165L;ENSP00000385107:V165L;ENSP00000350667:V207L;ENSP00000334624:V129L	.	V	+	1	0	TPM1	61140121	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.628000	0.89032	0.491000	0.48974	GTG	TPM1-008	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000417087.2	Missense_Mutation	+	ENST00000357980.4	Splice_Site	SNP	15 : 63353068 - 63353068 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	342	62
TRDN	10345	broad.mit.edu	37	6	123539785	123539785	+	Silent	SNP	A	A	G			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:123539785A>G	ENST00000334268.4	-	40	2444	c.2127T>C	c.(2125-2127)ggT>ggC	p.G709G	TRDN_ENST00000398178.3_Silent_p.G717G			Q13061	TRDN_HUMAN	triadin	717					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)		AATTTGCTTGACCAGAGCTCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	107	109			NA	NA	6		NA											NA				123539785		1887	4114	6001	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.2127T>C	6.37:g.123539785A>G		NA		37																																																																																				TRDN-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000042050.1		-	ENST00000334268.4	Silent	SNP	6 : 123539785 - 123539785 G PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	132	21
TRPM3	80036	broad.mit.edu	37	9	73442926	73442926	+	Silent	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:73442926C>T	ENST00000377111.2	-	6	1053	c.810G>A	c.(808-810)cgG>cgA	p.R270R	TRPM3_ENST00000377105.1_Silent_p.R117R|TRPM3_ENST00000358082.3_Silent_p.R117R|TRPM3_ENST00000396292.4_Silent_p.R117R|TRPM3_ENST00000423814.3_Silent_p.R272R|TRPM3_ENST00000357533.2_Silent_p.R272R|TRPM3_ENST00000377101.1_Silent_p.R117R|TRPM3_ENST00000377110.3_Silent_p.R270R|TRPM3_ENST00000396283.1_Silent_p.R117R|TRPM3_ENST00000396280.5_Silent_p.R117R|TRPM3_ENST00000408909.2_Silent_p.R117R|TRPM3_ENST00000377106.1_Silent_p.R117R|TRPM3_ENST00000360823.2_Silent_p.R117R|TRPM3_ENST00000396285.1_Silent_p.R117R|TRPM3_ENST00000361823.5_Silent_p.R117R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	270						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGGTATGGCCGGACAACCT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,,,	0,4406		0,0,2203	151	143	146		351,810,351,351,351,351,351,351,351	1.7	1	9		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	,,,,,,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,,,,,,	117/256,270/1708,117/1555,117/1567,117/1545,117/1557,117/1580,117/1570,117/231	73442926	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.810G>A	9.37:g.73442926C>T		NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.	.	.	.	.	.	.	.	.	.	C	9.804	1.181369	0.21787	0.0	1.16E-4	ENSG00000083067	ENST00000396280	.	.	.	5.83	1.69	0.24217	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-20.7328	4.1127	0.10067	0.2451:0.4474:0.0:0.3075	.	.	.	.	T	117	.	.	A	-	1	0	TRPM3	72632746	0.626000	0.27120	0.998000	0.56505	0.980000	0.70556	-0.166000	0.09954	0.371000	0.24564	0.650000	0.86243	GCC	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Silent	SNP	9 : 73442926 - 73442926 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	523	5
TTN	7273	broad.mit.edu	37	2	179466769	179466769	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:179466769G>A	ENST00000589042.1	-	284	55453	c.55229C>T	c.(55228-55230)tCa>tTa	p.S18410L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15842L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9345L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9470L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9537L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16769L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16769	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCAAGATGATTTTGGTGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	168	169			NA	NA	2		NA											NA				179466769		1875	4113	5988	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.55229C>T	2.37:g.179466769G>A	ENSP00000467141:p.Ser18410Leu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512432	0.44660	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50803	0.1637	N	0.11789	0.175	0.34748	D	0.731475	B;B;B;B	0.28128	0.101;0.101;0.201;0.101	B;B;B;B	0.28385	0.089;0.089;0.089;0.089	T	0.59778	-0.7390	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	9345;9470;9537;16769	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15842;9345;9537;9470;9345	ENSP00000343764:S15842L;ENSP00000434586:S9345L;ENSP00000340554:S9537L;ENSP00000352154:S9470L	ENSP00000340554:S9537L	S	-	2	0	TTN	179175014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.885000	0.99019	0.655000	0.94253	TCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179466769 - 179466769 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	526	104
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358		NA	Mis		CLL, MDS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201	7307	7307		RNA binding motif (RRM) containing	12453	protein-coding gene	gene with protein product		191317	U2(RNU2) small nuclear RNA auxiliary factor binding protein, U2(RNU2) small nuclear RNA auxiliary factor 1	U2AFBP	NA	8660980, 7956352	Standard	NM_006758	NM_006758	NA	Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	NA		37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195541.1		-	ENST00000291552.4	Missense_Mutation	SNP	21 : 44524456 - 44524456 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	236	39
UNC80	285175	broad.mit.edu	37	2	210637852	210637852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:210637852G>T	ENST00000272845.6	+	2	161	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	UNC80_ENST00000439458.1_Nonsense_Mutation_p.E43*|UNC80_ENST00000478701.1_3'UTR	NM_182587.3	NP_872393.3	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	NA						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAAGCAATATGAAGCTTCTTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	2		NA											NA				210637852		2203	4300	6503	SO:0001587	stop_gained			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406	285175	285175			26582	protein-coding gene	gene with protein product		612636	chromosome 2 open reading frame 21	C2orf21	NA	19092807	Standard	NM_182587	NM_032504	NA	Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000272845.6:c.127G>T	2.37:g.210637852G>T	ENSP00000272845:p.Glu43*	NA	B2RN50|B4DQY9|B4DZB3|C4IXS8|Q96JI4|Q96SS0	37	CCDS2387.2	.	.	.	.	.	.	.	.	.	.	G	36	5.638232	0.96693	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	.	.	.	5.18	4.3	0.51218	.	0.057465	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7875	0.63119	0.0745:0.0:0.9255:0.0	.	.	.	.	X	43	.	ENSP00000272845:E43X	E	+	1	0	UNC80	210346097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.976000	0.88070	1.318000	0.45170	0.655000	0.94253	GAA	UNC80-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336930.2		+	ENST00000272845.6	Nonsense_Mutation	SNP	2 : 210637852 - 210637852 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	212	36
UPK2	7379	broad.mit.edu	37	11	118828843	118828843	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118828843G>A	ENST00000264031.2	+	5	490	c.455G>A	c.(454-456)cGc>cAc	p.R152H	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	152					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGTATGGCCCGCACAGGGGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	11		NA											NA				118828843		2200	4295	6495	SO:0001583	missense			Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375	7379	7379			12579	protein-coding gene	gene with protein product	uroplakin II, uroplakin-2	611558			NA	9515818, 9846985	Standard	NM_006760	NM_006760	NA	Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.455G>A	11.37:g.118828843G>A	ENSP00000264031:p.Arg152His	NA	B0YJ92|O00457|Q53YV0	37	CCDS8404.1	.	.	.	.	.	.	.	.	.	.	g	17.59	3.427814	0.62733	.	.	ENSG00000110375	ENST00000534788;ENST00000264031	T	0.41400	1.0	5.43	4.51	0.55191	.	0.151206	0.31134	N	0.008188	T	0.61311	0.2337	M	0.65975	2.015	0.26235	N	0.978957	D	0.89917	1.0	D	0.87578	0.998	T	0.56908	-0.7901	10	0.46703	T	0.11	-3.4525	13.3218	0.60436	0.0836:0.0:0.9164:0.0	.	152	O00526	UPK2_HUMAN	H	18;152	ENSP00000264031:R152H	ENSP00000264031:R152H	R	+	2	0	UPK2	118334053	1.000000	0.71417	0.969000	0.41365	0.873000	0.50193	3.661000	0.54503	0.802000	0.34089	-0.937000	0.02696	CGC	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389311.1		+	ENST00000264031.2	Missense_Mutation	SNP	11 : 118828843 - 118828843 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	372	5
VCAN	1462	broad.mit.edu	37	5	82876174	82876174	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:82876174C>T	ENST00000265077.3	+	15	10677	c.10112C>T	c.(10111-10113)tCa>tTa	p.S3371L	VCAN_ENST00000342785.4_Missense_Mutation_p.S1617L|VCAN_ENST00000502527.2_Missense_Mutation_p.S630L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S2384L|VCAN_ENST00000512590.2_Missense_Mutation_p.S1569L|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3371					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAAATTCCTCATCAGCAAAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	5		NA											NA				82876174		2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.10112C>T	5.37:g.82876174C>T	ENSP00000265077:p.Ser3371Leu	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957027	0.53293	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.87029	-2.19;-2.2;-1.94;-1.94;-1.85	5.8	5.8	0.92144	.	0.000000	0.44483	D	0.000456	D	0.89750	0.6805	N	0.24115	0.695	0.38290	D	0.942687	D;B;P;D	0.89917	0.999;0.386;0.502;1.0	D;B;B;D	0.74023	0.964;0.23;0.403;0.982	D	0.91528	0.5240	10	0.72032	D	0.01	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	1617;630;2384;3371	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	L	3371;2384;1617;1569;630	ENSP00000265077:S3371L;ENSP00000340062:S2384L;ENSP00000342768:S1617L;ENSP00000425959:S1569L;ENSP00000421362:S630L	ENSP00000265077:S3371L	S	+	2	0	VCAN	82911930	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.512000	0.60469	2.744000	0.94065	0.655000	0.94253	TCA	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82876174 - 82876174 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	280	65
WWP2	11060	broad.mit.edu	37	16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527		NA									OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	115	116			NA	NA	16		NA											NA				69832593		2198	4300	6498	SO:0001583	missense			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.79G>A	16.37:g.69832593G>A	ENSP00000352069:p.Ala27Thr	1117	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551721	0.86127	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198406	0.45606	D	0.000349	T	0.76054	0.3934	M	0.67397	2.05	0.80722	D	1	P	0.46020	0.871	B	0.32583	0.148	T	0.78339	-0.2242	9	.	.	.	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	27	O00308	WWP2_HUMAN	T	27	ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T	.	A	+	1	0	WWP2	68390094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.778000	0.62368	2.713000	0.92767	0.655000	0.94253	GCA	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Missense_Mutation	SNP	16 : 69832593 - 69832593 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	490	6
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000369680.4_Silent_p.C502C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - coding silent(4)	lung(4)											174	154	161			NA	NA	10		NA											NA				111630550		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	7511	7511	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	X-prolyl aminopeptidase (aminopeptidase P)-like	XPNPEP, XPNPEPL1, XPNPEPL	NA		Standard		NM_020383	NA	Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A		NA	O15250|Q53EX6|Q8N3Q0|Q96D23	37	CCDS7560.2																																																																																			XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050264.2		-	ENST00000502935.1	Silent	SNP	10 : 111630550 - 111630550 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	548	7
XYLT1	64131	broad.mit.edu	37	16	17352929	17352929	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:17352929G>A	ENST00000261381.6	-	3	913	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCCTGGCGGCAGTGCTTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	64	66			NA	NA	16		NA											NA				17352929		2197	4300	6497	SO:0001583	missense			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.829C>T	16.37:g.17352929G>A	ENSP00000261381:p.Arg277Cys	NA	Q9H1B6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508056	0.85282	.	.	ENSG00000103489	ENST00000261381	T	0.07444	3.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:0.0:1.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	C	277	ENSP00000261381:R277C	ENSP00000261381:R277C	R	-	1	0	XYLT1	17260430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.547000	0.85894	0.655000	0.94253	CGC	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Missense_Mutation	SNP	16 : 17352929 - 17352929 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	462	82
ZBTB4	57659	broad.mit.edu	37	17	7369754	7369754	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:7369754G>A	ENST00000311403.4	-	3	706	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGACCCGGGGTGGGGAAGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	16	15			NA	NA	17		NA											NA				7369754		2169	4265	6434	SO:0001583	missense			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282	57659	57659		-, BTB/POZ domain containing, Zinc fingers, C2H2-type	23847	protein-coding gene	gene with protein product		612308			NA	12477932	Standard	NM_020899	NM_020899	NA	Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.367C>T	17.37:g.7369754G>A	ENSP00000307858:p.Pro123Ser	NA	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034919	0.35893	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.46451	0.87;0.87	4.5	4.5	0.54988	BTB/POZ-like (2);BTB/POZ fold (2);	0.081322	0.48286	N	0.000193	T	0.14485	0.0350	N	0.01464	-0.85	0.34368	D	0.691707	B	0.33413	0.411	B	0.23018	0.043	T	0.16719	-1.0393	10	0.59425	D	0.04	-17.1852	8.349	0.32290	0.1059:0.0:0.8941:0.0	.	123	Q9P1Z0	ZBTB4_HUMAN	S	123	ENSP00000307858:P123S;ENSP00000369973:P123S	ENSP00000307858:P123S	P	-	1	0	ZBTB4	7310478	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	1.958000	0.40402	2.332000	0.79248	0.462000	0.41574	CCC	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226940.2		-	ENST00000311403.4	Missense_Mutation	SNP	17 : 7369754 - 7369754 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	106	8
ZEB2	9839	broad.mit.edu	37	2	145162490	145162490	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:145162490G>A	ENST00000558170.2	-	5	1689	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	ZEB2_ENST00000409487.3_Missense_Mutation_p.R169C|ZEB2_ENST00000303660.4_Missense_Mutation_p.R169C|ZEB2_ENST00000539609.3_Missense_Mutation_p.R145C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	169						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTCACTGCGCTGAAGGTAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(33;1235 1264 5755 16332)							NA				0													90	75	80			NA	NA	2		NA											NA				145162490		2203	4300	6503	SO:0001583	missense			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554	9839	9839		Zinc fingers, C2H2-type, Homeoboxes / ZF class	14881	protein-coding gene	gene with protein product	SMAD interacting protein 1	605802	zinc finger homeobox 1b	ZFHX1B	NA		Standard	NM_014795	NM_014795	NA	Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.505C>T	2.37:g.145162490G>A	ENSP00000454157:p.Arg169Cys	NA	A0JP09|Q9UED1	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489988	0.64074	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.948;0.948;0.948	D	0.86852	0.2024	10	0.87932	D	0	-8.3326	20.0114	0.97452	0.0:0.0:1.0:0.0	.	145;34;168;169	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	C	164;145;169;169;169;169	ENSP00000443792:R145C;ENSP00000302501:R169C;ENSP00000386854:R169C;ENSP00000395496:R169C;ENSP00000376601:R169C	ENSP00000302501:R169C	R	-	1	0	ZEB2	144878960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.820000	0.86633	2.795000	0.96236	0.655000	0.94253	CGC	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254778.5		-	ENST00000558170.2	Missense_Mutation	SNP	2 : 145162490 - 145162490 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	195	34
ZNF212	7988	broad.mit.edu	37	7	148951330	148951330	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:148951330C>T	ENST00000335870.2	+	5	1440	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGCTTCAGTCACCCATCTGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	108	121			NA	NA	7		NA											NA				148951330		2203	4300	6503	SO:0001583	missense			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260	7988	7988		Zinc fingers, C2H2-type, -	13004	protein-coding gene	gene with protein product		602386			NA	9169157	Standard	NM_012256	NM_012256	NA	Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1312C>T	7.37:g.148951330C>T	ENSP00000338572:p.His438Tyr	NA	B2RCF4|Q13396|Q8N664	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789182	0.70337	.	.	ENSG00000170260	ENST00000335870	T	0.06528	3.29	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000051	T	0.10895	0.0266	N	0.19112	0.55	0.37851	D	0.92938	D	0.67145	0.996	D	0.65010	0.931	T	0.43147	-0.9409	10	0.16420	T	0.52	-15.4352	14.3872	0.66953	0.0:1.0:0.0:0.0	.	438	Q9UDV6	ZN212_HUMAN	Y	438	ENSP00000338572:H438Y	ENSP00000338572:H438Y	H	+	1	0	ZNF212	148582263	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	0.028000	0.13644	2.536000	0.85505	0.561000	0.74099	CAC	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352710.1		+	ENST00000335870.2	Missense_Mutation	SNP	7 : 148951330 - 148951330 T PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	376	64
ZNF646	9726	broad.mit.edu	37	16	31090857	31090857	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:31090857G>A	ENST00000394979.2	+	1	3635	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H			O15015	ZN646_HUMAN	zinc finger protein 646	1071					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTGAACCACCGCAAGATCCAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4394		0,0,2197	138	144	142		3212	4.8	1	16		142	1,8599		0,1,4299	no	missense	ZNF646	NM_014699.3	29	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1071/1833	31090857	1,12993	2197	4300	6497	SO:0001583	missense			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395	9726	9726		Zinc fingers, C2H2-type	29004	protein-coding gene	gene with protein product					NA		Standard	NM_014699	NM_014699	NA	Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3212G>A	16.37:g.31090857G>A	ENSP00000378429:p.Arg1071His	NA	Q8IVD8	37		.	.	.	.	.	.	.	.	.	.	G	20.5	4.004264	0.74932	0.0	1.16E-4	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.52057	0.68;0.68	5.75	4.78	0.61160	.	.	.	.	.	T	0.33147	0.0853	L	0.31065	0.9	0.33612	D	0.603727	D	0.56521	0.976	B	0.41813	0.367	T	0.51498	-0.8698	9	0.62326	D	0.03	-15.9326	5.5911	0.17301	0.1514:0.0:0.6807:0.1679	.	1071	O15015-2	.	H	1071	ENSP00000300850:R1071H;ENSP00000378429:R1071H	ENSP00000300850:R1071H	R	+	2	0	ZNF646	30998358	0.512000	0.26186	1.000000	0.80357	0.987000	0.75469	1.081000	0.30791	1.389000	0.46526	0.563000	0.77884	CGC	ZNF646-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000108510.2		+	ENST00000394979.2	Missense_Mutation	SNP	16 : 31090857 - 31090857 A PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	1057	8
ZNF728	388523	broad.mit.edu	37	19	23159750	23159750	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:23159750T>C	ENST00000594710.1	-	4	534	c.389A>G	c.(388-390)tAt>tGt	p.Y130C		NM_001267716.1	NP_001254645.1			zinc finger protein 728	NA											NA						AAGCTTATTATAACCTTTTTT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067	388523	388523		Zinc fingers, C2H2-type, -	32463	protein-coding gene	gene with protein product					NA		Standard	NM_001267716	NM_001267716	NA	Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.389A>G	19.37:g.23159750T>C	ENSP00000471593:p.Tyr130Cys	NA		37	CCDS59370.1																																																																																			ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465176.1		-	ENST00000594710.1	Missense_Mutation	SNP	19 : 23159750 - 23159750 C PAAD-TCGA-US-A77E-Tumor-SM-4WPAG	149	21
