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
AAMDC	28971	broad.mit.edu	37	11	77580841	77580841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:77580841G>A	ENST00000532481.1	+	3	296	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	AAMDC_ENST00000527134.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|AAMDC_ENST00000525409.1_Intron|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|AAMDC_ENST00000526415.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q					adipogenesis associated, Mth938 domain containing	NA											NA						GTGATTGGCCGAGGGATGAGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													327	305	312			NA	NA	11		NA											NA				77580841		2200	4292	6492	SO:0001583	missense			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884	28971	28971			30205	protein-coding gene	gene with protein product			chromosome 11 open reading frame 67	C11orf67	NA	12477932	Standard	NM_024684	NM_024684	NA	Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000532481.1:c.206G>A	11.37:g.77580841G>A	ENSP00000433293:p.Arg69Gln	NA		37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.791614	0.90367	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.54	3.64	0.41730	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.72894	2.215	0.42845	D	0.994062	D;P;P	0.89917	1.0;0.48;0.545	D;B;B	0.69654	0.965;0.017;0.07	D	0.87118	0.2189	10	0.72032	D	0.01	-11.3001	12.3594	0.55194	0.1403:0.0:0.8597:0.0	.	69;69;69	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	Q	69;69;69;69;69;115;88	ENSP00000433293:R69Q;ENSP00000431808:R69Q;ENSP00000377078:R69Q;ENSP00000433281:R69Q;ENSP00000307254:R69Q;ENSP00000436086:R115Q;ENSP00000432830:R88Q	ENSP00000307254:R69Q	R	+	2	0	C11orf67	77258489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.454000	0.73493	1.582000	0.49881	0.650000	0.86243	CGA	AAMDC-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390974.1		+	ENST00000532481.1	Missense_Mutation	SNP	11 : 77580841 - 77580841 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	868	6
ABCA1	19	broad.mit.edu	37	9	107556682	107556682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:107556682G>A	ENST00000374736.3	-	40	5886	c.5492C>T	c.(5491-5493)gCc>gTc	p.A1831V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1831					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTTCCAGGGCATCAGCCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	146	151			NA	NA	9		NA											NA				107556682		2203	4300	6503	SO:0001583	missense			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5492C>T	9.37:g.107556682G>A	ENSP00000363868:p.Ala1831Val	NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460143	0.43736	.	.	ENSG00000165029	ENST00000374736	D	0.88664	-2.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.33189	0.99	0.80722	D	1	B	0.27450	0.179	B	0.33960	0.173	T	0.80339	-0.1424	10	0.12430	T	0.62	.	19.6523	0.95822	0.0:0.0:1.0:0.0	.	1831	O95477	ABCA1_HUMAN	V	1831	ENSP00000363868:A1831V	ENSP00000363868:A1831V	A	-	2	0	ABCA1	106596503	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.864000	0.99589	2.641000	0.89580	0.650000	0.86243	GCC	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1		-	ENST00000374736.3	Missense_Mutation	SNP	9 : 107556682 - 107556682 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	662	6
ADAM19	8728	broad.mit.edu	37	5	156915309	156915309	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:156915309C>T	ENST00000257527.4	-	21	2592	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ADAM19_ENST00000430702.2_Silent_p.R571R|ADAM19_ENST00000517905.1_Silent_p.R838R|ADAM19_ENST00000394020.1_Silent_p.R840R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	838					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAATTGGCCGGCTTGGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	98	96			NA	NA	5		NA											NA				156915309		2203	4300	6503	SO:0001819	synonymous_variant			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074	8728	8728		ADAM metallopeptidase domain containing	197	protein-coding gene	gene with protein product	meltrin beta	603640	a disintegrin and metalloproteinase domain 19 (meltrin beta)		NA	9806848	Standard	NM_033274	NM_033274	NA	Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000257527.4:c.2514G>A	5.37:g.156915309C>T		NA	Q9BZL5|Q9UHP2	37	CCDS4338.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176471	0.09443	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.69	2.92	0.33932	.	.	.	.	.	T	0.59059	0.2166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54077	-0.8347	4	.	.	.	.	9.7224	0.40311	0.0:0.7816:0.0:0.2184	.	.	.	.	D	409	.	.	G	-	2	0	ADAM19	156847887	0.988000	0.35896	0.998000	0.56505	0.351000	0.29236	0.032000	0.13732	0.738000	0.32606	0.491000	0.48974	GGC	ADAM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252566.1		-	ENST00000257527.4	Silent	SNP	5 : 156915309 - 156915309 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1024	7
ADAMTS19	171019	broad.mit.edu	37	5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	628	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTACCAGCAGGACCTCAGCA	0.507		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	5		NA											NA				128983486		2203	4300	6503	SO:0001583	missense			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808	171019	171019		ADAM metallopeptidases with thrombospondin type 1 motif	17111	protein-coding gene	gene with protein product		607513	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19		NA	11867212	Standard	NM_133638	NM_133638	NA	Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1883G>A	5.37:g.128983486G>A	ENSP00000274487:p.Arg628Lys	NA		37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000145808	ENST00000274487	T	0.62232	0.04	4.71	3.84	0.44239	.	0.133374	0.47852	N	0.000212	T	0.32645	0.0836	N	0.04245	-0.25	0.33562	D	0.59748	B	0.06786	0.001	B	0.04013	0.001	T	0.32348	-0.9910	9	.	.	.	.	6.0807	0.19940	0.1582:0.0:0.6875:0.1543	.	628	Q8TE59	ATS19_HUMAN	K	628	ENSP00000274487:R628K	.	R	+	2	0	ADAMTS19	129011385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.233000	0.43027	1.586000	0.49944	0.650000	0.86243	AGG	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250979.2		+	ENST00000274487.4	Missense_Mutation	SNP	5 : 128983486 - 128983486 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	755	275
AFF2	2334	broad.mit.edu	37	X	147744171	147744171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:147744171C>A	ENST00000370460.2	+	3	1402	c.923C>A	c.(922-924)tCa>tAa	p.S308*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	308					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAACCTTCAATTGAATTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	X		NA											NA				147744171		2203	4300	6503	SO:0001587	stop_gained			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.923C>A	X.37:g.147744171C>A	ENSP00000359489:p.Ser308*	NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41	8.941224	0.99010	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.92	4.89	0.63831	.	0.113933	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8604	0.70376	0.0:0.9173:0.0:0.0827	.	.	.	.	X	308;304;304;304	.	ENSP00000345459:S304X	S	+	2	0	AFF2	147551863	0.999000	0.42202	0.959000	0.39883	0.949000	0.60115	4.247000	0.58750	2.492000	0.84095	0.600000	0.82982	TCA	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Nonsense_Mutation	SNP	X : 147744171 - 147744171 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	303	6
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	480	7
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000409749.3	-	6	1226	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Silent_p.P380P	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4234		0,0,2117	59	73	68		1227	-6.2	0.1	2		68	3,8487		0,3,4242	yes	coding-synonymous	ASB18	NM_212556.2		0,3,6359	TT,TC,CC	NA	0.0353,0.0,0.0236		409/467	237103689	3,12721	2117	4245	6362	SO:0001819	synonymous_variant			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177	401036	401036		Ankyrin repeat domain containing	19770	protein-coding gene	gene with protein product			ankyrin repeat and SOCS box-containing 18		NA	12076535	Standard	NM_212556	NM_212556	NA	Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1227G>A	2.37:g.237103689C>T		NA	B6ZDL7	37	CCDS46548.1																																																																																			ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329436.1		-	ENST00000409749.3	Silent	SNP	2 : 237103689 - 237103689 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	189	67
ATP6V0A1	535	broad.mit.edu	37	17	40666417	40666417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:40666417G>A	ENST00000343619.4	+	21	2482	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	787					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CACCCTGACCGTGGCCATCCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	168	178			NA	NA	17		NA											NA				40666417		2203	4300	6503	SO:0001583	missense			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627	535	535		ATPases / V-type	865	protein-coding gene	gene with protein product		192130	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD), ATPase, H+ transporting, lysosomal V0 subunit a isoform 1, ATPase, H+ transporting, lysosomal V0 subunit A1	VPP1, ATP6N1, ATP6N1A	NA	7774924	Standard	NM_001130020	NM_001130020	NA	Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2359G>A	17.37:g.40666417G>A	ENSP00000342951:p.Val787Met	NA	Q8N5G7|Q9NSX0	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701079	0.88924	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.57	4.57	0.56435	.	0.062472	0.64402	D	0.000005	D	0.94594	0.8258	H	0.95294	3.65	0.80722	D	1	D;D;D;D;D	0.89917	0.983;0.997;0.99;0.983;1.0	D;D;D;P;D	0.69307	0.922;0.95;0.922;0.869;0.963	D	0.95204	0.8319	10	0.72032	D	0.01	-23.0287	11.0728	0.48014	0.085:0.0:0.915:0.0	.	738;744;788;787;781	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	M	787;787;781;788;738;433	ENSP00000342951:V787M;ENSP00000444676:V787M;ENSP00000377415:V781M;ENSP00000264649:V788M;ENSP00000443991:V738M;ENSP00000446377:V433M	ENSP00000264649:V788M	V	+	1	0	ATP6V0A1	37919943	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.859000	0.86982	2.390000	0.81377	0.561000	0.74099	GTG	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450364.1		+	ENST00000343619.4	Missense_Mutation	SNP	17 : 40666417 - 40666417 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	611	5
BRD4	23476	broad.mit.edu	37	19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:15350213G>A	ENST00000263377.2	-	17	3787	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1189					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0									VAL/ALA	0,4406		0,0,2203	74	76	75		3566	4.7	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRD4	NM_058243.2	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1189/1363	15350213	1,13005	2203	4300	6503	SO:0001583	missense			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3566C>T	19.37:g.15350213G>A	ENSP00000263377:p.Ala1189Val	NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.617877	0.28801	0.0	1.16E-4	ENSG00000141867	ENST00000263377	T	0.17370	2.28	4.68	4.68	0.58851	.	0.000000	0.52532	D	0.000067	T	0.35307	0.0927	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05241	-1.0897	10	0.48119	T	0.1	-6.9197	16.3985	0.83631	0.0:0.0:1.0:0.0	.	1189	O60885	BRD4_HUMAN	V	1189	ENSP00000263377:A1189V	ENSP00000263377:A1189V	A	-	2	0	BRD4	15211213	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	7.340000	0.79292	2.115000	0.64714	0.550000	0.68814	GCG	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Missense_Mutation	SNP	19 : 15350213 - 15350213 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	615	8
C11orf82	0	broad.mit.edu	37	11	82645017	82645017	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G879G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN		879					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATATGCTTGGATTCCAAGGCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	11		NA											NA				82645017		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000533655.1:c.2637A>C	11.37:g.82645017A>C		NA	Q96LK6|Q9H856	37	CCDS8263.1																																																																																			C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391936.1		+	ENST00000533655.1	Silent	SNP	11 : 82645017 - 82645017 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	370	45
C4orf17	84103	broad.mit.edu	37	4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000514652.1	+	7	1154	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	267										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAATCAAAAGTGCTGACCAGA	0.458		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	4		NA											NA				100460491		2203	4300	6503	SO:0001583	missense			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813	84103	84103			25274	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032149	NM_032149	NA	Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000514652.1:c.800T>C	4.37:g.100460491T>C	ENSP00000427663:p.Val267Ala	NA	Q6FI84|Q6IS77|Q9H0D9	37		.	.	.	.	.	.	.	.	.	.	T	10.36	1.329614	0.24167	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18810	2.21;2.19	5.03	-0.46	0.12175	.	0.437967	0.19567	N	0.111193	T	0.13841	0.0335	L	0.39898	1.24	0.09310	N	1	B	0.20052	0.041	B	0.19666	0.026	T	0.29731	-1.0002	10	0.20519	T	0.43	-0.8055	7.9028	0.29744	0.0:0.5021:0.0:0.4979	.	267	Q53FE4	CD017_HUMAN	A	267	ENSP00000322582:V267A;ENSP00000427663:V267A	ENSP00000322582:V267A	V	+	2	0	C4orf17	100679514	0.140000	0.22579	0.068000	0.19968	0.002000	0.02628	0.035000	0.13797	0.052000	0.16007	-0.290000	0.09829	GTG	C4orf17-003	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000365190.1		+	ENST00000514652.1	Missense_Mutation	SNP	4 : 100460491 - 100460491 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	274	21
C5orf38	153571	broad.mit.edu	37	5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000397835.4	+	2	283	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000515640.1_Missense_Mutation_p.E95K|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	95						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAGTCACGTCGAGAACGGGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	64	62			NA	NA	5		NA											NA				2752818		2203	4300	6503	SO:0001583	missense			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493	153571	153571			24226	protein-coding gene	gene with protein product	coordinated expression to IRX2, IRX2 neighbor	610522			NA	16515847, 16750006	Standard	NM_178569	XM_005248256	NA	Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000397835.4:c.283G>A	5.37:g.2752818G>A	ENSP00000380935:p.Glu95Lys	NA		37		.	.	.	.	.	.	.	.	.	.	G	7.522	0.656835	0.14580	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.47	-4.95	0.03048	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	8	0.87932	D	0	.	1.2249	0.01932	0.4102:0.2803:0.1664:0.143	.	95	Q86SI9	CEI_HUMAN	K	95	.	ENSP00000334267:E95K	E	+	1	0	C5orf38	2805818	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.638000	0.00866	-1.913000	0.01079	0.313000	0.20887	GAG	C5orf38-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382780.3		+	ENST00000397835.4	Missense_Mutation	SNP	5 : 2752818 - 2752818 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	669	7
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000399655.1	+	26	3489	c.3224C>T	c.(3223-3225)aCg>aTg	p.T1075M	CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	66	65			NA	NA	12		NA											NA				2716164		2072	4233	6305	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.3224C>T	12.37:g.2716164C>T	ENSP00000382563:p.Thr1075Met	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.322899	0.41096	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96685	-4.02;-4.01;-4.05;-4.01;-4.04;-4.01;-4.03;-3.92;-3.97;-4.01;-3.96;-3.94;-4.01;-4.09;-3.96;-3.86;-4.08;-4.02;-4.01;-4.05;-3.96;-4.04;-4.08	4.86	4.86	0.63082	Ion transport (1);	0.202841	0.52532	D	0.000071	D	0.97099	0.9052	L	0.42529	1.33	0.38378	D	0.945041	D;P;B;D;P;P;B;B;B;B;B;B;B;P;P;B;B;P;B;B;P;P;B;B;B	0.89917	1.0;0.466;0.265;1.0;0.719;0.466;0.212;0.224;0.024;0.33;0.239;0.123;0.212;0.469;0.636;0.414;0.4;0.525;0.119;0.239;0.525;0.525;0.286;0.013;0.286	D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.91635	0.999;0.071;0.041;0.999;0.148;0.071;0.091;0.024;0.024;0.071;0.023;0.04;0.091;0.04;0.284;0.034;0.058;0.049;0.04;0.034;0.071;0.049;0.024;0.011;0.047	D	0.97646	1.0151	10	0.46703	T	0.11	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	1075;1072;1095;1075;1075;1075;1075;1075;1075;1095;1075;1046;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1100;1075;1075;1075;1075;1075;1075;1075;1075;1075;1095;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;916	ENSP00000336982:T1100M;ENSP00000382563:T1075M;ENSP00000437936:T1075M;ENSP00000382552:T1075M;ENSP00000382547:T1075M;ENSP00000382506:T1075M;ENSP00000382530:T1075M;ENSP00000382546:T1075M;ENSP00000382500:T1075M;ENSP00000382549:T1075M;ENSP00000266376:T1095M;ENSP00000382515:T1095M;ENSP00000382510:T1075M;ENSP00000341092:T1075M;ENSP00000382537:T1075M;ENSP00000329877:T1075M;ENSP00000382557:T1075M;ENSP00000385724:T1075M;ENSP00000382512:T1075M;ENSP00000382542:T1075M;ENSP00000382526:T1075M;ENSP00000385896:T1075M;ENSP00000382504:T1075M	ENSP00000323129:T916M	T	+	2	0	CACNA1C	2586425	0.139000	0.22563	0.995000	0.50966	0.979000	0.70002	1.089000	0.30890	2.687000	0.91594	0.651000	0.88453	ACG	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2716164 - 2716164 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	151	72
CCDC92	80212	broad.mit.edu	37	12	124428832	124428832	+	Silent	SNP	C	C	T	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000545891.1	-	2	206				CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000238156.3_Silent_p.S7S|CCDC92_ENST00000544798.1_5'UTR			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	NA										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498		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	88	86	87		21	-1.6	0	12	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC92	NM_025140.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		7/332	124428832	1,13005	2203	4300	6503	SO:0001627	intron_variant			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242	80212	80212			29563	protein-coding gene	gene with protein product	limkain beta 2				NA	12477932	Standard	NM_025140	NM_025140	NA	Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000545891.1:c.17-792G>A	12.37:g.124428832C>T		NA	Q9H697	37																																																																																				CCDC92-003	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400791.1		-	ENST00000545891.1	Intron	SNP	12 : 124428832 - 124428832 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	247	136
CELSR2	1952	broad.mit.edu	37	1	109795748	109795748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109795748G>A	ENST00000271332.3	+	1	3108	c.3047G>A	c.(3046-3048)cGc>cAc	p.R1016H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1016	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCTTGACCGCAATGACAAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0													82	79	80			NA	NA	1		NA											NA				109795748		2203	4300	6503	SO:0001583	missense			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3047G>A	1.37:g.109795748G>A	ENSP00000271332:p.Arg1016His	NA	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.76	2.632907	0.47049	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.92	4.92	0.64577	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.30386	0.0763	L	0.36672	1.1	0.35802	D	0.82319	P	0.51240	0.943	B	0.43194	0.411	T	0.38001	-0.9681	9	0.42905	T	0.14	.	4.3406	0.11108	0.1982:0.1982:0.6036:0.0	.	1016	Q9HCU4	CELR2_HUMAN	H	1016	ENSP00000271332:R1016H	ENSP00000271332:R1016H	R	+	2	0	CELSR2	109597271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.726000	0.38085	2.591000	0.87537	0.650000	0.86243	CGC	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109795748 - 109795748 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	398	5
CELSR3	1951	broad.mit.edu	37	3	48691126	48691126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:48691126C>T	ENST00000164024.4	-	9	5654	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1792T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1792	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGAAATGCCAGCCCCAGG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	3		NA											NA				48691126		2203	4300	6503	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5374G>A	3.37:g.48691126C>T	ENSP00000164024:p.Ala1792Thr	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848196	0.32699	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.78924	-1.22;-1.22	4.88	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.66982	0.2845	L	0.38531	1.155	0.44373	D	0.997272	B;B	0.27853	0.009;0.191	B;B	0.26770	0.027;0.073	T	0.60687	-0.7214	9	0.14252	T	0.57	.	14.1889	0.65625	0.1554:0.8446:0.0:0.0	.	1792;1862	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1792	ENSP00000164024:A1792T;ENSP00000445694:A1792T	ENSP00000164024:A1792T	A	-	1	0	CELSR3	48666130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.957000	0.49137	1.216000	0.43427	0.655000	0.94253	GCA	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48691126 - 48691126 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	451	5
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	133	133			NA	NA	5		NA											NA				633946		2203	4300	6503	SO:0001583	missense			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877	55722	55722			25547	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_018140	NM_018140	NA	Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.575C>T	5.37:g.633946C>T	ENSP00000264935:p.Ala192Val	NA	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365967.3		+	ENST00000264935.5	Missense_Mutation	SNP	5 : 633946 - 633946 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1025	7
CEP89	84902	broad.mit.edu	37	19	33392297	33392297	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:33392297C>G	ENST00000305768.5	-	15	1675	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCCTTTCTTTCTCTTCTTCCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	157	160			NA	NA	19		NA											NA				33392297		2203	4300	6503	SO:0001583	missense			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289	84902	84902			25907	protein-coding gene	gene with protein product		615470	coiled-coil domain containing 123	CCDC123	NA	16395595	Standard	NM_032816	NM_032816	NA	Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1587G>C	19.37:g.33392297C>G	ENSP00000306105:p.Glu529Asp	NA	B9EGA6|Q8N5J8	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746788	0.30955	.	.	ENSG00000121289	ENST00000305768	D	0.88201	-2.35	5.15	1.77	0.24775	.	0.307216	0.40818	N	0.001010	D	0.87557	0.6207	M	0.65320	2	0.80722	D	1	P	0.46912	0.886	P	0.50659	0.647	T	0.83103	-0.0127	10	0.40728	T	0.16	-13.6893	4.3698	0.11242	0.1501:0.519:0.0:0.3309	.	529	Q96ST8	CEP89_HUMAN	D	529	ENSP00000306105:E529D	ENSP00000306105:E529D	E	-	3	2	CEP89	38084137	1.000000	0.71417	0.676000	0.29932	0.217000	0.24651	0.618000	0.24373	0.622000	0.30249	-0.142000	0.14014	GAG	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451300.2		-	ENST00000305768.5	Missense_Mutation	SNP	19 : 33392297 - 33392297 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	653	5
CLDN9	9080	broad.mit.edu	37	16	3063749	3063749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:3063749G>A	ENST00000445369.2	+	1	1293	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	129					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCCTCGCCGGCATCCTGGTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	87	88			NA	NA	16		NA											NA				3063749		2198	4300	6498	SO:0001583	missense			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937	9080	9080		Claudins	2051	protein-coding gene	gene with protein product		615799			NA	9441748, 18234789	Standard	NM_020982	NM_020982	NA	Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.386G>A	16.37:g.3063749G>A	ENSP00000398017:p.Gly129Asp	NA		37	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568874	0.45798	.	.	ENSG00000213937	ENST00000445369	D	0.90324	-2.65	4.85	2.9	0.33743	.	0.137049	0.47093	N	0.000253	D	0.95661	0.8589	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94689	0.7872	10	0.87932	D	0	.	8.8758	0.35345	0.1824:0.0:0.8176:0.0	.	129	O95484	CLD9_HUMAN	D	129	ENSP00000398017:G129D	ENSP00000398017:G129D	G	+	2	0	CLDN9	3003750	1.000000	0.71417	0.123000	0.21794	0.926000	0.56050	4.067000	0.57527	0.633000	0.30452	0.563000	0.77884	GGC	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250989.1		+	ENST00000445369.2	Missense_Mutation	SNP	16 : 3063749 - 3063749 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	853	6
COL20A1	57642	broad.mit.edu	37	20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000422202.1	+	2	225	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	53	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGGGGAGCGGCCTCGGCTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	52	48			NA	NA	20		NA											NA				61929336		2031	4164	6195	SO:0001583	missense			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203	57642	57642		Collagens, Fibronectin type III domain containing	14670	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020882	NM_020882	NA	Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000422202.1:c.157G>A	20.37:g.61929336G>A	ENSP00000414753:p.Gly53Ser	NA	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	37		.	.	.	.	.	.	.	.	.	.	G	2.312	-0.357702	0.05138	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	3.95	-1.67	0.08238	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.543240	0.18383	N	0.142918	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.15484	0.013	T	0.17137	-1.0379	10	0.21014	T	0.42	.	8.946	0.35758	0.8054:0.0:0.1946:0.0	.	53	Q9P218	COKA1_HUMAN	S	53	ENSP00000351767:G53S;ENSP00000323077:G53S;ENSP00000408690:G53S;ENSP00000414753:G53S	ENSP00000323077:G53S	G	+	1	0	COL20A1	61399781	0.000000	0.05858	0.057000	0.19452	0.005000	0.04900	0.036000	0.13819	-0.160000	0.11002	-0.229000	0.12294	GGC	COL20A1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000080130.4		+	ENST00000422202.1	Missense_Mutation	SNP	20 : 61929336 - 61929336 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	294	7
COL23A1	91522	broad.mit.edu	37	5	177688748	177688748	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.677G>T	c.(676-678)gGc>gTc	p.G226V	COL23A1_ENST00000407622.1_Splice_Site_p.G190V	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	226	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCTTTGGGCCCTGGAACAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	60			NA	NA	5		NA											NA				177688748		1913	4113	6026	SO:0001630	splice_region_variant			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767	91522	91522		Collagens	22990	protein-coding gene	gene with protein product		610043			NA	12644459	Standard	NM_173465	NM_173465	NA	Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.676-1G>T	5.37:g.177688748C>A		NA	Q8IVR4|Q9NT93	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606433	0.46527	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.99637	-6.29;-6.29	5.29	5.29	0.74685	.	0.150367	0.42548	D	0.000684	D	0.99802	0.9915	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96894	0.9655	10	0.87932	D	0	-8.2243	14.438	0.67296	0.0:1.0:0.0:0.0	.	226	Q86Y22	CONA1_HUMAN	V	226;190	ENSP00000375069:G226V;ENSP00000385092:G190V	ENSP00000375069:G226V	G	-	2	0	COL23A1	177621354	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	3.891000	0.56227	2.469000	0.83416	0.491000	0.48974	GGC	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253475.1	Missense_Mutation	-	ENST00000390654.3	Splice_Site	SNP	5 : 177688748 - 177688748 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	445	167
CYP11B1	1584	broad.mit.edu	37	8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	rs34620645	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000377675.3	-	6	962	c.956C>T	c.(955-957)aCc>aTc	p.T319I	CYP11B1_ENST00000292427.4_Missense_Mutation_p.T248I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	248			T -> M (in AH4; non-classic).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGGCTGGTCCAGCGAGA	0.602		NA							Familial Hyperaldosteronism type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	47	48			NA	NA	8		NA											NA				143958154		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	NA	1584	1.14.15.4	Cytochrome P450s	2591	protein-coding gene	gene with protein product	steroid 11-beta-monooxygenase	610613	cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1	CYP11B	NA	1303253	Standard		XM_005250807	NA	Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000377675.3:c.956C>T	8.37:g.143958154G>A	ENSP00000366903:p.Thr319Ile	NA	Q14095|Q4VAQ8|Q9UML2	37		.	.	.	.	.	.	.	.	.	.	.	0.042	-1.281373	0.01398	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.66815	-0.23;-0.23;-0.23	3.64	0.81	0.18732	.	1.139050	0.06616	N	0.756477	T	0.44644	0.1303	N	0.17312	0.475	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.17979	0.006;0.013;0.02	T	0.28744	-1.0034	10	0.02654	T	1	.	7.2978	0.26403	0.3297:0.0:0.6703:0.0	rs34620645	319;248;248	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	248;248;319	ENSP00000292427:T248I;ENSP00000428043:T248I;ENSP00000366903:T319I	ENSP00000292427:T248I	T	-	2	0	CYP11B1	143955156	0.000000	0.05858	0.320000	0.25306	0.198000	0.23893	0.272000	0.18644	0.339000	0.23719	-0.226000	0.12346	ACC	CYP11B1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379655.1		-	ENST00000377675.3	Missense_Mutation	SNP	8 : 143958154 - 143958154 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	162	8
DYRK1A	1859	broad.mit.edu	37	21	38877757	38877757	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:38877757T>A	ENST00000339659.4	+	9	2854	c.1384T>A	c.(1384-1386)Tat>Aat	p.Y462N	DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	NA	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AATTCAACCTTATTATGCTCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(114;464 1602 31203 43785 45765)							NA				0													111	111	111			NA	NA	21		NA											NA				38877757		2203	4300	6503	SO:0001583	missense			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540	1859	1859			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH	NA	9284911	Standard	NM_001396	NM_130436	NA	Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000339659.4:c.1384T>A	21.37:g.38877757T>A	ENSP00000340373:p.Tyr462Asn	NA	O60769|Q92582|Q92810|Q9UNM5	37	CCDS13653.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024460	0.54683	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120768	0.64402	D	0.000014	T	0.42899	0.1223	N	0.02685	-0.53	0.80722	D	1	B;B;B;B;B	0.26845	0.005;0.005;0.161;0.133;0.005	B;B;B;B;B	0.30179	0.035;0.035;0.112;0.068;0.035	T	0.49163	-0.8968	10	0.66056	D	0.02	.	16.1946	0.82018	0.0:0.0:0.0:1.0	.	471;471;471;462;471	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	471;462;471;471;471;471;243	ENSP00000342690:Y471N;ENSP00000340373:Y462N;ENSP00000319032:Y471N;ENSP00000416089:Y471N;ENSP00000381932:Y471N;ENSP00000381929:Y471N;ENSP00000407854:Y243N	ENSP00000319032:Y471N	Y	+	1	0	DYRK1A	37799627	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.977000	0.88081	2.228000	0.72767	0.528000	0.53228	TAT	DYRK1A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194801.2		+	ENST00000339659.4	Missense_Mutation	SNP	21 : 38877757 - 38877757 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	417	5
EBNA1BP2	10969	broad.mit.edu	37	1	43636461	43636461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:43636461G>A	ENST00000236051.2	-	4	554	c.413C>T	c.(412-414)gCg>gTg	p.A138V	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A193V	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	138					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCATTTCCGCAAAATAATC	0.473		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													164	162	162			NA	NA	1		NA											NA				43636461		2203	4300	6503	SO:0001583	missense			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395	10969	10969			15531	protein-coding gene	gene with protein product		614443	EBNA1-binding protein 2		NA	10074103, 11438656	Standard		NM_001159936	NA	Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.413C>T	1.37:g.43636461G>A	ENSP00000236051:p.Ala138Val	NA	Q96A66	37	CCDS478.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.636393	0.96693	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.73575	-0.76;-0.76	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92638	0.6122	10	0.87932	D	0	-12.5207	19.6961	0.96026	0.0:0.0:1.0:0.0	.	138;138	Q6IB29;Q99848	.;EBP2_HUMAN	V	193;138	ENSP00000407323:A193V;ENSP00000236051:A138V	ENSP00000236051:A138V	A	-	2	0	EBNA1BP2	43409048	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.271000	0.95698	2.745000	0.94114	0.650000	0.86243	GCG	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019015.1		-	ENST00000236051.2	Missense_Mutation	SNP	1 : 43636461 - 43636461 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	825	6
ELN	2006	broad.mit.edu	37	7	73474307	73474307	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474307C>T	ENST00000252034.7	+	23	1905	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G	ELN_ENST00000458204.1_Silent_p.G492G|ELN_ENST00000380553.4_Silent_p.G366G|ELN_ENST00000320399.6_Silent_p.G502G|ELN_ENST00000380575.4_Silent_p.G473G|ELN_ENST00000380562.4_Silent_p.G508G|ELN_ENST00000358929.4_Silent_p.G537G|ELN_ENST00000357036.5_Silent_p.G507G|ELN_ENST00000380576.5_Silent_p.G483G|ELN_ENST00000320492.7_Silent_p.G421G|ELN_ENST00000380584.4_Silent_p.G469G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Silent_p.G502G|ELN_ENST00000429192.1_Silent_p.G488G|ELN_ENST00000414324.1_Silent_p.G478G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	531	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGAGTTGGCGTGGCTCCTG	0.622		NA	T	PAX5	B-ALL		Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q11.23	2006	elastin	yes	L	0													174	159	164			NA	NA	7		NA											NA				73474307		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540	2006	2006			3327	protein-coding gene	gene with protein product	tropoelastin, supravalvular aortic stenosis, Williams-Beuren syndrome	130160			NA	8096434	Standard	NM_000501	NM_001278939	NA	Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1506C>T	7.37:g.73474307C>T		NA	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	37	CCDS5562.2																																																																																			ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316913.1		+	ENST00000252034.7	Silent	SNP	7 : 73474307 - 73474307 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	924	134
ERCC4	2072	broad.mit.edu	37	16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	65					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCTCAACACGCAGCCGGCCGA	0.697		NA	Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0													10	11	10			NA	NA	16		NA											NA				14014215		2174	4277	6451	SO:0001587	stop_gained	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595	2072	2072			3436	protein-coding gene	gene with protein product	xeroderma pigmentosum, complementation group F	133520	excision repair cross-complementing rodent repair deficiency, complementation group 4	XPF	NA	9579555, 8887684	Standard	NM_005236	NM_005236	NA	Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.193C>T	16.37:g.14014215C>T	ENSP00000310520:p.Gln65*	NA	A8K111|O00140|Q8TD83	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	37	6.363938	0.97507	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	.	.	.	4.98	4.98	0.66077	.	0.436137	0.26696	N	0.022966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.2254	11.0818	0.48064	0.2766:0.7234:0.0:0.0	.	.	.	.	X	65;54;54	.	ENSP00000310520:Q65X	Q	+	1	0	ERCC4	13921716	0.976000	0.34144	1.000000	0.80357	0.937000	0.57800	3.363000	0.52321	2.741000	0.93983	0.655000	0.94253	CAG	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109634.2		+	ENST00000311895.7	Nonsense_Mutation	SNP	16 : 14014215 - 14014215 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	85	40
ERCC6L2	375748	broad.mit.edu	37	9	98678110	98678110	+	Splice_Site	SNP	T	T	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:98678110T>A	ENST00000288985.7	+	5	1287	c.982T>A	c.(982-984)Tgg>Agg	p.W328R	ERCC6L2_ENST00000437817.1_Splice_Site_p.W139R|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementation group 6-like 2	328	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				NA						TGTTATGGACTGGTGAGAGAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	9		NA											NA				98678110		2203	4300	6503	SO:0001630	splice_region_variant			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150	375748	375748			26922	protein-coding gene	gene with protein product		615667	chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	C9orf102	NA		Standard	NM_001010895	NM_001010895	NA	Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.983+1T>A	9.37:g.98678110T>A		NA	B2RTP8|Q49AM9|Q5T892|Q9NPM7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529846	0.85706	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	D;D	0.92805	-3.11;-3.11	6.06	6.06	0.98353	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.51477	D	0.000087	D	0.96756	0.8941	M	0.89840	3.065	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.997	P;D;D	0.72075	0.832;0.976;0.962	D	0.97414	1.0004	10	0.87932	D	0	-8.9372	16.6093	0.84858	0.0:0.0:0.0:1.0	.	139;10;328	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	R	10;328;139	ENSP00000288985:W328R;ENSP00000416286:W139R	ENSP00000288985:W328R	W	+	1	0	C9orf102	97717931	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.524000	0.67105	2.324000	0.78689	0.533000	0.62120	TGG	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053247.2	Missense_Mutation	+	ENST00000288985.7	Splice_Site	SNP	9 : 98678110 - 98678110 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	250	97
FAM47A	158724	broad.mit.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(1)|kidney(1)											91	86	88			NA	NA	X		NA											NA				34150174		2202	4300	6502	SO:0001819	synonymous_variant			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448	158724	158724			29962	protein-coding gene	gene with protein product	similar to hypothetical protein FLJ35782				NA	12477932	Standard	NM_203408	NM_203408	NA	Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.222C>T	X.37:g.34150174G>A		NA	A8K8I9|Q8TAA0	37	CCDS43926.1																																																																																			FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056205.1		-	ENST00000346193.3	Silent	SNP	X : 34150174 - 34150174 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	112	256
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											412	337	362			NA	NA	1		NA											NA				152327955		2203	4300	6503	SO:0001819	synonymous_variant			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		NA	Q9H4U1	37	CCDS30861.1																																																																																			FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Silent	SNP	1 : 152327955 - 152327955 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1407	9
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	102	92			NA	NA	9		NA											NA				117757		2179	4281	6460	SO:0001819	synonymous_variant			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122	2298	2298		Forkhead boxes	3805	protein-coding gene	gene with protein product		601092		FKHL9	NA	7957066, 8825632, 12234674	Standard	NM_207305	NM_207305	NA	Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.363G>A	9.37:g.117757C>T		NA	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	37	CCDS34975.1																																																																																			FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055433.1		-	ENST00000382500.2	Silent	SNP	9 : 117757 - 117757 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	587	6
FXYD6	53826	broad.mit.edu	37	11	117711040	117711040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117711040C>T	ENST00000526014.1	-	6	848	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000529335.2_Intron|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6	NA										central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTACCATTGGCGGTGATGAGG	0.597		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0													107	90	96			NA	NA	11		NA											NA				117711040		2201	4296	6497	SO:0001583	missense			BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726	53826	53826			4030	protein-coding gene	gene with protein product	phosphohippolin	606683	FXYD domain-containing ion transport regulator 6		NA	10950925	Standard	NM_022003	NM_022003	NA	Approved			Q9H0Q3		ENST00000526014.1:c.253G>A	11.37:g.117711040C>T	ENSP00000433312:p.Ala85Thr	NA		37	CCDS8387.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.60	2.285401	0.40394	.	.	ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.44	1.5	0.22942	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.20703	N	0.999866	B;B	0.17852	0.024;0.005	B;B	0.11329	0.006;0.002	T	0.23868	-1.0176	8	0.31617	T	0.26	.	4.0755	0.09902	0.4491:0.3991:0.0:0.1519	.	85;85	E9PJ02;Q9H0Q3	.;FXYD6_HUMAN	T	85	ENSP00000444243:A85T;ENSP00000442756:A85T;ENSP00000260282:A85T;ENSP00000431446:A85T;ENSP00000433312:A85T;ENSP00000431427:A85T	ENSP00000260282:A85T	A	-	1	0	FXYD6	117216250	0.774000	0.28592	0.493000	0.27502	0.921000	0.55340	0.837000	0.27558	0.394000	0.25230	0.655000	0.94253	GCC	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392307.1		-	ENST00000526014.1	Missense_Mutation	SNP	11 : 117711040 - 117711040 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	466	5
GATA3	2625	broad.mit.edu	37	10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000379328.3	+	3	1258	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S230R	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	230					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGAGTACAGCTCCGGACTCT	0.697		NA	F, N, S		breast		HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													45	44	45			NA	NA	10		NA											NA				8100716		2203	4299	6502	SO:0001583	missense			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485	2625	2625		GATA zinc finger domain containing	4172	protein-coding gene	gene with protein product		131320	GATA-binding protein 3		NA	2050118, 15087456	Standard	NM_001002295	NM_002051	NA	Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000379328.3:c.690C>A	10.37:g.8100716C>A	ENSP00000368632:p.Ser230Arg	NA	Q5VWG7|Q5VWG8|Q96J16	37	CCDS31143.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846693	0.51164	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96459	-4.02;-4.0	5.55	5.55	0.83447	.	0.098818	0.64402	D	0.000001	D	0.94647	0.8274	L	0.50333	1.59	0.42485	D	0.99287	P;B	0.43826	0.818;0.317	B;B	0.39299	0.296;0.124	D	0.94291	0.7528	10	0.39692	T	0.17	-19.3456	19.5043	0.95108	0.0:1.0:0.0:0.0	.	230;230	P23771;P23771-2	GATA3_HUMAN;.	R	230	ENSP00000368632:S230R;ENSP00000341619:S230R	ENSP00000341619:S230R	S	+	3	2	GATA3	8140722	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.873000	0.56093	2.607000	0.88179	0.561000	0.74099	AGC	GATA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046718.1		+	ENST00000379328.3	Missense_Mutation	SNP	10 : 8100716 - 8100716 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	378	86
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000376730.4	+	4	1266	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000444201.2_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000442371.1_Silent_p.V261V	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	83	90			NA	NA	9		NA											NA				79118080		2203	4300	6503	SO:0001819	synonymous_variant			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2650	2650	2.4.1.102	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	4203	protein-coding gene	gene with protein product	core 2 beta1,6 N-acetylglucosaminyltransferase-I, beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase	600391	glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)	NACGT2	NA	8449405, 9915862	Standard	NM_001097634	NM_001490	NA	Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.783C>T	9.37:g.79118080C>T		NA	Q6DJZ4	37	CCDS6653.1																																																																																			GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052725.1		+	ENST00000376730.4	Silent	SNP	9 : 79118080 - 79118080 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	461	133
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:650531G>A	ENST00000437269.1	-	3	530				GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	NA					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	95	92			NA	NA	17		NA											NA				650531		2176	4267	6443	SO:0001627	intron_variant			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409	50628	50628			15717	protein-coding gene	gene with protein product	HCC-associated protein 1, component of gems 4	606969			NA	10725331	Standard	NM_015721	NM_015721	NA	Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000437269.1:c.499-9C>T	17.37:g.650531G>A		NA	Q9NZS7|Q9UG32|Q9Y4Q2	37		.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG	GEMIN4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437183.1		-	ENST00000437269.1	Intron	SNP	17 : 650531 - 650531 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	551	5
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	236					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	4		NA											NA				80328648		2203	4300	6503	SO:0001583	missense			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475	2712	2712		Glycerol kinases	4291	protein-coding gene	gene with protein product		600148	glycerol kinase pseudogene 2	GKP2	NA	7987308	Standard	NM_033214	NM_033214	NA	Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.707C>G	4.37:g.80328648G>C	ENSP00000351706:p.Ser236Cys	NA	A8K876|Q6PD73|Q86XV8	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	5.559	0.287923	0.10513	.	.	ENSG00000196475	ENST00000358842	T	0.58060	0.36	4.57	2.8	0.32819	Carbohydrate kinase, FGGY, N-terminal (1);	0.115441	0.64402	N	0.000010	T	0.53206	0.1782	M	0.71581	2.175	0.58432	D	0.999998	B	0.31290	0.318	B	0.34093	0.175	T	0.57860	-0.7738	10	0.72032	D	0.01	-10.4064	13.132	0.59389	0.0:0.3081:0.6919:0.0	.	236	Q14410	GLPK2_HUMAN	C	236	ENSP00000351706:S236C	ENSP00000351706:S236C	S	-	2	0	GK2	80547672	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	3.061000	0.49963	0.612000	0.30071	-0.203000	0.12734	TCT	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252517.2		-	ENST00000358842.3	Missense_Mutation	SNP	4 : 80328648 - 80328648 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	387	30
GNPDA2	132789	broad.mit.edu	37	4	44724119	44724120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:44724119_44724120insA	ENST00000507917.1	-	2	236_237	c.105_106insT	c.(103-108)tttacafs	p.T36fs	GNPDA2_ENST00000509756.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000295448.3_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000511187.1_Intron	NM_001270880.1	NP_001257809.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	36					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AAACCCAGTGTAAAATATCTGT	0.332		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(54;743 1010 7604 16453 19544)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	132789	132789	3.5.99.6		21526	protein-coding gene	gene with protein product	glucosamine-6-phosphate isomerase	613222			NA	12965206	Standard	NM_138335	NM_001270880	NA	Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000507917.1:c.106dupT	4.37:g.44724123_44724123dupA	ENSP00000425868:p.Thr36fs	NA	Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	37	CCDS59473.1																																																																																			GNPDA2-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360776.2		-	ENST00000507917.1	Frame_Shift_Ins	INS	4 : 44724119 - 44724120 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	198	106
GOLGA3	2802	broad.mit.edu	37	12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000450791.2	-	12	2747	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S			Q08378	GOGA3_HUMAN	golgin A3	855					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCGCCGGTAGGCCTCCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	25	26			NA	NA	12		NA											NA				133365860		2203	4300	6503	SO:0001583	missense			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615	2802	2802			4426	protein-coding gene	gene with protein product	SY2/SY10 protein, Golgi complex-associated protein of 170 kD	602581	golgi autoantigen, golgin subfamily a, 3		NA	8315394, 15829563	Standard	NM_005895	NM_001172557	NA	Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2564A>C	12.37:g.133365860T>G	ENSP00000410378:p.Tyr855Ser	NA	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636969	0.87760	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.37058	1.68;1.68;1.69;1.22;1.22	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57957	-0.7721	10	0.29301	T	0.29	.	15.4572	0.75325	0.0:0.0:0.0:1.0	.	855;855;855	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	855	ENSP00000204726:Y855S;ENSP00000410378:Y855S;ENSP00000409303:Y855S;ENSP00000442143:Y855S;ENSP00000442603:Y855S	ENSP00000204726:Y855S	Y	-	2	0	GOLGA3	131875933	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	7.959000	0.87885	2.064000	0.61679	0.460000	0.39030	TAC	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397569.2		-	ENST00000450791.2	Missense_Mutation	SNP	12 : 133365860 - 133365860 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	210	8
GPC5	2262	broad.mit.edu	37	13	92380846	92380846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:92380846G>T	ENST00000377067.3	+	4	1453	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	361						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGTTCTTTTGATCAGAGCAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	130	128			NA	NA	13		NA											NA				92380846		2203	4300	6503	SO:0001583	missense			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399	2262	2262		Proteoglycans / Cell Surface : Glypicans	4453	protein-coding gene	gene with protein product	glypican proteoglycan 5	602446			NA	9070915, 20304703, 19556317, 15057823	Standard	NM_004466	NM_004466	NA	Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1081G>T	13.37:g.92380846G>T	ENSP00000366267:p.Asp361Tyr	NA	B2R726|O60436|Q9BX27	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682939	0.68157	.	.	ENSG00000179399	ENST00000377067	T	0.55234	0.53	5.88	5.04	0.67666	.	0.478094	0.24502	N	0.037975	T	0.64091	0.2567	M	0.72894	2.215	0.37269	D	0.907309	P	0.44877	0.845	P	0.52514	0.701	T	0.72221	-0.4356	10	0.72032	D	0.01	2.7075	12.1984	0.54311	0.0779:0.0:0.9221:0.0	.	361	P78333	GPC5_HUMAN	Y	361	ENSP00000366267:D361Y	ENSP00000366267:D361Y	D	+	1	0	GPC5	91178847	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	3.232000	0.51302	1.499000	0.48617	0.557000	0.71058	GAT	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045454.1		+	ENST00000377067.3	Missense_Mutation	SNP	13 : 92380846 - 92380846 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	508	5
GRM1	2911	broad.mit.edu	37	6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000282753.1	+	8	3308	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000361719.2_Missense_Mutation_p.P1025A|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1025	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCAACCCCCTCCACAGCAGAA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	58	55			NA	NA	6		NA											NA				146755420		2202	4299	6501	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3073C>G	6.37:g.146755420C>G	ENSP00000282753:p.Pro1025Ala	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	5.758	0.324185	0.10900	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87179	-2.22;-2.22	2.79	0.452	0.16634	.	1.033610	0.07658	N	0.933160	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43861	-0.9365	10	0.05833	T	0.94	.	3.4837	0.07611	0.0:0.5533:0.2518:0.1949	.	1025	Q13255	GRM1_HUMAN	A	1025	ENSP00000354896:P1025A;ENSP00000282753:P1025A	ENSP00000282753:P1025A	P	+	1	0	GRM1	146797113	0.010000	0.17322	0.052000	0.19188	0.885000	0.51271	2.510000	0.45468	0.066000	0.16515	0.306000	0.20318	CCA	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042574.1		+	ENST00000282753.1	Missense_Mutation	SNP	6 : 146755420 - 146755420 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	524	133
HDAC9	9734	broad.mit.edu	37	7	18668998	18668998	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000524023.1	+	6	761				HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Silent_p.R227R|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000456174.2_Silent_p.R199R	NM_001204147.1	NP_001191076.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	NA					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGGTGCGGTCCAGGTTAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	51	52			NA	NA	7		NA											NA				18668998		1895	4113	6008	SO:0001627	intron_variant			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000524023.1:c.557-5252G>A	7.37:g.18668998G>A		NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS56468.1																																																																																			HDAC9-022	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376089.1		+	ENST00000524023.1	Intron	SNP	7 : 18668998 - 18668998 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	66	33
HIPK4	147746	broad.mit.edu	37	19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40886552G>A	ENST00000291823.2	-	3	1630	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTCGGAGACCGCATTGGTGCA	0.632		NA											g	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	3e-04	SNP								NA				0													86	90	89			NA	NA	19		NA											NA				40886552		2203	4300	6503	SO:0001583	missense			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396	147746	147746			19007	protein-coding gene	gene with protein product		611712			NA		Standard	NM_144685	NM_144685	NA	Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1346C>T	19.37:g.40886552G>A	ENSP00000291823:p.Ala449Val	NA	A8K863|Q96M54	37	CCDS12555.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.004	-2.287071	0.00248	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.66099	-0.19	4.84	-4.35	0.03656	.	1.367440	0.05006	N	0.470122	T	0.31136	0.0787	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	7.7812	0.29066	0.217:0.3469:0.4361:0.0	.	449	Q8NE63	HIPK4_HUMAN	V	449;414	ENSP00000291823:A449V	ENSP00000291823:A449V	A	-	2	0	HIPK4	45578392	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.930000	0.03972	-0.596000	0.05821	-0.598000	0.04106	GCG	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462593.1		-	ENST00000291823.2	Missense_Mutation	SNP	19 : 40886552 - 40886552 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	839	6
HIST1H2AC	8334	broad.mit.edu	37	6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	114					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAACATCCAGGCCGTGCTTCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	6		NA											NA				26124800		2203	4300	6503	SO:0001583	missense			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573	8334	8334		Histones / Replication-dependent	4733	protein-coding gene	gene with protein product		602794	H2A histone family, member L, histone 1, H2ac	H2AFL	NA	9119399, 12408966	Standard	NM_003512	NM_003512	NA	Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.340G>T	6.37:g.26124800G>T	ENSP00000473534:p.Ala114Ser	NA	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	37	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.385900	0.42308	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.40756	1.02;1.02	5.5	5.5	0.81552	Histone-fold (2);Histone H2A (2);	0.000000	0.44285	D	0.000478	T	0.20047	0.0482	L	0.31845	0.965	0.41553	D	0.988589	B	0.10296	0.003	B	0.12156	0.007	T	0.02728	-1.1118	10	0.37606	T	0.19	.	13.6874	0.62524	0.0:0.0:0.8458:0.1542	.	114	Q93077	H2A1C_HUMAN	S	114	ENSP00000367022:A114S;ENSP00000321389:A114S	ENSP00000321389:A114S	A	+	1	0	HIST1H2AC	26232779	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.712000	0.84684	2.750000	0.94351	0.467000	0.42956	GCC	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000468023.1		+	ENST00000602637.1	Missense_Mutation	SNP	6 : 26124800 - 26124800 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	299	28
HMCN1	83872	broad.mit.edu	37	1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	367					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGAGTATCTCAGGAAGTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	1		NA											NA				185892601		2203	4300	6503	SO:0001583	missense			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1101C>G	1.37:g.185892601C>G	ENSP00000271588:p.Ile367Met	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318610	0.60524	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64438	-0.1;-0.1	5.4	3.43	0.39272	.	0.260319	0.43579	D	0.000544	T	0.53753	0.1816	L	0.47716	1.5	0.33535	D	0.594146	P	0.43169	0.8	B	0.42462	0.388	T	0.61850	-0.6978	10	0.34782	T	0.22	.	8.7355	0.34525	0.2826:0.6415:0.0:0.0759	.	367	Q96RW7	HMCN1_HUMAN	M	367	ENSP00000271588:I367M;ENSP00000356462:I367M	ENSP00000271588:I367M	I	+	3	3	HMCN1	184159224	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.005000	0.49521	0.558000	0.29135	0.655000	0.94253	ATC	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 185892601 - 185892601 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	212	7
IL21R	50615	broad.mit.edu	37	16	27448836	27448836	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	60					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGAAGGACGAGGCCACCT	0.597		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0								C	,,	1,4393	2.1+/-5.4	0,1,2196	100	79	86		180,180,246	-9.3	0	16		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	,,	0,1,6496	TT,TC,CC	NA	0.0,0.0228,0.0077	,,	60/539,60/539,82/561	27448836	1,12993	2197	4300	6497	SO:0001819	synonymous_variant			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522	50615	50615		Interleukins and interleukin receptors, CD molecules	6006	protein-coding gene	gene with protein product		605383			NA	11081504	Standard	NM_181078	NM_181078	NA	Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.180C>T	16.37:g.27448836C>T		NA	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	37	CCDS10630.1																																																																																			IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254578.2		+	ENST00000337929.3	Silent	SNP	16 : 27448836 - 27448836 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	392	9
KCNA3	3738	broad.mit.edu	37	1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	215						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTGGAAGTCGCGGCGGGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	44	41			NA	NA	1		NA											NA				111216789		2200	4283	6483	SO:0001583	missense			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272	3738	3738		Potassium channels, Voltage-gated ion channels / Potassium channels	6221	protein-coding gene	gene with protein product		176263			NA	2251283, 16382104	Standard	NM_002232	NM_002232	NA	Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.643G>A	1.37:g.111216789C>T	ENSP00000358784:p.Asp215Asn	NA	Q5VWN2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180330	0.57800	.	.	ENSG00000177272	ENST00000369769	D	0.96830	-4.14	4.8	3.87	0.44632	.	0.844686	0.10366	U	0.683427	D	0.89332	0.6685	L	0.28192	0.835	0.41461	D	0.988045	P	0.34699	0.464	B	0.28849	0.095	D	0.85442	0.1155	10	0.87932	D	0	.	14.8698	0.70448	0.0:0.8552:0.1448:0.0	.	215	P22001	KCNA3_HUMAN	N	215	ENSP00000358784:D215N	ENSP00000358784:D215N	D	-	1	0	KCNA3	111018312	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.873000	0.63057	0.986000	0.38683	0.561000	0.74099	GAC	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083391.1		-	ENST00000369769.2	Missense_Mutation	SNP	1 : 111216789 - 111216789 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	482	14
KDM5B	10765	broad.mit.edu	37	1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1212					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTCGCAGGCCCTGTGAAATA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	53	53			NA	NA	1		NA											NA				202702804		2203	4300	6503	SO:0001583	missense			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3634G>T	1.37:g.202702804C>A	ENSP00000356234:p.Gly1212Cys	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391676	0.62066	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.88046	-2.33;-2.33;-2.33	6.09	4.15	0.48705	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.449783	0.28871	N	0.013866	D	0.91036	0.7180	M	0.91140	3.18	0.33999	D	0.650031	P;P	0.49696	0.927;0.814	P;P	0.49276	0.605;0.563	D	0.93343	0.6711	10	0.56958	D	0.05	-5.713	9.9016	0.41351	0.0:0.8245:0.0:0.1755	.	1248;1212	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	1212;1054;1248;1054	ENSP00000356234:G1212C;ENSP00000356233:G1248C;ENSP00000235790:G1054C	ENSP00000235790:G1054C	G	-	1	0	KDM5B	200969427	0.432000	0.25554	0.011000	0.14972	0.797000	0.45037	0.847000	0.27696	0.798000	0.33994	0.643000	0.83706	GGC	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Missense_Mutation	SNP	1 : 202702804 - 202702804 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	286	138
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000315264.7	+	11	3602	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	22	21			NA	NA	14		NA											NA				104642766		1956	4126	6082	SO:0001583	missense			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735	26153	26153		Kinesins	20226	protein-coding gene	gene with protein product		613231			NA	10574462, 11416179	Standard		NM_015656	NA	Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000315264.7:c.3224C>T	14.37:g.104642766C>T	ENSP00000325452:p.Pro1075Leu	NA	Q8TAZ7|Q96GK3|Q9UFL3	37		.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580981	0.00879	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76448	-1.02;-1.02	3.6	0.264	0.15607	.	.	.	.	.	T	0.68146	0.2969	M	0.64404	1.975	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.51601	-0.8685	9	0.21540	T	0.41	.	4.6768	0.12715	0.2952:0.5102:0.0:0.1946	.	1214	Q9ULI4	KI26A_HUMAN	L	1214;1075	ENSP00000388241:P1214L;ENSP00000325452:P1075L	ENSP00000325452:P1075L	P	+	2	0	KIF26A	103712519	0.002000	0.14202	0.002000	0.10522	0.106000	0.19336	0.517000	0.22832	0.199000	0.20427	-1.026000	0.02426	CCG	KIF26A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000337893.2		+	ENST00000315264.7	Missense_Mutation	SNP	14 : 104642766 - 104642766 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	174	59
KMT2D	8085	broad.mit.edu	37	12	49427251	49427265	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-	-	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	ENST00000301067.7	-	39	11222_11236	c.11223_11237delACAGCAGCAGCAGCA	c.(11221-11238)caacagcagcagcagcac>cac	p.QQQQQ3741del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA								p.Q3475*(1)|p.Q3745*(1)			NA						TCCTAGAAGGtgctgctgctgctgttgctgctgct	0.591		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	lung(2)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7133	protein-coding gene	gene with protein product		602113	trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2	TNRC21, MLL2	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11223_11237delACAGCAGCAGCAGCA	12.37:g.49427251_49427265delTGCTGCTGCTGCTGT	ENSP00000301067:p.Gln3741_Gln3745del	NA		37	CCDS44873.1																																																																																			KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	In_Frame_Del	DEL	12 : 49427251 - 49427265 - PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	91	35
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	106	62
MAN2B1	4125	broad.mit.edu	37	19	12763078	12763078	+	Silent	SNP	G	G	A	rs34853569	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:12763078G>A	ENST00000456935.2	-	16	1975	c.1935C>T	c.(1933-1935)aaC>aaT	p.N645N	MAN2B1_ENST00000221363.4_Silent_p.N644N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	645					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTATACTGGCGTTGTACCTGG	0.592		NA											G	18	0.01	0.03	0.01	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0083	0.9947	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0								G	,	162,4244	110.8+/-149.0	4,154,2045	130	101	111		1935,1932	-11.2	0.1	19	dbSNP_126	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAN2B1	NM_000528.3,NM_001173498.1	,	4,155,6344	AA,AG,GG	NA	0.0116,3.6768,1.2533	,	645/1012,644/1011	12763078	163,12843	2203	4300	6503	SO:0001819	synonymous_variant				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	4125	4125	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB	NA		Standard		NM_000528	NA	Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1935C>T	19.37:g.12763078G>A		NA	O15330|Q16680|Q93094|Q9BW13	37	CCDS32919.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	G	0.018	-1.477523	0.01035	0.036768	1.16E-4	ENSG00000104774	ENST00000433513	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.24431	0.0592	.	.	.	0.45439	D	0.998412	.	.	.	.	.	.	T	0.69343	-0.5170	4	.	.	.	-8.3103	13.3469	0.60578	0.2157:0.0:0.6193:0.165	rs34853569	.	.	.	C	181	.	.	R	-	1	0	MAN2B1	12624078	0.002000	0.14202	0.081000	0.20488	0.002000	0.02628	-1.569000	0.02142	-3.131000	0.00236	-1.105000	0.02106	CGC	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344062.1		-	ENST00000456935.2	Silent	SNP	19 : 12763078 - 12763078 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	507	191
MAP3K6	9064	broad.mit.edu	37	1	27687469	27687469	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000493901.1	-	15	2102	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000374040.3_Silent_p.T613T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	1		NA											NA				27687469		2121	4247	6368	SO:0001819	synonymous_variant			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733	9064	9064		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6858	protein-coding gene	gene with protein product	apoptosis signal regulating kinase 2	604468			NA	9875215	Standard	NM_004672	XM_005246029	NA	Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1863G>A	1.37:g.27687469C>T		NA	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407554	0.25378	.	.	ENSG00000142733	ENST00000472410	.	.	.	5.2	-0.331	0.12679	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	1.4977	0.02470	0.1414:0.4258:0.1589:0.2739	.	.	.	.	Q	345	.	.	R	-	2	0	MAP3K6	27560056	0.002000	0.14202	0.955000	0.39395	0.932000	0.56968	-1.018000	0.03626	0.198000	0.20407	0.655000	0.94253	CGA	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000013469.2		-	ENST00000493901.1	Silent	SNP	1 : 27687469 - 27687469 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	128	22
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:71209085C>T	ENST00000553414.1	-	5	947	c.632G>A	c.(631-633)cGc>cAc	p.R211H	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000554752.2_Missense_Mutation_p.R517H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.001	SNP	GBM(114;411 1587 13539 28235 50070)							NA				0													100	94	96			NA	NA	14		NA											NA				71209085		2203	4300	6503	SO:0001583	missense			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432	4293	4293		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6861	protein-coding gene	gene with protein product		600136		MLK1	NA		Standard		NM_001284231	NA	Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000553414.1:c.632G>A	14.37:g.71209085C>T	ENSP00000451038:p.Arg211His	NA	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.47	1.947067	0.34377	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	6.06	5.17	0.71159	Protein kinase-like domain (1);	0.211843	0.49305	D	0.000141	T	0.07413	0.0187	N	0.25245	0.725	0.50171	D	0.999854	B;B;B;B	0.20261	0.001;0.025;0.043;0.005	B;B;B;B	0.20577	0.005;0.009;0.03;0.013	T	0.28332	-1.0047	10	0.35671	T	0.21	.	7.1057	0.25362	0.1401:0.71:0.0:0.1499	.	254;517;517;211	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	517;517;211;517;254;245	ENSP00000451612:R517H;ENSP00000451038:R211H;ENSP00000370649:R517H;ENSP00000451921:R254H	ENSP00000005198:R517H	R	-	2	0	MAP3K9	70278838	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.617000	0.54181	1.577000	0.49804	-0.150000	0.13652	CGC	MAP3K9-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412552.1		-	ENST00000553414.1	Missense_Mutation	SNP	14 : 71209085 - 71209085 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	646	5
MATN1	4146	broad.mit.edu	37	1	31188936	31188936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:31188936G>A	ENST00000373765.4	-	5	1062	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	343	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATATTCCGCACAGCCGCC	0.592		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	EXOME	NA	NA	2e-04	SNP								NA				0													106	115	112			NA	NA	1		NA											NA				31188936		2203	4300	6503	SO:0001583	missense			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510	4146	4146			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP	NA	2246248, 9083061	Standard	NM_002379	NM_002379	NA	Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1027C>T	1.37:g.31188936G>A	ENSP00000362870:p.Arg343Trp	NA	B2R7E3|Q5TBB9	37	CCDS336.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.4	3.990861	0.74703	.	.	ENSG00000162510	ENST00000373765	T	0.79554	-1.28	5.34	0.615	0.17608	von Willebrand factor, type A (3);	.	.	.	.	D	0.88179	0.6367	M	0.78285	2.405	0.35079	D	0.763242	D;D	0.89917	0.999;1.0	D;D	0.68483	0.958;0.958	D	0.91112	0.4923	9	0.72032	D	0.01	-22.2694	14.8171	0.70041	0.0:0.0:0.2392:0.7608	.	327;343	A3KMG0;P21941	.;MATN1_HUMAN	W	343	ENSP00000362870:R343W	ENSP00000362870:R343W	R	-	1	2	MATN1	30961523	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.748000	0.62148	0.193000	0.20303	0.650000	0.86243	CGG	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010458.1		-	ENST00000373765.4	Missense_Mutation	SNP	1 : 31188936 - 31188936 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	540	7
MCF2L2	23101	broad.mit.edu	37	3	183027561	183027561	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	352					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGCATCACGCTGTCTCCAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	129	133			NA	NA	3		NA											NA				183027561		2203	4300	6503	SO:0001819	synonymous_variant			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524	23101	23101		Rho guanine nucleotide exchange factors	30319	protein-coding gene	gene with protein product					NA		Standard	NM_015078	NM_015078	NA	Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1056C>T	3.37:g.183027561G>A		NA	O94942|Q6P2B8|Q6ZVJ5|Q8N318	37	CCDS3243.1																																																																																			MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350868.1		-	ENST00000328913.3	Silent	SNP	3 : 183027561 - 183027561 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	401	11
MECOM	2122	broad.mit.edu	37	3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TTATTAT	TTATTAT	-	-	TTATTAT	TTATTAT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)aataataagfs	p.NNK445fs	MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTCTTTCTTATTATTTATTGAAGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276	2122	2122		Zinc fingers, C2H2-type	3498	protein-coding gene	gene with protein product		165215	myelodysplasia syndrome 1, ecotropic viral integration site 1	MDS1, EVI1	NA	2115646, 8171026, 8643684	Standard	NM_005241, NM_004991	NM_001105077	NA	Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1334_1340delATAATAA	3.37:g.168833756_168833762delTTATTAT	ENSP00000419770:p.Asn445fs	NA	Q13466|Q6FH90	37	CCDS54669.1																																																																																			MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351519.1		-	ENST00000464456.1	Frame_Shift_Del	DEL	3 : 168833756 - 168833762 - PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	313	94
MED15	51586	broad.mit.edu	37	22	20929453	20929453	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:20929453G>A	ENST00000263205.7	+	9	1275	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000425759.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	402	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCCGGTTCCCGCCTACCACCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	100	105			NA	NA	22		NA											NA				20929453		2203	4300	6503	SO:0001819	synonymous_variant			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917	51586	51586			14248	protein-coding gene	gene with protein product		607372	trinucleotide repeat containing 7, PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein	TNRC7, PCQAP	NA	11024300, 11414760, 15175163	Standard	NM_015889	XM_005261632	NA	Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1206G>A	22.37:g.20929453G>A		NA	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	37	CCDS33602.1																																																																																			MED15-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320177.2		+	ENST00000263205.7	Silent	SNP	22 : 20929453 - 20929453 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	373	6
MGAT5	4249	broad.mit.edu	37	2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000468758.1	+	0	654				MGAT5_ENST00000409645.1_Missense_Mutation_p.M27V|MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	NA					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CATTTGGGGTATGATGCTTCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	111	118			NA	NA	2		NA											NA				135012053		2203	4300	6503	SO:0001624	3_prime_UTR_variant			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	4249	4249	2.4.1.155	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7049	protein-coding gene	gene with protein product		601774			NA	8292036	Standard	NM_002410	NM_002410	NA	Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000468758.1:c.*651A>G	2.37:g.135012053A>G		NA	D3DP70	37		.	.	.	.	.	.	.	.	.	.	A	17.62	3.435716	0.62955	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.38531	1.155	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.56541	-0.7962	9	0.16420	T	0.52	-29.1494	14.9292	0.70903	1.0:0.0:0.0:0.0	.	27	Q09328	MGT5A_HUMAN	V	27	.	ENSP00000281923:M27V	M	+	1	0	MGAT5	134728523	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.087000	0.94110	2.162000	0.67917	0.528000	0.53228	ATG	MGAT5-004	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000332273.1		+	ENST00000468758.1	3'UTR	SNP	2 : 135012053 - 135012053 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	144	75
MICU3	286097	broad.mit.edu	37	8	16963051	16963051	+	Silent	SNP	A	A	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:16963051A>C	ENST00000318063.5	+	11	1257	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3	NA											NA						AAAATACATCAGTATTTTTAG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	61	60			NA	NA	8		NA											NA				16963051		2198	4296	6494	SO:0001819	synonymous_variant			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970	286097	286097		EF-hand domain containing	27820	protein-coding gene	gene with protein product		610633	EF hand domain family A2, EF-hand domain family, member A2	EFHA2	NA	23409044	Standard	NM_181723	NM_181723	NA	Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1215A>C	8.37:g.16963051A>C		NA		37	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	A	8.918	0.960323	0.18507	.	.	ENSG00000155970	ENST00000519044	.	.	.	4.99	-0.65	0.11457	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26292	-1.0107	4	.	.	.	-23.2572	3.7775	0.08667	0.5615:0.2499:0.0683:0.1202	.	.	.	.	P	250	.	.	Q	+	2	0	EFHA2	17007422	0.834000	0.29399	0.993000	0.49108	0.987000	0.75469	0.023000	0.13533	0.083000	0.17047	0.528000	0.53228	CAG	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214031.1		+	ENST00000318063.5	Silent	SNP	8 : 16963051 - 16963051 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	117	4
MKNK2	2872	broad.mit.edu	37	19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:2041073G>A	ENST00000591601.1	-	11	1111	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000250896.3_Missense_Mutation_p.A359V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	359	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	p.A359V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GACTTGGGCGGCACTCAGCCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											125	100	109			NA	NA	19		NA											NA				2041073		2203	4300	6503	SO:0001583	missense			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875	2872	2872			7111	protein-coding gene	gene with protein product	Putative map kinase interacting kinase	605069	G protein-coupled receptor kinase 7	GPRK7	NA	11013076	Standard	NM_199054	NM_199054	NA	Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1076C>T	19.37:g.2041073G>A	ENSP00000467811:p.Ala359Val	NA	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	37	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140434	0.77775	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.46063	0.88;0.88;0.88	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117336	0.56097	D	0.000022	T	0.52933	0.1765	L	0.38531	1.155	0.80722	D	1	D;D;P;P	0.71674	0.988;0.998;0.939;0.868	D;D;P;P	0.71414	0.951;0.973;0.779;0.859	T	0.55848	-0.8076	10	0.52906	T	0.07	-6.964	15.1499	0.72689	0.0:0.0:1.0:0.0	.	164;359;359;261	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	V	359;359;228;299	ENSP00000309485:A359V;ENSP00000250896:A359V;ENSP00000438904:A228V	ENSP00000250896:A359V	A	-	2	0	MKNK2	1992073	1.000000	0.71417	0.540000	0.28089	0.417000	0.31264	9.343000	0.97047	2.046000	0.60703	0.555000	0.69702	GCC	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449312.1		-	ENST00000591601.1	Missense_Mutation	SNP	19 : 2041073 - 2041073 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	532	5
MRGPRX2	117194	broad.mit.edu	37	11	19077764	19077764	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049).		sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAGAGAAGGCGTTCCTGCGCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(198;1966 2199 4849 37227 49954)							NA				0													82	90	87			NA	NA	11		NA											NA				19077764		2199	4293	6492	SO:0001819	synonymous_variant				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695	117194	117194		GPCR / Class A : Orphans	17983	protein-coding gene	gene with protein product		607228			NA	11551509	Standard	NM_054030	NM_054030	NA	Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.186C>T	11.37:g.19077764G>A		NA	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	37	CCDS7847.1																																																																																			MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387819.1		-	ENST00000329773.2	Silent	SNP	11 : 19077764 - 19077764 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	709	94
MUC16	94025	broad.mit.edu	37	19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10104	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCCATGCTTGAAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	109	110			NA	NA	19		NA											NA				9057140		1955	4160	6115	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30306G>T	19.37:g.9057140C>A	ENSP00000381008:p.Met10102Ile	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.031	-0.199690	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.20200	2.09	2.6	-5.21	0.02815	.	.	.	.	.	T	0.07954	0.0199	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	8	0.87932	D	0	.	1.7767	0.03023	0.1437:0.3395:0.3098:0.2071	.	10102	B5ME49	.	I	10102	ENSP00000381008:M10102I	ENSP00000381008:M10102I	M	-	3	0	MUC16	8918140	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.069000	0.00619	-1.862000	0.01151	-1.436000	0.01078	ATG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9057140 - 9057140 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	455	144
MUC16	94025	broad.mit.edu	37	19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	623	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGTGGGTTGTGCCCTGGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	97	96			NA	NA	19		NA											NA				9089947		2196	4294	6490	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1868C>A	19.37:g.9089947G>T	ENSP00000381008:p.Thr623Lys	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.239	-0.155665	0.06544	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.68	-0.919	0.10478	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.15870	0.014	T	0.46247	-0.9205	8	0.87932	D	0	.	2.1688	0.03844	0.2075:0.0:0.4212:0.3713	.	623	B5ME49	.	K	623	ENSP00000381008:T623K	ENSP00000381008:T623K	T	-	2	0	MUC16	8950947	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.135000	0.10420	-0.188000	0.10499	0.205000	0.17691	ACA	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9089947 - 9089947 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	424	139
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTTCCCGCGACCCCAGGTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	45	43			NA	NA	17		NA											NA				18023559		2049	4191	6240	SO:0001583	missense			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536	51168	51168		Myosins / Myosin superfamily : Class XV	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15	NA	9603736	Standard	NM_016239	NM_016239	NA	Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1445G>A	17.37:g.18023559G>A	ENSP00000205890:p.Arg482Gln	NA		37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131602	0.77662	.	.	ENSG00000091536	ENST00000205890	T	0.51325	0.71	5.1	5.1	0.69264	.	.	.	.	.	T	0.59756	0.2217	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61978	-0.6951	9	0.54805	T	0.06	.	18.1103	0.89533	0.0:0.0:1.0:0.0	.	482	Q9UKN7	MYO15_HUMAN	Q	482	ENSP00000205890:R482Q	ENSP00000205890:R482Q	R	+	2	0	MYO15A	17964284	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.973000	0.88032	2.374000	0.81015	0.561000	0.74099	CGA	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132048.1		+	ENST00000205890.5	Missense_Mutation	SNP	17 : 18023559 - 18023559 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	219	31
NCAPD3	23310	broad.mit.edu	37	11	134054844	134054844	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:134054844C>T	ENST00000534548.2	-	18	2353	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	763					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGCAATATGCCCAATCACAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													308	314	312			NA	NA	11		NA											NA				134054844		2201	4297	6498	SO:0001819	synonymous_variant			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503	23310	23310			28952	protein-coding gene	gene with protein product		609276			NA	7584044, 8619474, 14532007	Standard	NM_015261	NM_015261	NA	Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2289G>A	11.37:g.134054844C>T		NA	A6NFS2|Q4KMQ9	37	CCDS31723.1																																																																																			NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393575.2		-	ENST00000534548.2	Silent	SNP	11 : 134054844 - 134054844 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1759	9
NINL	22981	broad.mit.edu	37	20	25462667	25462667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:25462667G>A	ENST00000278886.6	-	14	1820	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	NINL_ENST00000422516.1_Missense_Mutation_p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	583					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGCTGTGCCGGTTCTTGGGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	48	46			NA	NA	20		NA											NA				25462667		2202	4300	6502	SO:0001583	missense				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004	22981	22981		EF-hand domain containing	29163	protein-coding gene	gene with protein product	ninein-like protein	609580			NA	10231032	Standard	NM_025176	XM_005260678	NA	Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1747C>T	20.37:g.25462667G>A	ENSP00000278886:p.Arg583Trp	NA	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083873	0.36758	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34859	1.58;1.34	4.73	-5.11	0.02901	.	2.414770	0.01809	N	0.033350	T	0.27765	0.0683	L	0.46741	1.465	0.09310	N	1	B;B	0.26147	0.143;0.001	B;B	0.15484	0.013;0.0	T	0.25433	-1.0132	10	0.51188	T	0.08	-6.8188	5.0826	0.14664	0.3951:0.0:0.3319:0.273	.	583;583	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	583	ENSP00000278886:R583W;ENSP00000410431:R583W	ENSP00000278886:R583W	R	-	1	2	NINL	25410667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.540000	0.06106	-0.682000	0.05197	0.555000	0.69702	CGG	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078445.3		-	ENST00000278886.6	Missense_Mutation	SNP	20 : 25462667 - 25462667 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	575	6
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	16		NA											NA				4516232		2197	4300	6497	SO:0001583	missense			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406	57407	57407		Short chain dehydrogenase/reductase superfamily / Atypical members	24987	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 48A, member 1				NA	19027726	Standard	NM_020677	NM_020677	NA	Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.451C>T	16.37:g.4516232G>A	ENSP00000458762:p.Arg151Trp	NA		37	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804190	0.70682	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.84	3.85	0.44370	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.199000	0.51043	0.786000	0.33708	-0.309000	0.09137	CGG	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438579.1		-	ENST00000574733.1	Missense_Mutation	SNP	16 : 4516232 - 4516232 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	386	5
NOTCH1	4851	broad.mit.edu	37	9	139404265	139404265	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139404265G>A	ENST00000277541.6	-	18	2964	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	963	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCTGTCCACGCAGTCCGTGC	0.642		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													74	85	81			NA	NA	9		NA											NA				139404265		2098	4226	6324	SO:0001819	synonymous_variant			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2889C>T	9.37:g.139404265G>A		NA	Q59ED8|Q5SXM3	37	CCDS43905.1																																																																																			NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Silent	SNP	9 : 139404265 - 139404265 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	662	6
NRF1	4899	broad.mit.edu	37	7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493		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)											122	124	124			NA	NA	7		NA											NA				129349051		2203	4300	6503	SO:0001583	missense			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459	4899	4899			7996	protein-coding gene	gene with protein product	alpha palindromic-binding protein	600879			NA	2584221	Standard	NM_001040110	NM_005011	NA	Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.743G>A	7.37:g.129349051G>A	ENSP00000376924:p.Arg248His	NA	Q15305	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.582880	0.96578	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.499000	0.97975	2.772000	0.95346	0.655000	0.94253	CGC	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000289813.1		+	ENST00000393232.1	Missense_Mutation	SNP	7 : 129349051 - 129349051 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	553	7
ONECUT2	9480	broad.mit.edu	37	18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	199					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACCCTCATGCGCGACGAGCGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	33	31			NA	NA	18		NA											NA				55103544		2150	4257	6407	SO:0001583	missense			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547	9480	9480		Homeoboxes / CUT class	8139	protein-coding gene	gene with protein product		604894	one cut domain, family member 2		NA	9915796	Standard		NM_004852	NA	Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.596G>C	18.37:g.55103544G>C	ENSP00000419185:p.Arg199Pro	NA		37	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796477	0.70567	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.78155	0.4239	M	0.76574	2.34	0.53688	D	0.999979	D	0.71674	0.998	D	0.79108	0.992	T	0.80984	-0.1138	9	0.56958	D	0.05	-18.0298	15.663	0.77203	0.0:0.0:1.0:0.0	.	199	O95948	ONEC2_HUMAN	P	180;199	.	ENSP00000262095:R199P	R	+	2	0	ONECUT2	53254542	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.544000	0.98092	1.990000	0.58119	0.455000	0.32223	CGC	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357264.3		+	ENST00000491143.2	Missense_Mutation	SNP	18 : 55103544 - 55103544 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	95	46
OR2T3	343173	broad.mit.edu	37	1	248637216	248637216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:248637216C>A	ENST00000359594.2	+	1	590	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACTCCTGCCCTGCTGAAGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	91	96			NA	NA	1		NA											NA				248637216		2168	4270	6438	SO:0001583	missense				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539	343173	343173		GPCR / Class A : Olfactory receptors	14727	protein-coding gene	gene with protein product					NA		Standard	NM_001005495	NM_001005495	NA	Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.565C>A	1.37:g.248637216C>A	ENSP00000352604:p.Leu189Met	NA	B2RNJ1	37	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	7.761	0.705426	0.15172	.	.	ENSG00000196539	ENST00000359594	T	0.00224	8.51	2.37	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.58354	1.805	0.09310	N	1	P	0.46142	0.873	B	0.43360	0.417	T	0.14868	-1.0457	9	0.24483	T	0.36	.	6.2171	0.20661	0.0:0.3597:0.2818:0.3585	.	189	Q8NH03	OR2T3_HUMAN	M	189	ENSP00000352604:L189M	ENSP00000352604:L189M	L	+	1	2	OR2T3	246703839	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-4.147000	0.00285	-1.359000	0.02174	0.186000	0.17326	CTG	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097348.1		+	ENST00000359594.2	Missense_Mutation	SNP	1 : 248637216 - 248637216 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	832	7
OSBPL10	114884	broad.mit.edu	37	3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	283					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGGTGGCAGCAGAGGTAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	3		NA											NA				31789494		2203	4300	6503	SO:0001583	missense			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645	114884	114884		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16395	protein-coding gene	gene with protein product		606738			NA		Standard		NM_001174060	NA	Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.848C>T	3.37:g.31789494G>A	ENSP00000379804:p.Ala283Val	NA	Q9BTU5	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000746	0.74818	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.45276	0.9;0.9;0.9	5.61	4.74	0.60224	.	0.047989	0.85682	D	0.000000	T	0.62962	0.2471	M	0.74881	2.28	0.50171	D	0.999853	D;P;P	0.89917	1.0;0.949;0.901	D;P;P	0.87578	0.998;0.642;0.49	T	0.62320	-0.6879	10	0.30078	T	0.28	-12.5971	14.4653	0.67480	0.0704:0.0:0.9296:0.0	.	219;283;51	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	V	283;219;91	ENSP00000379804:A283V;ENSP00000406124:A219V;ENSP00000399200:A91V	ENSP00000379804:A283V	A	-	2	0	OSBPL10	31764498	1.000000	0.71417	0.295000	0.24960	0.993000	0.82548	9.459000	0.97638	1.367000	0.46095	0.549000	0.68633	GCT	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253165.2		-	ENST00000396556.2	Missense_Mutation	SNP	3 : 31789494 - 31789494 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	508	5
P4HA1	5033	broad.mit.edu	37	10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000373008.2	-	5	531	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	P4HA1_ENST00000412021.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	139						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAGGTATCCTGGAGACGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(147;367 2405 2662 52127)							NA				0													180	167	171			NA	NA	10		NA											NA				74828652		2203	4300	6503	SO:0001583	missense				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	5033	5033	1.14.11.2		8546	protein-coding gene	gene with protein product	collagen prolyl 4-hydroxylase alpha(I)	176710	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I	P4HA	NA	2556027	Standard	NM_000917	NM_001017962	NA	Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000373008.2:c.415G>T	10.37:g.74828652C>A	ENSP00000362099:p.Asp139Tyr	NA	Q15082|Q15083|Q5VSQ5	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873543	0.91664	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52526	0.68;0.68;0.68;0.68;0.68;0.66	5.61	5.61	0.85477	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84676	0.0714	10	0.87932	D	0	-29.5049	19.6379	0.95744	0.0:1.0:0.0:0.0	.	139;139;139	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Y	139	ENSP00000307318:D139Y;ENSP00000362099:D139Y;ENSP00000411688:D139Y;ENSP00000378353:D139Y;ENSP00000263556:D139Y;ENSP00000414464:D139Y	ENSP00000263556:D139Y	D	-	1	0	P4HA1	74498658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.374000	0.79633	2.657000	0.90304	0.655000	0.94253	GAT	P4HA1-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000048602.1		-	ENST00000373008.2	Missense_Mutation	SNP	10 : 74828652 - 74828652 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	746	291
PCDH15	65217	broad.mit.edu	37	10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000373965.2	-	15	2144	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGTAAGTCCGCCCGACTATC	0.483		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	119	125			NA	NA	10		NA											NA				55912915		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.1750C>T	10.37:g.55912915G>A	ENSP00000363076:p.Arg584Trp	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	G	12.46	1.945863	0.34377	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.83	2.87	0.33458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76751	0.4031	M	0.88979	2.995	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;1.0;1.0;0.997;1.0;1.0;0.994;0.997;0.987;0.997;0.999	D;P;P;P;D;D;D;P;D;D;P;P;P;P;P	0.67725	0.932;0.901;0.901;0.849;0.932;0.932;0.932;0.883;0.953;0.953;0.832;0.832;0.742;0.893;0.901	T	0.66689	-0.5860	9	0.87932	D	0	.	10.5008	0.44804	0.0:0.1241:0.4926:0.3833	.	555;577;577;582;577;540;577;577;584;584;577;582;577;555;577	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	W	584;582;577;577;188;584;577;540;577;555;555;577;577;582;577;577	ENSP00000363076:R584W;ENSP00000410304:R582W;ENSP00000378826:R577W;ENSP00000386693:R188W;ENSP00000378832:R584W;ENSP00000378833:R577W;ENSP00000378820:R540W;ENSP00000354950:R577W;ENSP00000378821:R555W;ENSP00000363068:R555W;ENSP00000322604:R577W;ENSP00000378818:R577W;ENSP00000412628:R577W;ENSP00000363066:R577W	ENSP00000322604:R577W	R	-	1	2	PCDH15	55582921	0.019000	0.18553	0.006000	0.13384	0.053000	0.15095	1.942000	0.40243	0.331000	0.23511	0.650000	0.86243	CGG	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55912915 - 55912915 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	428	171
PCDHA1	56147	broad.mit.edu	37	5	140166589	140166589	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000378133.3_Silent_p.N238N|PCDHA1_ENST00000394633.3_Silent_p.N238N	NM_018900.2	NP_061723.1			protocadherin alpha 1	NA										breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	96			NA	NA	5		NA											NA				140166589		2203	4300	6503	SO:0001819	synonymous_variant			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970	56147	56147		Cadherins / Protocadherins : Clustered	8663	other	complex locus constituent	KIAA0345-like 13	606307			NA	10380929	Standard	NM_018900	NM_018900	NA	Approved			Q9Y5I3		ENST00000504120.2:c.714C>T	5.37:g.140166589C>T		NA		37	CCDS54913.1																																																																																			PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389127.1		+	ENST00000504120.2	Silent	SNP	5 : 140166589 - 140166589 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	501	192
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	71	73	72		1017	-1.6	1	3		72	0,8600		0,0,4300	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		339/368	195965646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	5130	5130	2.7.7.15		8754	protein-coding gene	gene with protein product	phosphate cytidylyltransferase 1, choline, alpha isoform	123695	phosphate cytidylyltransferase 1, choline, alpha isoform	PCYT1	NA	7918629	Standard	NM_005017	NM_005017	NA	Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1017C>T	3.37:g.195965646G>A		NA	A9LYK9|D3DXB1|Q86Y88	37	CCDS3315.1																																																																																			PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341147.1		-	ENST00000292823.2	Silent	SNP	3 : 195965646 - 195965646 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	355	5
PITPNM2	57605	broad.mit.edu	37	12	123472784	123472784	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000280562.5	-	19	3181	c.2976G>T	c.(2974-2976)ctG>ctT	p.L992L	PITPNM2_ENST00000320201.4_Silent_p.L998L|PITPNM2_ENST00000542749.1_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCTCACCCGCAGCTTCACGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	70			NA	NA	12		NA											NA				123472784		2203	4300	6503	SO:0001819	synonymous_variant			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.2976G>T	12.37:g.123472784C>A		NA	Q9P271	37																																																																																				PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Silent	SNP	12 : 123472784 - 123472784 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	663	9
PLD5	200150	broad.mit.edu	37	1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000536534.2	-	10	1628	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E|PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	NA						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCAGCATTCTGAGTGAAATCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	117			NA	NA	1		NA											NA				242253380		2203	4300	6503	SO:0001583	missense			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287	200150	200150			26879	protein-coding gene	gene with protein product					NA		Standard	NM_152666	NM_001195811	NA	Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1387C>G	1.37:g.242253380G>C	ENSP00000440896:p.Gln463Glu	NA	A1KXV0|B7Z324|Q494U9|Q8NB22	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.505959	0.00992	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.137275	0.53938	D	0.000055	T	0.16599	0.0399	L	0.49126	1.545	0.30380	N	0.782052	B;P;B	0.39250	0.372;0.665;0.372	B;B;B	0.32677	0.15;0.119;0.15	T	0.10870	-1.0611	10	0.08837	T	0.75	-7.7223	13.5982	0.62002	0.0:0.0:0.8451:0.1548	.	371;463;401	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	401;371;463	ENSP00000401285:Q401E;ENSP00000414188:Q371E;ENSP00000440896:Q463E	ENSP00000401285:Q401E	Q	-	1	0	PLD5	240320003	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	3.937000	0.56575	2.723000	0.93209	0.655000	0.94253	CAG	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397213.2		-	ENST00000536534.2	Missense_Mutation	SNP	1 : 242253380 - 242253380 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	460	136
PPIP5K1	9677	broad.mit.edu	37	15	43827457	43827457	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000360135.4	-	30	3761	c.3636C>T	c.(3634-3636)tcC>tcT	p.S1212S	PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000420765.1_Silent_p.S1239S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S	NM_001190214.1	NP_001177143.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1239					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GCACCTGTGGGGACTGATTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	91			NA	NA	15		NA											NA				43827457		2201	4298	6499	SO:0001819	synonymous_variant			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	9677	9677	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	histidine acid phosphatase domain containing 2A	HISPPD2A	NA	17412958, 17690096, 18981179	Standard	NM_014659	NM_001190214	NA	Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000360135.4:c.3636C>T	15.37:g.43827457G>A		NA	O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	37	CCDS53937.1																																																																																			PPIP5K1-004	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132909.1		-	ENST00000360135.4	Silent	SNP	15 : 43827457 - 43827457 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	683	254
PRDM2	7799	broad.mit.edu	37	1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TACCATCACCGTAACCCCATG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	139	139			NA	NA	1		NA											NA				14108213		2203	4300	6503	SO:0001583	missense			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3923G>A	1.37:g.14108213G>A	ENSP00000235372:p.Arg1308His	NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502016	0.64298	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02050	4.59;4.48;4.48;4.48	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.29908	0.895	0.47037	D	0.999293	D;B;B	0.89917	1.0;0.167;0.257	D;B;B	0.74023	0.982;0.031;0.042	T	0.38672	-0.9650	10	0.87932	D	0	.	10.4416	0.44469	0.1477:0.0:0.8523:0.0	.	1166;1308;1308	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1308;1308;1308;1107;1107	ENSP00000235372:R1308H;ENSP00000312352:R1308H;ENSP00000411103:R1107H;ENSP00000341621:R1107H	ENSP00000235372:R1308H	R	+	2	0	PRDM2	13980800	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	6.781000	0.75068	1.635000	0.50512	0.655000	0.94253	CGT	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Missense_Mutation	SNP	1 : 14108213 - 14108213 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	775	6
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:116049072C>T	ENST00000374199.4	+	9	1297	c.896C>T	c.(895-897)gCg>gTg	p.A299V	PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													353	352	353			NA	NA	9		NA											NA				116049072		2203	4300	6503	SO:0001583	missense			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875	9128	9128		WD repeat domain containing	17349	protein-coding gene	gene with protein product	PRP4/STK/WD splicing factor, U4/U6 small nuclear ribonucleoprotein Prp4	607795	PRP4 pre-mRNA processing factor 4 homolog (yeast)		NA	9257651, 9404889	Standard	NM_004697	NM_004697	NA	Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374199.4:c.896C>T	9.37:g.116049072C>T	ENSP00000363315:p.Ala299Val	NA	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	37	CCDS59142.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG	PRPF4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053707.2		+	ENST00000374199.4	Missense_Mutation	SNP	9 : 116049072 - 116049072 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1791	10
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	9		NA											NA				79323756		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3434C>T	9.37:g.79323756G>A	ENSP00000365908:p.Ala1145Val	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79323756 - 79323756 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	541	6
PSG5	5673	broad.mit.edu	37	19	43679528	43679528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:43679528G>A	ENST00000404580.1	-	4	891	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.P268L|PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	268	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P268L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATACTCTGCCGGTGGGTTAGA	0.463		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)						G	LEU/PRO,LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	158	172	168		803,803	1.2	0.1	19		168	0,8590		0,0,4295	no	missense,missense	PSG5	NM_002781.3,NM_001130014.1	98,98	0,1,6496	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign	268/336,268/336	43679528	1,12993	2202	4295	6497	SO:0001583	missense				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941	5673	5673		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9522	protein-coding gene	gene with protein product	pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta 1 glycoprotein	176394			NA	2735907	Standard	NM_002781	NM_002781	NA	Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000404580.1:c.803C>T	19.37:g.43679528G>A	ENSP00000385250:p.Pro268Leu	NA	Q15239|Q96QJ1|Q9UQ75	37		.	.	.	.	.	.	.	.	.	.	g	8.795	0.931418	0.18131	2.27E-4	0.0	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	1.25	1.25	0.21368	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20210	0.0486	M	0.69823	2.125	0.24795	N	0.992738	B;B	0.27971	0.196;0.006	B;B	0.40285	0.325;0.018	T	0.32561	-0.9902	9	0.40728	T	0.16	.	5.8107	0.18465	0.0:0.0:1.0:0.0	.	361;268	Q15228;Q15238	.;PSG5_HUMAN	L	268	ENSP00000382334:P268L;ENSP00000386008:P268L;ENSP00000344413:P268L;ENSP00000385250:P268L	ENSP00000344413:P268L	P	-	2	0	PSG5	48371368	0.845000	0.29573	0.103000	0.21229	0.039000	0.13416	2.369000	0.44231	0.644000	0.30656	0.184000	0.17185	CCG	PSG5-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000323058.1		-	ENST00000404580.1	Missense_Mutation	SNP	19 : 43679528 - 43679528 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1245	8
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:804908C>T	ENST00000356948.6	+	7	1109	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		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;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCAGTATGCGGACCCCGTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82	77	79		686,686,686,	3.1	0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304	5725	5725		RNA binding motif (RRM) containing	9583	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein I	600693	polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)	PTB	NA	1906036, 11024286	Standard		NM_002819	NA	Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000356948.6:c.686C>T	19.37:g.804908C>T	ENSP00000349428:p.Ala229Val	NA		37	CCDS42456.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG	PTBP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457603.2		+	ENST00000356948.6	Missense_Mutation	SNP	19 : 804908 - 804908 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	569	6
PTCHD1	139411	broad.mit.edu	37	X	23410819	23410819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	395	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTTTCACGAACATTGAGGCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	108	114			NA	NA	X		NA											NA				23410819		2203	4300	6503	SO:0001583	missense			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186	139411	139411			26392	protein-coding gene	gene with protein product		300828			NA		Standard	NM_173495	NM_173495	NA	Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1184A>G	X.37:g.23410819A>G	ENSP00000368666:p.Asn395Ser	NA	B4DQH0|Q0IJ60|Q6P6B8	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340499	0.24339	.	.	ENSG00000165186	ENST00000379361	D	0.85088	-1.94	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	L	0.31752	0.955	0.50632	D	0.999886	B	0.11235	0.004	B	0.31290	0.127	T	0.68981	-0.5266	10	0.05436	T	0.98	.	14.5355	0.67958	1.0:0.0:0.0:0.0	.	395	Q96NR3	PTHD1_HUMAN	S	395	ENSP00000368666:N395S	ENSP00000368666:N395S	N	+	2	0	PTCHD1	23320740	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.910000	0.92685	1.881000	0.54492	0.486000	0.48141	AAC	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056047.2		+	ENST00000379361.4	Missense_Mutation	SNP	X : 23410819 - 23410819 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	262	5
R3HDM2	22864	broad.mit.edu	37	12	57677715	57677715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57677715G>A	ENST00000402412.1	-	13	1453	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000347140.3_Nonsense_Mutation_p.R341*			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	341	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACAGGGGGTCGCATGCTCCGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	99	102			NA	NA	12		NA											NA				57677715		2203	4300	6503	SO:0001587	stop_gained			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912	22864	22864			29167	protein-coding gene	gene with protein product					NA		Standard	NM_014925	NM_014925	NA	Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000402412.1:c.1063C>T	12.37:g.57677715G>A	ENSP00000385839:p.Arg355*	NA	Q2M1T9|Q3ZCT5	37		.	.	.	.	.	.	.	.	.	.	G	37	6.381252	0.97520	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000547262	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3391	16.9803	0.86325	0.0:0.0:1.0:0.0	.	.	.	.	X	68;68;341;355;341;2;106;341;211	.	ENSP00000317903:R341X	R	-	1	2	R3HDM2	55963982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.455000	0.66658	2.544000	0.85801	0.555000	0.69702	CGA	R3HDM2-003	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000326572.1		-	ENST00000402412.1	Nonsense_Mutation	SNP	12 : 57677715 - 57677715 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	521	5
RASA3	22821	broad.mit.edu	37	13	114773065	114773065	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	94	101			NA	NA	13		NA											NA				114773065		2201	4298	6499	SO:0001819	synonymous_variant				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989	22821	22821		Pleckstrin homology (PH) domain containing	20331	protein-coding gene	gene with protein product		605182			NA	7637787, 9382842	Standard	NM_007368	NM_007368	NA	Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1686G>A	13.37:g.114773065C>T		NA	A6NL15|Q8IUY2	37	CCDS32016.1																																																																																			RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045957.2		-	ENST00000334062.7	Silent	SNP	13 : 114773065 - 114773065 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	263	104
RCAN2	10231	broad.mit.edu	37	6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000371374.1	-	4	760	c.569C>T	c.(568-570)cCa>cTa	p.P190L	RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L|RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	144					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAGCTTACCTGGTCCTAGTTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	6		NA											NA				46214487		1931	4137	6068	SO:0001583	missense			D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348	10231	10231			3041	protein-coding gene	gene with protein product		604876	Down syndrome critical region gene 1-like 1	DSCR1L1	NA	8662924	Standard		NM_001251973	NA	Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000371374.1:c.569C>T	6.37:g.46214487G>A	ENSP00000360425:p.Pro190Leu	NA	A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	37	CCDS59023.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100723	0.94245	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.73217	2.22	0.80722	D	1	P;P	0.50710	0.938;0.775	P;B	0.58130	0.833;0.396	T	0.74609	-0.3608	9	0.87932	D	0	-9.8695	18.8222	0.92102	0.0:0.0:1.0:0.0	.	190;144	Q14206-2;Q14206	.;RCAN2_HUMAN	L	144;190;190;190	.	ENSP00000305223:P190L	P	-	2	0	RCAN2	46322446	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.378000	0.97191	2.703000	0.92315	0.585000	0.79938	CCA	RCAN2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040783.1		-	ENST00000371374.1	Missense_Mutation	SNP	6 : 46214487 - 46214487 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	156	5
RNF123	63891	broad.mit.edu	37	3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	406						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCATTACCTGCGGCTCACTAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	114	103	107		1216	3.4	1	3		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF123	NM_022064.2	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	406/1315	49738081	1,13005	2203	4300	6503	SO:0001583	missense			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068	63891	63891		RING-type (C3HC4) zinc fingers	21148	protein-coding gene	gene with protein product		614472			NA		Standard	NM_022064	NM_022064	NA	Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1216C>T	3.37:g.49738081C>T	ENSP00000328287:p.Arg406Trp	NA	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373157	0.82573	0.0	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76060	-0.7;-0.99	5.26	3.38	0.38709	.	0.575264	0.18160	N	0.149820	T	0.68081	0.2962	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.988	P;P	0.50231	0.635;0.513	T	0.68629	-0.5358	10	0.56958	D	0.05	-11.9117	13.28	0.60208	0.2744:0.7256:0.0:0.0	.	260;406	C9J266;Q5XPI4	.;RN123_HUMAN	W	406;406;260	ENSP00000328287:R406W;ENSP00000392443:R260W	ENSP00000328287:R406W	R	+	1	2	RNF123	49713085	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.753000	0.55180	0.541000	0.28827	0.561000	0.74099	CGG	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346475.2		+	ENST00000327697.6	Missense_Mutation	SNP	3 : 49738081 - 49738081 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	626	6
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642		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)											102	109	107			NA	NA	7		NA											NA				5662580		2203	4300	6503	SO:0001583	missense			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275	54476	54476		RING-type (C3HC4) zinc fingers	21698	protein-coding gene	gene with protein product		609948			NA		Standard	NM_207111	NM_207111	NA	Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp	NA	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340374.1		-	ENST00000425013.2	Missense_Mutation	SNP	7 : 5662580 - 5662580 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1056	7
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000427134.2_Missense_Mutation_p.T136I	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											151	153	152			NA	NA	6		NA											NA				32147865		1511	2709	4220	SO:0001583	missense			U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308	6048	6048		RING-type (C3HC4) zinc fingers	10068	protein-coding gene	gene with protein product		602677	ring finger protein 5		NA	9533025	Standard	NM_006913	NM_006913	NA	Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile	NA	A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	37	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076133.2		+	ENST00000375094.3	Missense_Mutation	SNP	6 : 32147865 - 32147865 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	505	5
RP4-583P15.15	0	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:62365008A>G	ENST00000490623.2	+	3	505	c.505A>G	c.(505-507)Acg>Gcg	p.T169A	ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000328969.5_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR						NA											NA						GTGGAGGGGGACGGCATCCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	130	132			NA	NA	20		NA											NA				62365008		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000490623.2:c.505A>G	20.37:g.62365008A>G	ENSP00000476393:p.Thr169Ala	NA		37		.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC	RP4-583P15.15-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000473237.1		+	ENST00000490623.2	Missense_Mutation	SNP	20 : 62365008 - 62365008 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	986	6
RREB1	6239	broad.mit.edu	37	6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000379938.2	+	10	2775	c.2238delC	c.(2236-2238)gacfs	p.D746fs	RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	746					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCTGGTGGACGCCTTCTGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	51	52			NA	NA	6		NA											NA				7230570		2203	4300	6503	SO:0001589	frameshift_variant			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782	6239	6239		Zinc fingers, C2H2-type	10449	protein-coding gene	gene with protein product	hindsight homolog (drosophila)	602209			NA	9367691, 18394891	Standard		NM_001003698	NA	Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000379938.2:c.2238delC	6.37:g.7230570delC	ENSP00000369270:p.Asp746fs	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1																																																																																			RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Frame_Shift_Del	DEL	6 : 7230570 - 7230570 - PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	260	146
RRS1	23212	broad.mit.edu	37	8	67341954	67341954	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:67341954G>A	ENST00000320270.2	+	1	692	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	196					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGCCCGCGCGCACAAGATGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	8		NA											NA				67341954		2176	4264	6440	SO:0001819	synonymous_variant			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041	23212	23212			17083	protein-coding gene	gene with protein product					NA	7788527, 10688653	Standard	NM_015169	NM_015169	NA	Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.588G>A	8.37:g.67341954G>A		NA	Q9BUX8	37	CCDS6189.1																																																																																			RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380126.1		+	ENST00000320270.2	Silent	SNP	8 : 67341954 - 67341954 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	287	5
SCAF11	9169	broad.mit.edu	37	12	46326986	46326986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:46326986C>T	ENST00000369367.3	-	9	895	c.662G>A	c.(661-663)aGt>aAt	p.S221N	SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N|SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	221					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATCAATGCACTGATTTCACT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	91			NA	NA	12		NA											NA				46326986		1819	4071	5890	SO:0001583	missense			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218	9169	9169		RING-type (C3HC4) zinc fingers	10784	protein-coding gene	gene with protein product		603668	splicing factor, arginine/serine-rich 2, interacting protein, serine/arginine-rich splicing factor 2, interacting protein	SFRS2IP, SRSF2IP	NA	9224939, 9447963	Standard	NM_004719	NM_004719	NA	Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.662G>A	12.37:g.46326986C>T	ENSP00000358374:p.Ser221Asn	NA	A6NEU9|A6NLW5|Q8IW59	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076932	0.20227	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.44083	0.93;1.52;0.93;0.93	5.95	2.7	0.31948	.	0.545330	0.14975	N	0.287606	T	0.22322	0.0538	N	0.19112	0.55	0.23896	N	0.996533	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.21827	-1.0234	10	0.12766	T	0.61	-7.7182	5.2561	0.15548	0.0:0.5262:0.1514:0.3224	.	29;221	F8VXG7;Q99590	.;SCAFB_HUMAN	N	221;29;221;161	ENSP00000358374:S221N;ENSP00000448864:S29N;ENSP00000413036:S221N;ENSP00000446746:S161N	ENSP00000358374:S221N	S	-	2	0	SCAF11	44613253	0.933000	0.31639	1.000000	0.80357	0.930000	0.56654	-0.079000	0.11357	0.836000	0.34901	0.563000	0.77884	AGT	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313992.2		-	ENST00000369367.3	Missense_Mutation	SNP	12 : 46326986 - 46326986 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	280	92
SCN2A	6326	broad.mit.edu	37	2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000375437.2	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	467					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCTGCAGCCGCATCTGCTGA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	66	64			NA	NA	2		NA											NA				166171996		2203	4299	6502	SO:0001583	missense			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1399G>A	2.37:g.166171996G>A	ENSP00000364586:p.Ala467Thr	NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650394	0.29336	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96427	-4.01;-3.95;-3.95;-3.95;-3.95	5.9	5.02	0.67125	.	0.539045	0.18025	N	0.154104	D	0.93360	0.7883	L	0.40543	1.245	0.49483	D	0.999793	B;B	0.21520	0.055;0.057	B;B	0.19666	0.026;0.013	D	0.90222	0.4272	10	0.21540	T	0.41	.	15.0639	0.71977	0.0677:0.0:0.9323:0.0	.	467;467	Q99250-2;Q99250	.;SCN2A_HUMAN	T	467	ENSP00000406454:A467T;ENSP00000364586:A467T;ENSP00000349973:A467T;ENSP00000283256:A467T;ENSP00000364576:A467T	ENSP00000283256:A467T	A	+	1	0	SCN2A	165880242	0.994000	0.37717	0.746000	0.31095	0.313000	0.28021	3.124000	0.50461	1.496000	0.48567	0.650000	0.86243	GCA	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Missense_Mutation	SNP	2 : 166171996 - 166171996 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	421	11
SCN4A	6329	broad.mit.edu	37	17	62018160	62018160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:62018160G>A	ENST00000578147.1	-	24	5558	c.5482C>T	c.(5482-5484)Cgc>Tgc	p.R1828C	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1828C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACACCTGGGCGCACAGTCTGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	46	43			NA	NA	17		NA											NA				62018160		2050	4192	6242	SO:0001583	missense			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.5482C>T	17.37:g.62018160G>A	ENSP00000463963:p.Arg1828Cys	NA	Q15478|Q16447|Q7Z6B1	37		.	.	.	.	.	.	.	.	.	.	G	10.73	1.433830	0.25813	.	.	ENSG00000007314	ENST00000435607	D	0.96619	-4.07	4.32	3.33	0.38152	.	1.836130	0.02649	N	0.106191	D	0.90721	0.7088	N	0.08118	0	0.39747	D	0.971837	B	0.12630	0.006	B	0.04013	0.001	T	0.81623	-0.0849	10	0.52906	T	0.07	.	4.8736	0.13646	0.1119:0.0:0.6728:0.2154	.	1828	P35499	SCN4A_HUMAN	C	1828	ENSP00000396320:R1828C	ENSP00000396320:R1828C	R	-	1	0	SCN4A	59371892	0.936000	0.31750	0.992000	0.48379	0.021000	0.10359	1.458000	0.35223	1.143000	0.42306	0.561000	0.74099	CGC	SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Missense_Mutation	SNP	17 : 62018160 - 62018160 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	272	5
SDCCAG8	10806	broad.mit.edu	37	1	243456473	243456473	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000391846.1_Silent_p.D209D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	209					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTCCCATGACAATGCAGATT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	1		NA											NA				243456473		2203	4300	6503	SO:0001819	synonymous_variant			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282	10806	10806			10671	protein-coding gene	gene with protein product		613524			NA	9610721, 20835237	Standard	NM_006642	NM_006642	NA	Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.627C>T	1.37:g.243456473C>T		NA	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	37	CCDS31075.1																																																																																			SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096485.1		+	ENST00000366541.3	Silent	SNP	1 : 243456473 - 243456473 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	387	7
SHANK2	22941	broad.mit.edu	37	11	70332638	70332638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:70332638G>A	ENST00000409161.1	-	9	1971	c.1972C>T	c.(1972-1974)Cgg>Tgg	p.R658W	SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1255W|SHANK2_ENST00000423696.2_Missense_Mutation_p.R875W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	875					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGCTGGGCCGCATTTTGGTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	89	86			NA	NA	11		NA											NA				70332638		2200	4294	6494	SO:0001583	missense			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.1972C>T	11.37:g.70332638G>A	ENSP00000386491:p.Arg658Trp	NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37		.	.	.	.	.	.	.	.	.	.	G	13.50	2.255722	0.39896	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	4.88	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.56372	-0.7990	10	0.87932	D	0	.	12.6585	0.56801	0.0:0.0:0.5831:0.4169	.	875;1254;659	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	W	659;658;533;1255;875;893;878	ENSP00000399423:R659W;ENSP00000386491:R658W;ENSP00000402944:R533W;ENSP00000345193:R1255W;ENSP00000394536:R875W;ENSP00000294018:R878W	ENSP00000294018:R878W	R	-	1	2	SHANK2	70010286	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.409000	0.52657	1.026000	0.39733	-0.310000	0.09108	CGG	SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Missense_Mutation	SNP	11 : 70332638 - 70332638 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	709	6
SLC19A1	6573	broad.mit.edu	37	21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000380010.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000311124.4_Missense_Mutation_p.A200T	NM_001205206.1	NP_001192135.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	200					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGGAAGAGGGCGAGGACCACG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	48	51			NA	NA	21		NA											NA				46951654		2200	4299	6499	SO:0001583	missense			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638	6573	6573		Solute carriers	10937	protein-coding gene	gene with protein product		600424			NA	9570943	Standard		NM_194255	NA	Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000380010.4:c.598G>A	21.37:g.46951654C>T	ENSP00000369347:p.Ala200Thr	NA	B2R7U8|O00553|O60227|Q13026	37	CCDS56218.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510194	0.44660	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	T;T;T	0.81330	-1.48;-1.48;-1.48	4.62	-5.28	0.02755	Major facilitator superfamily domain, general substrate transporter (1);	0.404697	0.27544	N	0.018889	T	0.60830	0.2299	L	0.35288	1.05	0.25111	N	0.990718	P;P;B;P	0.35481	0.504;0.504;0.262;0.504	B;B;B;B	0.33960	0.173;0.058;0.019;0.032	T	0.55029	-0.8204	10	0.33940	T	0.23	-15.7351	5.7407	0.18092	0.2584:0.1321:0.0:0.6095	.	160;222;200;200	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	200;200;160	ENSP00000308895:A200T;ENSP00000369347:A200T;ENSP00000441772:A160T	ENSP00000308895:A200T	A	-	1	0	SLC19A1	45776082	0.012000	0.17670	0.172000	0.22920	0.879000	0.50718	-0.237000	0.08990	-0.965000	0.03591	0.306000	0.20318	GCC	SLC19A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206797.1		-	ENST00000380010.4	Missense_Mutation	SNP	21 : 46951654 - 46951654 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	101	55
SMAD4	4089	broad.mit.edu	37	18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	ACTT	ACTT	-	-	ACTT	ACTT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000588745.1	+	8	1295_1298	c.1295_1298delACTT	c.(1294-1299)cacttafs	p.HL432fs	SMAD4_ENST00000342988.3_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs			Q13485	SMAD4_HUMAN	SMAD family member 4	528	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTGAAATTCACTTACACCGGGCC	0.495		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.1295_1298delACTT	18.37:g.48604761_48604764delACTT	ENSP00000464901:p.His432fs	NA	A8K405	37	CCDS11950.1																																																																																			SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Frame_Shift_Del	DEL	18 : 48604761 - 48604764 - PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	348	172
SMG8	55181	broad.mit.edu	37	17	57288528	57288528	+	Silent	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:57288528C>A	ENST00000543872.2	+	2	1380	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P	SMG8_ENST00000300917.5_Silent_p.P372P|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	372					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCCTGCACCCCTTTCTGGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	77	81			NA	NA	17		NA											NA				57288528		2203	4300	6503	SO:0001819	synonymous_variant			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21			55181	55181			25551	protein-coding gene	gene with protein product		613175	chromosome 17 open reading frame 71, smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)	C17orf71	NA	19417104	Standard	NM_018149	NM_018149	NA	Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1116C>A	17.37:g.57288528C>A		NA	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	37	CCDS11615.1																																																																																			SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445960.2		+	ENST00000543872.2	Silent	SNP	17 : 57288528 - 57288528 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	278	5
SPATA31D1	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:84608089A>T	ENST00000344803.2	+	4	2751	c.2704A>T	c.(2704-2706)Atg>Ttg	p.M902L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA								p.M902V(2)			NA						CAAACAAAAGATGTTGGAAGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	urinary_tract(2)											62	55	57			NA	NA	9		NA											NA				84608089		1842	4082	5924	SO:0001583	missense				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2704A>T	9.37:g.84608089A>T	ENSP00000341988:p.Met902Leu	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373764	0.24857	.	.	ENSG00000214929	ENST00000344803	T	0.50277	0.75	3.45	0.803	0.18691	.	2.229840	0.01569	N	0.020485	T	0.47192	0.1432	M	0.70275	2.135	0.09310	N	1	B	0.24882	0.113	B	0.24541	0.054	T	0.12967	-1.0527	10	0.38643	T	0.18	2.7162	3.9728	0.09460	0.5691:0.2193:0.0:0.2116	.	902	Q6ZQQ2	F75D1_HUMAN	L	902	ENSP00000341988:M902L	ENSP00000341988:M902L	M	+	1	0	FAM75D1	83797909	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.681000	0.05191	0.052000	0.16007	0.529000	0.55759	ATG	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Missense_Mutation	SNP	9 : 84608089 - 84608089 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	267	89
STAU1	6780	broad.mit.edu	37	20	47741012	47741012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:47741012G>A	ENST00000371856.2	-	7	1132	c.722C>T	c.(721-723)gCc>gTc	p.A241V	STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371828.3_Missense_Mutation_p.A166V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	241	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGCTATGGCGGCATTTTTCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	174	168			NA	NA	20		NA											NA				47741012		2203	4300	6503	SO:0001583	missense				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214	6780	6780			11370	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 150	601716	staufen (Drosophila, RNA-binding protein), staufen, RNA binding protein (Drosophila), staufen, RNA binding protein, homolog 1 (Drosophila)	STAU	NA	8884277, 15680326	Standard	NM_017453	XM_005260524	NA	Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.722C>T	20.37:g.47741012G>A	ENSP00000360922:p.Ala241Val	NA	A8K9Z4|E1P5Y1|E1P608|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303436	0.95601	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99357	1.0916	10	0.87932	D	0	-10.9603	19.0449	0.93015	0.0:0.0:1.0:0.0	.	241;166	O95793;Q5JW29	STAU1_HUMAN;.	V	166;160;241;160;160;160;166;160;166	ENSP00000360893:A166V;ENSP00000345425:A160V;ENSP00000360922:A241V;ENSP00000353604:A160V;ENSP00000323443:A160V;ENSP00000360867:A166V;ENSP00000360857:A160V;ENSP00000416779:A166V	ENSP00000345425:A160V	A	-	2	0	STAU1	47174419	1.000000	0.71417	0.616000	0.29078	0.694000	0.40290	9.864000	0.99589	2.492000	0.84095	0.650000	0.86243	GCC	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079633.1		-	ENST00000371856.2	Missense_Mutation	SNP	20 : 47741012 - 47741012 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	842	7
TACC2	10579	broad.mit.edu	37	10	123843041	123843041	+	Silent	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:123843041G>A	ENST00000369005.1	+	4	1366	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P342P|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	342						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATATCTGCCGCACGCAGAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	37	35			NA	NA	10		NA											NA				123843041		2199	4297	6496	SO:0001819	synonymous_variant			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1026G>A	10.37:g.123843041G>A		NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1																																																																																			TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Silent	SNP	10 : 123843041 - 123843041 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	488	5
TAF4	6874	broad.mit.edu	37	20	60551330	60551330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:60551330G>A	ENST00000252996.4	-	15	3151	c.3152C>T	c.(3151-3153)aCg>aTg	p.T1051M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTTTGTCGCGTGAACTGTCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	111	108			NA	NA	20		NA											NA				60551330		2203	4300	6503	SO:0001583	missense			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699	6874	6874			11537	protein-coding gene	gene with protein product		601796	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD	TAF4A, TAF2C1, TAF2C	NA	8942982, 9192867	Standard	NM_003185	NM_003185	NA	Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3152C>T	20.37:g.60551330G>A	ENSP00000252996:p.Thr1051Met	NA	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689456	0.29962	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.24723	1.84;1.84	5.35	5.35	0.76521	Transcription initiation factor TFIID component TAF4 (1);	0.150930	0.64402	D	0.000020	T	0.26268	0.0641	L	0.38175	1.15	0.54753	D	0.999984	D	0.53745	0.962	B	0.43360	0.417	T	0.01390	-1.1367	10	0.36615	T	0.2	-7.1837	19.0436	0.93011	0.0:0.0:1.0:0.0	.	1051	O00268	TAF4_HUMAN	M	1051;915	ENSP00000252996:T1051M;ENSP00000399091:T915M	ENSP00000252996:T1051M	T	-	2	0	TAF4	59984725	1.000000	0.71417	0.970000	0.41538	0.116000	0.19942	5.155000	0.64900	2.496000	0.84212	0.655000	0.94253	ACG	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079968.2		-	ENST00000252996.4	Missense_Mutation	SNP	20 : 60551330 - 60551330 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	985	6
TG	7038	broad.mit.edu	37	8	133883773	133883773	+	Missense_Mutation	SNP	G	G	A	rs114781869	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:133883773G>A	ENST00000220616.4	+	4	495	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TG_ENST00000377869.1_Missense_Mutation_p.R152H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	152	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATGGGACCCGCCAGCTGGGG	0.592		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0								G	HIS/ARG	0,4406		0,0,2203	96	71	79		455	5.6	1	8	dbSNP_132	79	7,8593	5.0+/-18.6	0,7,4293	yes	missense	TG	NM_003235.4	29	0,7,6496	AA,AG,GG	NA	0.0814,0.0,0.0538	probably-damaging	152/2769	133883773	7,12999	2203	4300	6503	SO:0001583	missense			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832	7038	7038			11764	protein-coding gene	gene with protein product		188450			NA		Standard	NM_003235	NM_003235	NA	Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.455G>A	8.37:g.133883773G>A	ENSP00000220616:p.Arg152His	NA	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	37	CCDS34944.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.9	4.586360	0.86851	0.0	8.14E-4	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.68479	-0.33;-0.33	5.58	5.58	0.84498	Thyroglobulin type-1 (5);	0.000000	0.64402	D	0.000010	D	0.84275	0.5436	M	0.87381	2.88	0.44142	D	0.996932	D	0.89917	1.0	D	0.85130	0.997	D	0.86737	0.1952	10	0.87932	D	0	.	16.7298	0.85432	0.0:0.0:1.0:0.0	.	152	P01266	THYG_HUMAN	H	152	ENSP00000367100:R152H;ENSP00000220616:R152H	ENSP00000220616:R152H	R	+	2	0	TG	133952955	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	8.942000	0.92970	2.630000	0.89119	0.460000	0.39030	CGC	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379606.1		+	ENST00000220616.4	Missense_Mutation	SNP	8 : 133883773 - 133883773 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	318	118
TLN2	83660	broad.mit.edu	37	15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	1323					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.S1323Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGCCAAGTCTCTCTCTGTA	0.493		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)											84	75	78			NA	NA	15		NA											NA				63032911		2203	4300	6503	SO:0001583	missense			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3968C>T	15.37:g.63032911C>T	ENSP00000453508:p.Ser1323Phe	NA	A6NLB8	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126628	0.56721	.	.	ENSG00000171914	ENST00000306829	T	0.14893	2.47	5.87	5.87	0.94306	.	0.094038	0.85682	D	0.000000	T	0.20820	0.0501	L	0.49126	1.545	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.04281	-1.0963	10	0.23302	T	0.38	-13.3132	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1323	Q9Y4G6	TLN2_HUMAN	F	1323	ENSP00000303476:S1323F	ENSP00000303476:S1323F	S	+	2	0	TLN2	60820203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.941000	0.99782	0.655000	0.94253	TCT	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Missense_Mutation	SNP	15 : 63032911 - 63032911 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	291	70
TMEM117	84216	broad.mit.edu	37	12	44782362	44782362	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	484						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCCACCTAACCTCGGAAAACT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	159	161			NA	NA	12		NA											NA				44782362		2203	4300	6503	SO:0001819	synonymous_variant			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173	84216	84216			25308	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032256	NM_001286211	NA	Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1452C>T	12.37:g.44782362C>T		NA		37	CCDS8745.1																																																																																			TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403969.1		+	ENST00000266534.3	Silent	SNP	12 : 44782362 - 44782362 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	804	296
TMEM140	55281	broad.mit.edu	37	7	134849251	134849251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.3	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	NA						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	140	148			NA	NA	7		NA											NA				134849251		2203	4300	6503	SO:0001583	missense			AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859	55281	55281			21870	protein-coding gene	gene with protein product					NA		Standard	NM_018295	NM_018295	NA	Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.58C>A	7.37:g.134849251C>A	ENSP00000275767:p.Leu20Ile	NA	A4D1P9|Q8WUC3	37	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360163	0.41801	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.19938	2.11	5.68	3.88	0.44766	.	0.680771	0.13146	N	0.410298	T	0.23965	0.0580	L	0.59436	1.845	0.09310	N	1	P	0.51351	0.944	B	0.44108	0.441	T	0.08066	-1.0740	10	0.40728	T	0.16	-9.2845	9.0526	0.36385	0.0:0.763:0.157:0.08	.	20	Q9NV12	TM140_HUMAN	I	20	ENSP00000275767:L20I	ENSP00000275767:L20I	L	+	1	0	TMEM140	134499791	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.428000	0.21395	0.741000	0.32674	0.563000	0.77884	CTC	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340017.2		+	ENST00000275767.3	Missense_Mutation	SNP	7 : 134849251 - 134849251 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	584	5
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000341037.4	-	22	5668	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000350763.4_Missense_Mutation_p.R2029H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H			P24821	TENA_HUMAN	tenascin C	2029	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCGTTTTTGCGTCTCAGGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	150	156			NA	NA	9		NA											NA				117791722		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.5540G>A	9.37:g.117791722C>T	ENSP00000339553:p.Arg1847His	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	C	33	5.217894	0.95104	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.98936	4.375	0.44275	D	0.99713	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97749	1.0213	10	0.87932	D	0	.	19.3449	0.94359	0.0:1.0:0.0:0.0	.	1756;2029	E9PC84;P24821	.;TENA_HUMAN	H	1665;1574;1483;1392;2029;1847;1756;1392;1666	ENSP00000344400:R1665H;ENSP00000438152:R1574H;ENSP00000344555:R1483H;ENSP00000345861:R1392H;ENSP00000265131:R2029H;ENSP00000339553:R1847H;ENSP00000411406:R1756H;ENSP00000443478:R1392H;ENSP00000442242:R1666H	ENSP00000344400:R1665H	R	-	2	0	TNC	116831543	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.363000	0.79516	2.587000	0.87381	0.655000	0.94253	CGC	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117791722 - 117791722 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	548	6
TOX2	84969	broad.mit.edu	37	20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q|TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCTCGCCCGGACGCTGGGC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	20		NA											NA				42694515		2203	4298	6501	SO:0001583	missense			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1070G>A	20.37:g.42694515G>A	ENSP00000350849:p.Arg357Gln	NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536841	0.45176	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.14766	2.72;2.73;2.73;2.57;2.48	5.11	4.16	0.48862	.	0.000000	0.39687	N	0.001299	T	0.22003	0.0530	L	0.37850	1.14	0.45946	D	0.998777	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.77557	0.968;0.99;0.978;0.978	T	0.03576	-1.1023	10	0.07325	T	0.83	.	12.5979	0.56481	0.0818:0.0:0.9182:0.0	.	253;375;357;333	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	Q	375;333;333;357;253	ENSP00000344724:R375Q;ENSP00000390278:R333Q;ENSP00000362090:R333Q;ENSP00000350849:R357Q;ENSP00000396777:R253Q	ENSP00000344724:R375Q	R	+	2	0	TOX2	42127929	1.000000	0.71417	0.998000	0.56505	0.161000	0.22273	5.322000	0.65852	1.282000	0.44496	-0.136000	0.14681	CGG	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Missense_Mutation	SNP	20 : 42694515 - 42694515 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	586	211
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139	108	118			NA	NA	17		NA											NA				7577559		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.722C>T	17.37:g.7577559G>A	ENSP00000391127:p.Ser241Phe	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577559 - 7577559 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	271	138
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	220	225			NA	NA	21		NA											NA				10969096		2203	4300	6503	SO:0001583	missense			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391	7179	7179		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs	12023	protein-coding gene	gene with protein product	PTEN-related tyrosine phosphatase, cancer/testis antigen 44	604336			NA	10830953, 14659893	Standard		NM_001290224	NA	Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.152G>A	21.37:g.10969096C>T	ENSP00000355208:p.Arg51Gln	NA	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	4.078	0.012302	0.07912	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94687	-3.49	0.558	-1.12	0.09808	.	0.602094	0.13783	U	0.363084	T	0.81880	0.4916	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63484	-0.6627	9	0.21540	T	0.41	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	Q	51;33	ENSP00000355208:R51Q	ENSP00000399471:R33Q	R	-	2	0	TPTE	9990967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-2.672000	0.00413	-2.396000	0.00226	CGG	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157413.1		-	ENST00000361285.4	Missense_Mutation	SNP	21 : 10969096 - 10969096 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	1052	241
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000509967.2_Missense_Mutation_p.A253V|TRIO_ENST00000537187.1_Missense_Mutation_p.A302V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	76	75			NA	NA	5		NA											NA				14291189		2203	4300	6503	SO:0001583	missense			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.905C>T	5.37:g.14291189C>T	ENSP00000339299:p.Ala302Val	NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671920	0.47781	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.42900	0.96;0.96;0.96	5.19	4.32	0.51571	.	0.176109	0.49305	N	0.000157	T	0.63010	0.2475	M	0.73598	2.24	0.54753	D	0.999988	D;D	0.89917	1.0;0.977	D;P	0.75020	0.985;0.532	T	0.66716	-0.5853	10	0.59425	D	0.04	.	13.6293	0.62186	0.0:0.9251:0.0:0.0749	.	253;302	F5H228;O75962	.;TRIO_HUMAN	V	302;302;253	ENSP00000339299:A302V;ENSP00000446348:A302V;ENSP00000445592:A253V	ENSP00000339299:A302V	A	+	2	0	TRIO	14344189	0.998000	0.40836	0.222000	0.23844	0.711000	0.40976	3.886000	0.56190	1.205000	0.43262	0.462000	0.41574	GCG	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Missense_Mutation	SNP	5 : 14291189 - 14291189 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	486	5
TRPV4	59341	broad.mit.edu	37	12	110236628	110236628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:110236628G>A	ENST00000418703.2	-	5	1037	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	315			R -> W (in CMT2C).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTGGCGCCGCATGTCCGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	76	82			NA	NA	12		NA											NA				110236628		2203	4300	6503	SO:0001583	missense			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199	59341	59341		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	18083	protein-coding gene	gene with protein product	osmosensitive transient receptor potential channel 4	605427			NA	11025659, 11081638, 16382100, 20037587	Standard	NM_021625	NM_147204	NA	Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.943C>T	12.37:g.110236628G>A	ENSP00000406191:p.Arg315Trp	NA	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751278	0.69533	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	4.37	2.43	0.29744	Ankyrin repeat-containing domain (3);	0.055968	0.64402	D	0.000001	T	0.79370	0.4434	L	0.59967	1.855	0.33765	D	0.622362	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;P;D;P;P	0.76575	0.988;0.899;0.985;0.827;0.863	D	0.84213	0.0457	10	0.66056	D	0.02	-17.2861	12.0415	0.53456	0.0:0.0:0.6756:0.3244	.	315;315;268;268;281	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	W	315;315;268;315;268;315;268;281	ENSP00000406191:R315W;ENSP00000261740:R315W;ENSP00000376480:R268W;ENSP00000319003:R315W;ENSP00000443611:R268W;ENSP00000442738:R315W;ENSP00000442167:R268W;ENSP00000444336:R281W	ENSP00000261740:R315W	R	-	1	2	TRPV4	108721011	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.154000	0.58125	0.525000	0.28522	0.655000	0.94253	CGG	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403270.1		-	ENST00000418703.2	Missense_Mutation	SNP	12 : 110236628 - 110236628 A PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	444	5
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000603338.2_Silent_p.H617H|TSHZ2_ENST00000329613.6_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	20		NA											NA				51871857		2203	4300	6503	SO:0001819	synonymous_variant			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	128553	128553		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	13010	protein-coding gene	gene with protein product		614118	chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2	C20orf17, ZNF218	NA	9671742	Standard	NM_173485	NM_173485	NA	Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1860C>T	20.37:g.51871857C>T		NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1																																																																																			TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Silent	SNP	20 : 51871857 - 51871857 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	633	210
TTN	7273	broad.mit.edu	37	2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000589042.1	-	326	74797	c.74573T>A	c.(74572-74574)aTt>aAt	p.I24858N	TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I23217N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23217	Fibronectin type-III 81.						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)			AGCTGATACAATTTGCCAGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	75	79			NA	NA	2		NA											NA				179436286		1877	4115	5992	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.74573T>A	2.37:g.179436286A>T	ENSP00000467141:p.Ile24858Asn	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674275	0.29693	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53786	0.1818	N	0.14661	0.345	0.51482	D	0.999922	D;D;D;D	0.58970	0.984;0.984;0.984;0.97	P;P;P;P	0.58331	0.837;0.837;0.837;0.828	T	0.61535	-0.7043	9	0.87932	D	0	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	15793;15918;15985;23217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22290;15793;15985;15918;15791	ENSP00000343764:I22290N;ENSP00000434586:I15793N;ENSP00000340554:I15985N;ENSP00000352154:I15918N	ENSP00000340554:I15985N	I	-	2	0	TTN	179144532	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.251000	0.78297	2.261000	0.74972	0.528000	0.53228	ATT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179436286 - 179436286 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	188	62
USH2A	7399	broad.mit.edu	37	1	215933091	215933091	+	Silent	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000307340.3	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000366943.2_Silent_p.Q3714Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3714	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAATTGATATTGAGAAACGA	0.428		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	107	109			NA	NA	1		NA											NA				215933091		2203	4300	6503	SO:0001819	synonymous_variant			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11142A>G	1.37:g.215933091T>C		NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1																																																																																			USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Silent	SNP	1 : 215933091 - 215933091 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	464	119
WWC3	55841	broad.mit.edu	37	X	10090747	10090747	+	Silent	SNP	C	C	T			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:10090747C>T	ENST00000380861.4	+	12	2110	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	WWC3_ENST00000454666.1_Silent_p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	573										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCTAGCCAGCGACAGTGGGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													256	235	242			NA	NA	X		NA											NA				10090747		2203	4300	6503	SO:0001819	synonymous_variant			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644	55841	55841		WW, C2 and coiled-coil domain containing	29237	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_015691	NM_015691	NA	Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1719C>T	X.37:g.10090747C>T		NA	A8KA96|Q659C1|Q9BTQ1	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159648	0.06544	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-3.99	0.04069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7804	15.226	0.73352	0.0:0.1046:0.0:0.8954	.	.	.	.	X	578	.	.	R	+	1	2	WWC3	10050747	0.915000	0.31059	0.002000	0.10522	0.277000	0.26821	-0.063000	0.11655	-0.854000	0.04131	-0.198000	0.12761	CGA	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055725.1		+	ENST00000380861.4	Silent	SNP	X : 10090747 - 10090747 T PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	881	7
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	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-IB-A5SP-Tumor-SM-4WPAH	625	6
ZMAT1	84460	broad.mit.edu	37	X	101138639	101138639	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:101138639T>C	ENST00000372782.3	-	7	1807	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	416						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAACTGACCTTGACTCTATC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	193	206			NA	NA	X		NA											NA				101138639		2203	4300	6503	SO:0001583	missense			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432	84460	84460		Zinc fingers, matrin-type	29377	protein-coding gene	gene with protein product					NA		Standard		NM_001011657	NA	Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1760A>G	X.37:g.101138639T>C	ENSP00000361868:p.Lys587Arg	NA		37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.914913	0.00503	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23552	2.48;2.48;1.9	3.75	1.02	0.19986	.	1.153020	0.06414	N	0.721174	T	0.06917	0.0176	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32534	-0.9903	10	0.06099	T	0.92	2.4748	7.3368	0.26615	0.0:0.6725:0.0:0.3275	.	587	Q5H9K5	ZMAT1_HUMAN	R	587;587;416	ENSP00000361868:K587R;ENSP00000437529:K587R;ENSP00000413044:K416R	ENSP00000361868:K587R	K	-	2	0	ZMAT1	101025295	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	0.140000	0.16056	0.077000	0.16863	-0.296000	0.09543	AAG	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057598.1		-	ENST00000372782.3	Missense_Mutation	SNP	X : 101138639 - 101138639 C PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	313	7
ZNF441	126068	broad.mit.edu	37	19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATAAATGTAAACAATGTGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	38			NA	NA	19		NA											NA				11891903		2203	4300	6503	SO:0001583	missense			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044	126068	126068		Zinc fingers, C2H2-type, -	20875	protein-coding gene	gene with protein product					NA		Standard	NM_152355	NM_152355	NA	Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1264A>G	19.37:g.11891903A>G	ENSP00000350576:p.Lys422Glu	NA		37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	15.89	2.966344	0.53507	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.08370	3.1;3.1	1.22	0.166	0.14999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.12611	0.24	0.09310	N	0.999999	B	0.28291	0.206	B	0.34418	0.182	T	0.44174	-0.9345	9	0.25751	T	0.34	.	0.0939	0.00042	0.3319:0.241:0.1882:0.239	.	422	Q8N8Z8	ZN441_HUMAN	E	378;422;355	ENSP00000350576:K422E;ENSP00000403738:K355E	ENSP00000350576:K422E	K	+	1	0	ZNF441	11752903	0.000000	0.05858	0.122000	0.21767	0.980000	0.70556	-4.770000	0.00188	-0.007000	0.14345	0.254000	0.18369	AAA	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335273.3		+	ENST00000357901.4	Missense_Mutation	SNP	19 : 11891903 - 11891903 G PAAD-TCGA-IB-A5SP-Tumor-SM-4WPAH	215	84
