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
ABCC11	85320	broad.mit.edu	37	16	48248799	48248799	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:48248799G>A	ENST00000394747.1	-	8	1590	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	414	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TACCATTGACGCTGTGAGTTT	0.493		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				0													124	103	110			NA	NA	16		NA											NA				48248799		2201	4300	6501	SO:0001583	missense			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270	85320	85320		ATP binding cassette transporters / subfamily C	14639	protein-coding gene	gene with protein product		607040			NA	11483364, 11435397	Standard	NM_032583	NM_033151	NA	Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1241C>T	16.37:g.48248799G>A	ENSP00000378230:p.Ala414Val	NA	Q8TDJ0|Q96JA6|Q9BX80	37	CCDS10732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.924986	0.34002	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.95	2.93	0.34026	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.956055	0.08704	N	0.905962	D	0.88112	0.6349	L	0.42744	1.35	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.16722	0.001;0.016	T	0.76680	-0.2870	10	0.48119	T	0.1	0.4302	7.1914	0.25828	0.2178:0.0:0.7822:0.0	.	414;414	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	414	ENSP00000311326:A414V;ENSP00000349017:A414V;ENSP00000378231:A414V;ENSP00000378230:A414V;ENSP00000438530:A414V	ENSP00000311326:A414V	A	-	2	0	ABCC11	46806300	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.029000	0.41098	0.454000	0.26884	0.650000	0.86243	GCG	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000429984.1		-	ENST00000394747.1	Missense_Mutation	SNP	16 : 48248799 - 48248799 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	233	32
AGAP5	729092	broad.mit.edu	37	10	75451817	75451817	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75451817C>A	ENST00000443782.2	-	3	436	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP5_ENST00000374094.4_Missense_Mutation_p.S127I|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGTACAGTTGCTTCTTCTTAT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	15	15			NA	NA	10		NA											NA				75451817		688	1544	2232	SO:0001583	missense				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650	729092	729092		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	23467	protein-coding gene	gene with protein product			centaurin, gamma-like family, member 2	CTGLF2	NA		Standard	XM_001132585	NM_001144000	NA	Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000443782.2:c.311G>T	10.37:g.75451817C>A	ENSP00000402792:p.Ser104Ile	NA	A8MSN5	37		.	.	.	.	.	.	.	.	.	.	-	10.74	1.435480	0.25813	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88354	-2.37;-2.37	1.7	1.7	0.24286	.	0.278236	0.34555	N	0.003870	D	0.85435	0.5696	M	0.77103	2.36	0.22253	N	0.999252	P	0.37015	0.578	B	0.30716	0.119	T	0.79577	-0.1746	10	0.59425	D	0.04	.	9.4009	0.38431	0.0:1.0:0.0:0.0	.	127	A6NIR3	AGAP5_HUMAN	I	127;104	ENSP00000363207:S127I;ENSP00000402792:S104I	ENSP00000363207:S127I	S	-	2	0	AGAP5	75121823	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	1.476000	0.35420	1.256000	0.44068	0.184000	0.17185	AGC	AGAP5-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000048673.1		-	ENST00000443782.2	Missense_Mutation	SNP	10 : 75451817 - 75451817 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	369	6
AIMP1	9255	broad.mit.edu	37	4	107252827	107252827	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:107252827A>G	ENST00000394701.4	+	5	504		c.e5-1		AIMP1_ENST00000442366.1_Splice_Site|AIMP1_ENST00000358008.3_Splice_Site	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	NA					angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AATACTTTTTAGGAGAGAAGA	0.358		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	4		NA											NA				107252827		2200	4298	6498	SO:0001630	splice_region_variant			U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022	9255	9255			10648	protein-coding gene	gene with protein product	EMAP II, ARS-interacting multifunctional protein 1	603605	small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)	SCYE1	NA	7929199, 7545917	Standard	NM_004757	NM_004757	NA	Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000394701.4:c.464-1A>G	4.37:g.107252827A>G		NA	B3KTR2|B4E1S7|Q6FG28|Q96CQ9	37	CCDS47121.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124201	0.37533	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1091	0.72340	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIMP1	107472276	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	5.339000	0.65953	1.979000	0.57680	0.528000	0.53228	.	AIMP1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253960.2	Intron	+	ENST00000394701.4	Splice_Site	SNP	4 : 107252827 - 107252827 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	311	5
ALB	213	broad.mit.edu	37	4	74283893	74283893	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:74283893T>C	ENST00000503124.1	+	10	1274	c.1067T>C	c.(1066-1068)gTg>gCg	p.V356A	ALB_ENST00000401494.3_Missense_Mutation_p.V391A|ALB_ENST00000295897.4_Missense_Mutation_p.V506A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A			P02768	ALBU_HUMAN	albumin	506	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GAATCCTTGGTGAACAGGCGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	4		NA											NA				74283893		2203	4300	6503	SO:0001583	missense			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631	213	213			399	protein-coding gene	gene with protein product		103600			NA	6292049, 6192711	Standard	NM_000477	NM_000477	NA	Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1067T>C	4.37:g.74283893T>C	ENSP00000421027:p.Val356Ala	NA	O95574|P04277|Q13140|Q645G4|Q68DN5|Q6UXK4|Q86YG0|Q9P157|Q9P1I7|Q9UHS3|Q9UJZ0	37		.	.	.	.	.	.	.	.	.	.	T	0.009	-1.808861	0.00606	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.94	2.26	0.28386	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.507607	0.19058	N	0.123858	T	0.34048	0.0884	N	0.12471	0.22	0.28162	N	0.928932	B;B;B;B;B	0.23128	0.08;0.001;0.006;0.001;0.002	B;B;B;B;B	0.31495	0.131;0.034;0.069;0.017;0.034	T	0.33317	-0.9873	10	0.87932	D	0	-9.8227	7.1945	0.25845	0.0:0.3801:0.0:0.6199	.	391;314;356;506;506	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	A	506;314;293;356;506;391;515	ENSP00000295897:V506A;ENSP00000401820:V314A;ENSP00000421027:V356A;ENSP00000422784:V506A;ENSP00000384695:V391A	ENSP00000295897:V506A	V	+	2	0	ALB	74502757	0.993000	0.37304	0.762000	0.31397	0.006000	0.05464	1.347000	0.33975	0.503000	0.28060	-0.297000	0.09499	GTG	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365419.1		+	ENST00000503124.1	Missense_Mutation	SNP	4 : 74283893 - 74283893 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	633	89
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:38502605G>A	ENST00000356264.2	-	10	1073	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AMPH_ENST00000428293.2_Silent_p.P286P|AMPH_ENST00000325590.5_Silent_p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	162	152	155		858,858	-4.6	1	7		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	286/696,286/654	38502605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053	273	273			471	protein-coding gene	gene with protein product		600418	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)		NA	8245793	Standard	NM_001635	NM_139316	NA	Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.858C>T	7.37:g.38502605G>A		NA	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713694	0.15306	0.0	1.16E-4	ENSG00000078053	ENST00000441628	.	.	.	6.17	-4.56	0.03431	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37502	-0.9703	4	.	.	.	-16.034	1.5039	0.02482	0.2196:0.2615:0.324:0.1949	.	.	.	.	C	37	.	.	R	-	1	0	AMPH	38469130	0.005000	0.15991	0.968000	0.41197	0.560000	0.35617	-1.526000	0.02229	-0.560000	0.06102	-1.202000	0.01658	CGC	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226953.2		-	ENST00000356264.2	Silent	SNP	7 : 38502605 - 38502605 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	418	68
ARHGAP21	57584	broad.mit.edu	37	10	24908567	24908567	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:24908567G>A	ENST00000396432.2	-	9	2743	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	752					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TAAGACTGATGCCTTAAAGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	10		NA											NA				24908567		2203	4300	6503	SO:0001583	missense			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863	57584	57584		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	23725	protein-coding gene	gene with protein product		609870			NA	12056806	Standard	NM_020824	NM_020824	NA	Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2257C>T	10.37:g.24908567G>A	ENSP00000379709:p.His753Tyr	NA	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307576	0.81247	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.1	5.1	0.69264	.	0.162808	0.53938	D	0.000044	T	0.64560	0.2609	M	0.70595	2.14	0.42876	D	0.994156	D;D	0.64830	0.989;0.994	P;P	0.57152	0.814;0.656	T	0.67925	-0.5544	10	0.54805	T	0.06	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	743;752	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	753;540;743;753;588	ENSP00000379709:H753Y;ENSP00000365604:H540Y;ENSP00000365592:H743Y;ENSP00000405018:H753Y	ENSP00000365604:H540Y	H	-	1	0	ARHGAP21	24948573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.509000	0.84616	0.655000	0.94253	CAT	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047229.4		-	ENST00000396432.2	Missense_Mutation	SNP	10 : 24908567 - 24908567 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	651	91
ARHGAP31	57514	broad.mit.edu	37	3	119121031	119121031	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:119121031C>T	ENST00000264245.4	+	10	1964	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	478					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCTCGCCGCGTAACCAGCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													66	75	72			NA	NA	3		NA											NA				119121031		2071	4213	6284	SO:0001583	missense				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1432C>T	3.37:g.119121031C>T	ENSP00000264245:p.Arg478Cys	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250570	0.80135	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.12879	2.64	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.26882	0.0658	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.00544	-1.1679	10	0.87932	D	0	.	13.1802	0.59649	0.1592:0.8408:0.0:0.0	.	478	Q2M1Z3	RHG31_HUMAN	C	478	ENSP00000264245:R478C	ENSP00000264245:R478C	R	+	1	0	ARHGAP31	120603721	0.997000	0.39634	0.444000	0.26895	0.924000	0.55760	3.505000	0.53356	2.774000	0.95407	0.655000	0.94253	CGT	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119121031 - 119121031 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	485	69
ATAD2	29028	broad.mit.edu	37	8	124348628	124348628	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124348628C>G	ENST00000521903.1	-	23	3533	c.1150G>C	c.(1150-1152)Gat>Cat	p.D384H	ATAD2_ENST00000287394.5_Missense_Mutation_p.D1066H			Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.D1066Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATCTCTATCTGGATTGTAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											73	71	72			NA	NA	8		NA											NA				124348628		2203	4299	6502	SO:0001583	missense			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802	29028	29028		ATPases / AAA-type	30123	protein-coding gene	gene with protein product		611941			NA	12477932	Standard	NM_014109	NM_014109	NA	Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000521903.1:c.1150G>C	8.37:g.124348628C>G	ENSP00000429213:p.Asp384His	NA	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.066390	0.76187	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.29917	1.55;1.55	5.89	5.89	0.94794	Bromodomain (5);	0.507344	0.17654	U	0.166599	T	0.55641	0.1933	M	0.78223	2.4	0.58432	D	0.999999	D	0.55385	0.971	P	0.56398	0.797	T	0.56992	-0.7887	10	0.72032	D	0.01	-27.5249	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1066	Q6PL18	ATAD2_HUMAN	H	1066;384	ENSP00000287394:D1066H;ENSP00000429213:D384H	ENSP00000287394:D1066H	D	-	1	0	ATAD2	124417809	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT	ATAD2-002	PUTATIVE	upstream_uORF|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381767.2		-	ENST00000521903.1	Missense_Mutation	SNP	8 : 124348628 - 124348628 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	447	63
BLCAP	10904	broad.mit.edu	37	20	36147320	36147320	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:36147320C>G	ENST00000373537.2	-	2	571	c.257G>C	c.(256-258)gGc>gCc	p.G86A	BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000414542.2_Missense_Mutation_p.G86A|BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	86					apoptosis|cell cycle	integral to membrane				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CCGTTAGGTGCCCACAACGCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	20		NA											NA				36147320		2203	4300	6503	SO:0001583	missense			AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619	10904	10904			1055	protein-coding gene	gene with protein product		613110			NA	10197429	Standard	NM_006698	NM_006698	NA	Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.257G>C	20.37:g.36147320C>G	ENSP00000362637:p.Gly86Ala	NA	A2A2K7|O60629|Q9D3B5	37	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050067	0.75846	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.80108	-0.1520	8	0.87932	D	0	.	15.7067	0.77588	0.0:1.0:0.0:0.0	.	86	P62952	BLCAP_HUMAN	A	86	.	ENSP00000362637:G86A	G	-	2	0	BLCAP	35580734	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.842000	0.69417	2.554000	0.86153	0.585000	0.79938	GGC	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079113.2		-	ENST00000373537.2	Missense_Mutation	SNP	20 : 36147320 - 36147320 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	322	45
BRWD1	54014	broad.mit.edu	37	21	40571514	40571514	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:40571514T>A	ENST00000380800.3	-	40	4926	c.4828A>T	c.(4828-4830)Aat>Tat	p.N1610Y	BRWD1_ENST00000333229.2_Missense_Mutation_p.N1610Y|BRWD1_ENST00000342449.3_Missense_Mutation_p.N1610Y			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATGAATTGTTATCAGAA	0.373		NA									OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													62	67	66			NA	NA	21		NA											NA				40571514		2203	4299	6502	SO:0001583	missense			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.4828A>T	21.37:g.40571514T>A	ENSP00000370178:p.Asn1610Tyr	894	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	T	17.94	3.510435	0.64522	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56103	0.48;0.52;0.6	5.19	4.01	0.46588	.	0.410373	0.22711	N	0.056578	T	0.59088	0.2168	M	0.64997	1.995	0.80722	D	1	P;P	0.49185	0.92;0.561	P;B	0.51135	0.66;0.128	T	0.60840	-0.7183	10	0.72032	D	0.01	-9.7638	11.0953	0.48141	0.0:0.0:0.1544:0.8456	.	1610;1610	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	Y	1610	ENSP00000330753:N1610Y;ENSP00000344333:N1610Y;ENSP00000370178:N1610Y	ENSP00000330753:N1610Y	N	-	1	0	BRWD1	39493384	1.000000	0.71417	0.928000	0.36995	0.993000	0.82548	1.889000	0.39718	0.783000	0.33636	0.460000	0.39030	AAT	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Missense_Mutation	SNP	21 : 40571514 - 40571514 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	787	35
C16orf70	80262	broad.mit.edu	37	16	67166803	67166803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67166803C>T	ENST00000219139.3	+	6	627	c.439C>T	c.(439-441)Cca>Tca	p.P147S	C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	147										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GACTGAGGCTCCAAAGTATGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	158	163			NA	NA	16		NA											NA				67166803		2200	4300	6500	SO:0001583	missense			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149	80262	80262			29564	protein-coding gene	gene with protein product			chromosome 16 open reading frame 6	C16orf6, LIN10	NA	12477932	Standard	NM_025187	NM_025187	NA	Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.439C>T	16.37:g.67166803C>T	ENSP00000219139:p.Pro147Ser	NA	Q9HA86	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294667	0.60086	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	N	0.10874	0.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.45425	-0.9262	9	0.09084	T	0.74	-10.8823	18.1025	0.89510	0.0:1.0:0.0:0.0	.	222;147	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	147	.	ENSP00000219139:P147S	P	+	1	0	C16orf70	65724304	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.624000	0.83124	2.866000	0.98385	0.650000	0.86243	CCA	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268829.2		+	ENST00000219139.3	Missense_Mutation	SNP	16 : 67166803 - 67166803 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	917	125
C1RL	51279	broad.mit.edu	37	12	7254607	7254607	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7254607C>T	ENST00000545280.1	-	2	164	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K|C1RL_ENST00000266542.4_Missense_Mutation_p.R126K			Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	8	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAAACTCCCTCTGACCAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	102			NA	NA	12		NA											NA				7254607		2203	4300	6503	SO:0001583	missense			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178	51279	51279			21265	protein-coding gene	gene with protein product		608974			NA	12838346	Standard	NM_016546	XM_005253385	NA	Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000545280.1:c.148G>A	12.37:g.7254607C>T	ENSP00000438286:p.Gly50Arg	NA	Q53GX9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.321|3.321	-0.138671|-0.138671	0.06669|0.06669	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000545280|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	3.76|3.76	0.896|0.896	0.19253|0.19253	.|CUB (5);	.|0.544302	.|0.17177	.|N	.|0.184060	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.05574|0.05574	-0.02|-0.02	0.28959|0.28959	N|N	0.889922|0.889922	.|B;B;B	.|0.23990	.|0.095;0.004;0.001	.|B;B;B	.|0.20184	.|0.028;0.007;0.003	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.07030	.|T	.|0.85	.|.	3.4791|3.4791	0.07595|0.07595	0.1981:0.5841:0.0:0.2179|0.1981:0.5841:0.0:0.2179	.|.	.|126;126;126	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	R|K	50|126	.|ENSP00000266542:R126K;ENSP00000441885:R126K;ENSP00000437398:R126K;ENSP00000442611:R126K	.|ENSP00000266542:R126K	G|R	-|-	1|2	0|0	C1RL|C1RL	7145883|7145883	0.033000|0.033000	0.19621|0.19621	0.979000|0.979000	0.43373|0.43373	0.888000|0.888000	0.51559|0.51559	-0.382000|-0.382000	0.07408|0.07408	0.183000|0.183000	0.20059|0.20059	0.462000|0.462000	0.41574|0.41574	GGG|AGG	C1RL-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398366.1		-	ENST00000545280.1	Missense_Mutation	SNP	12 : 7254607 - 7254607 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	771	128
C1S	716	broad.mit.edu	37	12	7172426	7172426	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7172426C>A	ENST00000402681.3	+	5	686	c.39C>A	c.(37-39)ttC>ttA	p.F13L	C1S_ENST00000406697.1_Missense_Mutation_p.F180L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L|C1S_ENST00000360817.5_Missense_Mutation_p.F180L			P09871	C1S_HUMAN	complement component 1, s subcomponent	180					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGATGTATTCACTGCACTGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(156;750 1943 12971 24779 31015)							NA				0													95	92	93			NA	NA	12		NA											NA				7172426		2203	4300	6503	SO:0001583	missense				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	716	716	3.4.21.42	Complement system	1247	protein-coding gene	gene with protein product		120580			NA		Standard	NM_001734	NM_201442	NA	Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000402681.3:c.39C>A	12.37:g.7172426C>A	ENSP00000384171:p.Phe13Leu	NA	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.195206	0.78902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	6.17	3.05	0.35203	CUB (5);	0.000000	0.44483	D	0.000450	T	0.17152	0.0412	L	0.28054	0.825	0.36787	D	0.884655	P	0.39551	0.678	P	0.51777	0.679	T	0.18555	-1.0333	10	0.13853	T	0.58	.	8.1984	0.31411	0.0:0.6461:0.0:0.3539	.	180	P09871	C1S_HUMAN	L	180;180;180;169;13;13	ENSP00000385035:F180L;ENSP00000328173:F180L;ENSP00000354057:F180L;ENSP00000384171:F13L;ENSP00000442298:F13L	ENSP00000328173:F180L	F	+	3	2	C1S	7042687	1.000000	0.71417	0.972000	0.41901	0.871000	0.50021	0.473000	0.22132	0.941000	0.37499	0.655000	0.94253	TTC	C1S-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401825.1		+	ENST00000402681.3	Missense_Mutation	SNP	12 : 7172426 - 7172426 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	611	83
CACNG2	10369	broad.mit.edu	37	22	36962506	36962506	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:36962506C>A	ENST00000300105.6	-	3	1311	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	110					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAATCACACTCAGGATTGGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	82	85			NA	NA	22		NA											NA				36962506		2203	4300	6503	SO:0001819	synonymous_variant			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862	10369	10369		Calcium channel subunits	1406	protein-coding gene	gene with protein product		602911			NA		Standard		NM_006078	NA	Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.330G>T	22.37:g.36962506C>A		NA	Q2M1M1|Q5TGT3|Q9UGZ7	37	CCDS13931.1																																																																																			CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075500.2		-	ENST00000300105.6	Silent	SNP	22 : 36962506 - 36962506 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	297	45
CAMSAP3	57662	broad.mit.edu	37	19	7673099	7673099	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:7673099G>A	ENST00000446248.2	+	7	891	c.790G>A	c.(790-792)Gcg>Acg	p.A264T	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A237T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	237	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGTGGGGCCGCGCTGGCCGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	52	49			NA	NA	19		NA											NA				7673099		2079	4198	6277	SO:0001583	missense			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826	57662	57662			29307	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 80	612685	KIAA1543	KIAA1543	NA	11318610, 10819331, 19041755, 19508979	Standard	XM_048362	NM_001080429	NA	Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000446248.2:c.790G>A	19.37:g.7673099G>A	ENSP00000416797:p.Ala264Thr	NA	Q8NDF1	37	CCDS45947.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.522820	0.85600	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.30182	1.54;1.57	4.89	4.89	0.63831	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.77486	2.375	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64326	-0.6434	10	0.87932	D	0	-19.3224	16.8335	0.85951	0.0:0.0:1.0:0.0	.	237;264	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	T	264;237	ENSP00000416797:A264T;ENSP00000160298:A237T	ENSP00000160298:A237T	A	+	1	0	KIAA1543	7579099	1.000000	0.71417	0.305000	0.25099	0.568000	0.35870	9.498000	0.97972	2.273000	0.75805	0.543000	0.68304	GCG	CAMSAP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459301.2		+	ENST00000446248.2	Missense_Mutation	SNP	19 : 7673099 - 7673099 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	336	15
CAPN5	726	broad.mit.edu	37	11	76833726	76833726	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:76833726C>T	ENST00000456580.2	+	13	1965	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C|CAPN5_ENST00000278559.3_Missense_Mutation_p.R570C			O15484	CAN5_HUMAN	calpain 5	570	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CATCTTCTACCGCAAGAAGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	111	116			NA	NA	11		NA											NA				76833726		2200	4292	6492	SO:0001583	missense				CCDS8248.1	11q14	2014-01-29				ENSG00000149260	726	726			1482	protein-coding gene	gene with protein product		602537	vitreoretinopathy, neovascular inflammatory	VRNI	NA	9503024, 9367857, 23055945	Standard	NM_004055	NM_004055	NA	Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000456580.2:c.1828C>T	11.37:g.76833726C>T	ENSP00000409996:p.Arg610Cys	NA	O00263	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.988182	0.74589	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.71103	-0.54;-0.54;-0.54	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050653	0.85682	D	0.000000	T	0.81074	0.4747	M	0.62016	1.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.995;1.0	T	0.82692	-0.0331	10	0.87932	D	0	.	12.5828	0.56399	0.1658:0.8341:0.0:0.0	.	608;610;610;570	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	C	570;610;570;610	ENSP00000278559:R570C;ENSP00000432332:R570C;ENSP00000409996:R610C	ENSP00000278559:R570C	R	+	1	0	CAPN5	76511374	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.941000	0.49011	2.428000	0.82296	0.655000	0.94253	CGC	CAPN5-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382568.1		+	ENST00000456580.2	Missense_Mutation	SNP	11 : 76833726 - 76833726 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	272	39
CCDC148	130940	broad.mit.edu	37	2	159077147	159077147	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:159077147T>A	ENST00000283233.5	-	11	1643	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	444										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTAATTTCTTCAGTTCTTCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	109	113			NA	NA	2		NA											NA				159077147		2203	4300	6503	SO:0001587	stop_gained				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237	130940	130940			25191	protein-coding gene	gene with protein product					NA		Standard	NM_138803	NM_138803	NA	Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1330A>T	2.37:g.159077147T>A	ENSP00000283233:p.Lys444*	NA	Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	38	7.213421	0.98139	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6426	13.8506	0.63494	0.0:0.0:0.0:1.0	.	.	.	.	X	444;453	.	ENSP00000283233:K444X	K	-	1	0	CCDC148	158785393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.843000	0.62838	2.203000	0.70933	0.460000	0.39030	AAG	CCDC148-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333270.1		-	ENST00000283233.5	Nonsense_Mutation	SNP	2 : 159077147 - 159077147 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	382	44
CDC27	996	broad.mit.edu	37	17	45206848	45206848	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45206848T>A	ENST00000066544.3	-	16	2164	c.2071A>T	c.(2071-2073)Acc>Tcc	p.T691S	CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	691					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGTTTAGGGTATCCAAAGCC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	103	102			NA	NA	17		NA											NA				45206848		2203	4300	6503	SO:0001583	missense			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897	996	996		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1728	protein-coding gene	gene with protein product	anaphase promoting complex subunit 3	116946	cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae)	D0S1430E, D17S978E	NA	8234252	Standard		XM_005257892	NA	Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2071A>T	17.37:g.45206848T>A	ENSP00000066544:p.Thr691Ser	NA	Q16349|Q96F35	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878527	0.91740	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.988;0.988;0.993	T	0.80074	-0.1534	10	0.49607	T	0.09	-10.4546	13.8853	0.63704	0.0:0.0:0.0:1.0	.	630;690;697;691	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	691;697;630;690	ENSP00000066544:T691S;ENSP00000434614:T697S;ENSP00000392802:T630S;ENSP00000437339:T690S	ENSP00000066544:T691S	T	-	1	0	CDC27	42561847	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.032000	0.88838	2.156000	0.67533	0.460000	0.39030	ACC	CDC27-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389742.2		-	ENST00000066544.3	Missense_Mutation	SNP	17 : 45206848 - 45206848 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	461	16
CDH23	64072	broad.mit.edu	37	10	73545428	73545428	+	Missense_Mutation	SNP	G	G	A	rs115113440	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73545428G>A	ENST00000224721.6	+	43	5773	c.5768G>A	c.(5767-5769)cGg>cAg	p.R1923Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1918	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCGCGAGCGGATCCCAGAG	0.597		NA											G	6	0.0027	0.01	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0029	0.9458	LOWCOV	NA	NA	2e-04	SNP								NA				0								G	GLN/ARG	18,4196		0,18,2089	48	54	52		5753	2.3	1	10	dbSNP_132	52	0,8414		0,0,4207	yes	missense	CDH23	NM_022124.5	43	0,18,6296	AA,AG,GG	NA	0.0,0.4271,0.1425	benign	1918/3355	73545428	18,12610	2107	4207	6314	SO:0001583	missense			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736	64072	64072		Cadherins / Cadherin-related	13733	protein-coding gene	gene with protein product	cadherin-related family member 23	605516	cadherin related 23, cadherin-like 23	DFNB12, USH1D	NA	11090341	Standard	NM_052836	NM_022124	NA	Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5768G>A	10.37:g.73545428G>A	ENSP00000224721:p.Arg1923Gln	NA	C4IXS9|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	37		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	12.73	2.024660	0.35701	0.004271	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	2.33	0.28932	Cadherin (4);Cadherin-like (1);	0.074456	0.53938	D	0.000048	T	0.18173	0.0436	N	0.05510	-0.035	0.80722	D	1	B	0.22683	0.073	B	0.18871	0.023	T	0.03287	-1.1052	9	0.15499	T	0.54	.	5.4098	0.16342	0.2787:0.0:0.592:0.1293	.	1918	Q9H251	CAD23_HUMAN	Q	1923;1918;1921	.	ENSP00000224721:R1923Q	R	+	2	0	CDH23	73215434	0.999000	0.42202	0.991000	0.47740	0.646000	0.38490	0.633000	0.24598	0.208000	0.20626	-0.380000	0.06706	CGG	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000051227.4		+	ENST00000224721.6	Missense_Mutation	SNP	10 : 73545428 - 73545428 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	84	12
CDYL2	124359	broad.mit.edu	37	16	80718735	80718735	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:80718735G>A	ENST00000570137.2	-	2	471	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	NA						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTCGCTTCCGTTTATGGGAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69	69	69		316	4.2	1	16		69	0,8600		0,0,4300	no	missense	CDYL2	NM_152342.2	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	106/507	80718735	1,13005	2203	4300	6503	SO:0001583	missense			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446	124359	124359			23030	protein-coding gene	gene with protein product			chromodomain Y-like protein 2		NA	12837688	Standard	NM_152342	NM_152342	NA	Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.316C>T	16.37:g.80718735G>A	ENSP00000476295:p.Arg106Trp	NA	Q7Z5I8	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327533	0.60743	2.27E-4	0.0	ENSG00000166446	ENST00000299564	T	0.59364	0.27	5.23	4.24	0.50183	.	0.412335	0.23696	N	0.045479	T	0.64394	0.2594	L	0.29908	0.895	0.49130	D	0.999755	D	0.89917	1.0	D	0.81914	0.995	T	0.67126	-0.5749	10	0.87932	D	0	.	13.7029	0.62620	0.0:0.0:0.7712:0.2288	.	106	Q8N8U2	CDYL2_HUMAN	W	106	ENSP00000299564:R106W	ENSP00000299564:R106W	R	-	1	2	CDYL2	79276236	0.995000	0.38212	1.000000	0.80357	0.702000	0.40608	0.199000	0.17237	2.713000	0.92767	0.655000	0.94253	CGG	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434727.2		-	ENST00000570137.2	Missense_Mutation	SNP	16 : 80718735 - 80718735 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	293	53
CFH	3075	broad.mit.edu	37	1	196695962	196695962	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:196695962T>C	ENST00000367429.4	+	14	2368	c.2128T>C	c.(2128-2130)Tac>Cac	p.Y710H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	710	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCTCCTTATTACTATGGAGA	0.393		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	1		NA											NA				196695962		2203	4300	6503	SO:0001583	missense			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971	3075	3075		Complement system	4883	protein-coding gene	gene with protein product	beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1	134370	H factor 1 (complement)	HF, HF1, HF2	NA	2889480, 2963625	Standard	NM_000186	NM_000186	NA	Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2128T>C	1.37:g.196695962T>C	ENSP00000356399:p.Tyr710His	NA	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	T	1.622	-0.521227	0.04171	.	.	ENSG00000000971	ENST00000367429	T	0.64085	-0.08	5.8	1.14	0.20703	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29882	0.0747	N	0.01003	-1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	9	0.39692	T	0.17	.	8.5839	0.33646	0.0:0.6377:0.0:0.3623	.	710	P08603	CFAH_HUMAN	H	710	ENSP00000356399:Y710H	ENSP00000356399:Y710H	Y	+	1	0	CFH	194962585	0.017000	0.18338	0.468000	0.27192	0.386000	0.30323	-0.083000	0.11286	0.318000	0.23185	-0.250000	0.11733	TAC	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086412.2		+	ENST00000367429.4	Missense_Mutation	SNP	1 : 196695962 - 196695962 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	487	74
CHPF	79586	broad.mit.edu	37	2	220406647	220406647	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:220406647G>T	ENST00000243776.6	-	2	827	c.579C>A	c.(577-579)gaC>gaA	p.D193E	CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|CHPF_ENST00000373891.2_Missense_Mutation_p.D193E	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	193						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAAGAACCAGTCAAAGTCGT	0.672		NA									OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	30	31			NA	NA	2		NA											NA				220406647		2202	4300	6502	SO:0001583	missense			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	79586	79586	2.4.1.175, 2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	24291	protein-coding gene	gene with protein product	chondroitin sulfate synthase 2	610405			NA	11230166, 12716890	Standard	NM_024536	NM_024536	NA	Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.579C>A	2.37:g.220406647G>T	ENSP00000243776:p.Asp193Glu	2266	Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294157	0.81025	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.19394	2.15;2.44	4.41	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.02603	-1.1135	10	0.23302	T	0.38	-31.7198	9.132	0.36850	0.2372:0.0:0.7628:0.0	.	193;193	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	E	193;31;193	ENSP00000243776:D193E;ENSP00000445571:D31E	ENSP00000243776:D193E	D	-	3	2	CHPF	220114891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	0.242000	0.21303	0.549000	0.68633	GAC	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130268.1		-	ENST00000243776.6	Missense_Mutation	SNP	2 : 220406647 - 220406647 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	87	4
CLCC1	23155	broad.mit.edu	37	1	109477302	109477302	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:109477302G>A	ENST00000369971.2	-	11	1775	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L	CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	549						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTAGCCACAGGGGCTGCTGAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	72			NA	NA	1		NA											NA				109477302		2203	4300	6503	SO:0001583	missense			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940	23155	23155			29675	protein-coding gene	gene with protein product	Mid1-related chloride channel (yeast)				NA	9872452, 11279057	Standard	NM_015127	NM_001048210	NA	Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1646C>T	1.37:g.109477302G>A	ENSP00000358988:p.Pro549Leu	NA	O94861|Q8WYP8|Q8WYP9|Q9BU25	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604243	0.87157	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.81	1.51	0.23008	.	0.372474	0.23454	N	0.048004	T	0.15652	0.0377	L	0.51422	1.61	0.34281	D	0.682164	B;B;B;B	0.17667	0.008;0.008;0.023;0.01	B;B;B;B	0.16289	0.011;0.011;0.009;0.015	T	0.02868	-1.1100	10	0.72032	D	0.01	-0.2661	3.6445	0.08180	0.2808:0.0:0.5081:0.2112	.	364;428;499;549	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	L	549;549;499;428;364;499;364;428	ENSP00000349456:P549L;ENSP00000358988:P549L;ENSP00000411591:P499L;ENSP00000358986:P428L;ENSP00000358985:P364L;ENSP00000358987:P499L;ENSP00000337243:P364L;ENSP00000306552:P428L	ENSP00000306552:P428L	P	-	2	0	CLCC1	109278825	0.063000	0.20901	0.224000	0.23877	0.685000	0.39939	0.037000	0.13840	0.392000	0.25172	0.655000	0.94253	CCC	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032405.1		-	ENST00000369971.2	Missense_Mutation	SNP	1 : 109477302 - 109477302 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	367	56
COL4A4	1286	broad.mit.edu	37	2	227875104	227875104	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:227875104C>A	ENST00000396625.3	-	46	4654	c.4447G>T	c.(4447-4449)Ggc>Tgc	p.G1483C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1483	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGCATGCCCAGGGGGCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	67	67			NA	NA	2		NA											NA				227875104		1852	4097	5949	SO:0001583	missense				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052	1286	1286		Collagens	2206	protein-coding gene	gene with protein product	collagen of basement membrane, alpha-4 chain	120131			NA	1639407	Standard	NM_000092	NM_000092	NA	Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4447G>T	2.37:g.227875104C>A	ENSP00000379866:p.Gly1483Cys	NA	A8MTZ1|Q53RW9|Q53S42|Q53WR1	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378418	0.61735	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95412	-3.7;-3.7	5.69	4.82	0.62117	C-type lectin fold (1);	.	.	.	.	D	0.98476	0.9492	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99433	1.0936	9	0.87932	D	0	.	14.6375	0.68699	0.0:0.9302:0.0:0.0698	.	1483	P53420	CO4A4_HUMAN	C	1483;1480	ENSP00000379866:G1483C;ENSP00000328553:G1480C	ENSP00000328553:G1480C	G	-	1	0	COL4A4	227583348	1.000000	0.71417	0.985000	0.45067	0.807000	0.45602	7.745000	0.85046	1.418000	0.47098	-0.136000	0.14681	GGC	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313770.1		-	ENST00000396625.3	Missense_Mutation	SNP	2 : 227875104 - 227875104 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	374	48
DAGLA	747	broad.mit.edu	37	11	61508664	61508664	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:61508664G>A	ENST00000257215.5	+	19	2130	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	672					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGGGAAGACCGCTCTGCTCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	84	89			NA	NA	11		NA											NA				61508664		2202	4299	6501	SO:0001583	missense			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	747	747	3.1.1.-		1165	protein-coding gene	gene with protein product	neural stem cell-derived dendrite regulator	614015	chromosome 11 open reading frame 11	C11orf11	NA	9734811	Standard	NM_006133	NM_006133	NA	Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2014G>A	11.37:g.61508664G>A	ENSP00000257215:p.Ala672Thr	NA	A7E233|Q6WQJ0	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295157	0.60086	.	.	ENSG00000134780	ENST00000257215	T	0.29655	1.56	3.73	3.73	0.42828	.	0.056336	0.64402	D	0.000001	T	0.43986	0.1272	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.42949	-0.9421	10	0.48119	T	0.1	-13.0611	16.4468	0.83936	0.0:0.0:1.0:0.0	.	672	Q9Y4D2	DGLA_HUMAN	T	672	ENSP00000257215:A672T	ENSP00000257215:A672T	A	+	1	0	DAGLA	61265240	1.000000	0.71417	0.852000	0.33557	0.619000	0.37552	9.441000	0.97557	2.039000	0.60335	0.456000	0.33151	GCT	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398516.1		+	ENST00000257215.5	Missense_Mutation	SNP	11 : 61508664 - 61508664 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	361	50
DAPP1	27071	broad.mit.edu	37	4	100784951	100784951	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:100784951G>C	ENST00000296414.7	+	7	706	c.625G>C	c.(625-627)Gac>Cac	p.D209H	DAPP1_ENST00000512369.1_Missense_Mutation_p.D209H			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	209	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCGGATCCTAGACCTAACAGA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	4		NA											NA				100784951		1807	4072	5879	SO:0001583	missense			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190	27071	27071		Pleckstrin homology (PH) domain containing, SH2 domain containing	16500	protein-coding gene	gene with protein product		605768			NA	10432293	Standard		NM_014395	NA	Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000296414.7:c.625G>C	4.37:g.100784951G>C	ENSP00000296414:p.Asp209His	NA	Q8TCK5|Q9UHF2	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.032235	0.75504	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.76709	-1.04;-1.04	5.72	4.88	0.63580	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045133	0.85682	D	0.000000	D	0.87341	0.6153	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	D	0.88675	0.3198	10	0.72032	D	0.01	-19.8161	13.5784	0.61888	0.076:0.0:0.9239:0.0	.	209;209	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	H	209	ENSP00000296414:D209H;ENSP00000423602:D209H	ENSP00000296414:D209H	D	+	1	0	DAPP1	101003974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.093000	0.64517	1.410000	0.46936	0.655000	0.94253	GAC	DAPP1-001	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000363214.1		+	ENST00000296414.7	Missense_Mutation	SNP	4 : 100784951 - 100784951 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	112	20
DEFB135	613209	broad.mit.edu	37	8	11841997	11841997	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	99			NA	NA	8		NA											NA				11841997		1879	4107	5986	SO:0001819	synonymous_variant			DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883	613209	613209		Defensins, beta	32400	protein-coding gene	gene with protein product					NA	16033865	Standard	NM_001033017	NM_001033017	NA	Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.132C>T	8.37:g.11841997C>T		NA	Q4QY37	37	CCDS43710.1																																																																																			DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351888.1		+	ENST00000382208.2	Silent	SNP	8 : 11841997 - 11841997 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	307	5
DHX36	170506	broad.mit.edu	37	3	154032888	154032888	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:154032888A>C	ENST00000496811.1	-	3	630	c.550T>G	c.(550-552)Tta>Gta	p.L184V	DHX36_ENST00000544526.1_Missense_Mutation_p.L184V|DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	184						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCCAATAATTTTTGGTCT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	3		NA											NA				154032888		2199	4298	6497	SO:0001583	missense			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953	170506	170506		DEAH-boxes	14410	protein-coding gene	gene with protein product		612767	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36	DDX36	NA		Standard	NM_020865	NM_020865	NA	Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.550T>G	3.37:g.154032888A>C	ENSP00000417078:p.Leu184Val	NA	B2RB00|Q70JU3|Q8IYE5|Q9P240	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854682	0.32791	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.64	2.36	0.29203	.	0.000000	0.64402	D	0.000001	T	0.08537	0.0212	L	0.36672	1.1	0.46774	D	0.999197	P;P;B	0.41313	0.573;0.745;0.251	B;B;B	0.37550	0.18;0.253;0.095	T	0.18116	-1.0347	10	0.51188	T	0.08	.	9.201	0.37258	0.2292:0.0:0.7708:0.0	.	184;184;184	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	184;184;184;184;98	ENSP00000417078:L184V;ENSP00000309296:L184V;ENSP00000444247:L184V;ENSP00000330113:L184V;ENSP00000419862:L98V	ENSP00000309296:L184V	L	-	1	2	DHX36	155515582	0.980000	0.34600	0.395000	0.26283	0.968000	0.65278	1.368000	0.34216	0.114000	0.18032	0.472000	0.43445	TTA	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353349.1		-	ENST00000496811.1	Missense_Mutation	SNP	3 : 154032888 - 154032888 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	400	68
DHX38	9785	broad.mit.edu	37	16	72138480	72138480	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:72138480C>T	ENST00000268482.3	+	15	2615	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	702	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCCATCTTCCACATCCCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(97;711 1442 7855 13832 28836)							NA				0													250	189	210			NA	NA	16		NA											NA				72138480		2198	4300	6498	SO:0001819	synonymous_variant			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829	9785	9785		DEAH-boxes	17211	protein-coding gene	gene with protein product		605584	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38	DDX38	NA	9524131, 9039502	Standard	NM_014003	NM_014003	NA	Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2106C>T	16.37:g.72138480C>T		NA	D3DWS7|O75212|Q96HN7	37	CCDS10907.1																																																																																			DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269004.3		+	ENST00000268482.3	Silent	SNP	16 : 72138480 - 72138480 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	518	72
DIDO1	11083	broad.mit.edu	37	20	61512310	61512310	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:61512310G>T	ENST00000266070.4	-	16	5323	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G	DIDO1_ENST00000395343.1_Silent_p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGCAGGGCGCCGCAAGGCG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													12	14	13			NA	NA	20		NA											NA				61512310		2181	4255	6436	SO:0001819	synonymous_variant			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4998C>A	20.37:g.61512310G>T		NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1																																																																																			DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Silent	SNP	20 : 61512310 - 61512310 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	142	37
DLGAP1	9229	broad.mit.edu	37	18	3879577	3879577	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1_ENST00000581527.1_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	65	61			NA	NA	18		NA											NA				3879577		2202	4300	6502	SO:0001819	synonymous_variant			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579	9229	9229			2905	protein-coding gene	gene with protein product		605445	discs, large (Drosophila) homolog-associated protein 1		NA	9024696, 9286858	Standard		NM_004746	NA	Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.492C>T	18.37:g.3879577G>A		NA	B2RMU8|B7WPA1|O14489|P78335	37	CCDS11836.1																																																																																			DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254394.4		-	ENST00000315677.3	Silent	SNP	18 : 3879577 - 3879577 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	572	111
DPP10	57628	broad.mit.edu	37	2	116510788	116510788	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:116510788C>A	ENST00000410059.1	+	11	1469	c.989C>A	c.(988-990)aCc>aAc	p.T330N	DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000409163.1_Missense_Mutation_p.T280N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	330					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAAGCAATACCAAGACTGTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	102	107			NA	NA	2		NA											NA				116510788		2203	4300	6503	SO:0001583	missense			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497	57628	57628			20823	protein-coding gene	gene with protein product		608209	dipeptidylpeptidase 10, dipeptidyl-peptidase 10		NA	10819331, 12662155	Standard	NM_020868	NM_020868	NA	Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.989C>A	2.37:g.116510788C>A	ENSP00000386565:p.Thr330Asn	NA	A8K1Q2|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190021	0.78789	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.46614	1.455	0.80722	D	1	P;D;D;P	0.76494	0.883;0.999;0.963;0.904	P;D;P;P	0.85130	0.61;0.997;0.73;0.73	T	0.27773	-1.0064	10	0.33940	T	0.23	-11.7935	17.6852	0.88255	0.0:1.0:0.0:0.0	.	323;334;326;330	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	330;280;334;323;280	ENSP00000386565:T330N;ENSP00000387038:T280N;ENSP00000376855:T334N;ENSP00000309066:T323N	ENSP00000309066:T323N	T	+	2	0	DPP10	116227258	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.299000	0.78831	2.660000	0.90430	0.650000	0.86243	ACC	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330580.4		+	ENST00000410059.1	Missense_Mutation	SNP	2 : 116510788 - 116510788 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	331	39
DRD1	1812	broad.mit.edu	37	5	174869707	174869707	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:174869707C>G	ENST00000393752.2	-	2	1388	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	132					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TCATCTTTCTCTCATACCGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	110	108			NA	NA	5		NA											NA				174869707		2203	4300	6503	SO:0001583	missense			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845	1812	1812		GPCR / Class A : Dopamine receptors	3020	protein-coding gene	gene with protein product		126449			NA		Standard	NM_000794	NM_000794	NA	Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.396G>C	5.37:g.174869707C>G	ENSP00000377353:p.Glu132Asp	NA	B2RA44|Q4QRJ0	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172325	0.38315	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.72505	-0.66	5.55	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.046619	0.85682	D	0.000000	T	0.81079	0.4748	M	0.82517	2.595	0.51233	D	0.999911	D	0.60575	0.988	P	0.61722	0.893	T	0.81150	-0.1064	10	0.62326	D	0.03	.	8.8539	0.35217	0.0:0.772:0.0:0.228	.	132	P21728	DRD1_HUMAN	D	132	ENSP00000377353:E132D	ENSP00000327652:E132D	E	-	3	2	DRD1	174802313	1.000000	0.71417	0.978000	0.43139	0.401000	0.30781	1.935000	0.40173	0.819000	0.34492	0.655000	0.94253	GAG	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252982.2		-	ENST00000393752.2	Missense_Mutation	SNP	5 : 174869707 - 174869707 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	321	63
ELK1	2002	broad.mit.edu	37	X	47498346	47498346	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47498346G>A	ENST00000247161.3	-	3	701	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ELK1_ENST00000592066.1_Missense_Mutation_p.P147L|ELK1_ENST00000376983.3_Missense_Mutation_p.P201L|ELK1_ENST00000343894.4_Intron	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	201					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAAGGGGCTTGGACTGGTGCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	9	9			NA	NA	X		NA											NA				47498346		2197	4263	6460	SO:0001583	missense			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767	2002	2002			3321	protein-coding gene	gene with protein product		311040			NA	2539641	Standard	NM_005229	NM_001114123	NA	Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.602C>T	X.37:g.47498346G>A	ENSP00000247161:p.Pro201Leu	NA	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	37	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734656	0.69189	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.44482	0.92;0.92	3.73	3.73	0.42828	.	0.322177	0.29355	N	0.012395	T	0.47395	0.1443	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44651	-0.9314	10	0.52906	T	0.07	.	10.0463	0.42188	0.0:0.0:1.0:0.0	.	201	P19419	ELK1_HUMAN	L	201	ENSP00000247161:P201L;ENSP00000366182:P201L	ENSP00000247161:P201L	P	-	2	0	ELK1	47383290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.925000	0.56484	2.122000	0.65172	0.529000	0.55759	CCA	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056436.1		-	ENST00000247161.3	Missense_Mutation	SNP	X : 47498346 - 47498346 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	13	11
EML1	2009	broad.mit.edu	37	14	100374050	100374050	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:100374050G>C	ENST00000262233.6	+	10	1223	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	EML1_ENST00000327921.9_Missense_Mutation_p.E350Q|EML1_ENST00000334192.4_Missense_Mutation_p.E381Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	362						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGAAAGAAGAAAAACTAGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	102	102			NA	NA	14		NA											NA				100374050		2203	4300	6503	SO:0001583	missense			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629	2009	2009		WD repeat domain containing	3330	protein-coding gene	gene with protein product		602033		EMAPL	NA	9226380, 10521658	Standard	NM_001008707	XM_005267397	NA	Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1084G>C	14.37:g.100374050G>C	ENSP00000262233:p.Glu362Gln	NA	Q86U15|Q8N536|Q8N5C4|Q8WWL6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911712	0.52439	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.46451	5.01;0.87;0.87;0.87	4.99	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.049952	0.85682	D	0.000000	T	0.44201	0.1282	N	0.25890	0.77	0.50813	D	0.999899	D;P;B;D;D	0.59767	0.975;0.911;0.029;0.986;0.957	P;B;B;P;B	0.57846	0.648;0.363;0.011;0.828;0.445	T	0.19712	-1.0297	10	0.21014	T	0.42	-24.9371	14.9443	0.71016	0.0:0.0:0.8557:0.1443	.	350;350;362;381;381	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Q	349;350;362;381;381	ENSP00000451346:E349Q;ENSP00000327384:E350Q;ENSP00000262233:E362Q;ENSP00000334314:E381Q	ENSP00000262233:E362Q	E	+	1	0	EML1	99443803	1.000000	0.71417	0.042000	0.18584	0.901000	0.52897	7.832000	0.86757	1.206000	0.43276	0.655000	0.94253	GAA	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413943.1		+	ENST00000262233.6	Missense_Mutation	SNP	14 : 100374050 - 100374050 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	316	51
ENTPD8	377841	broad.mit.edu	37	9	140330612	140330612	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:140330612G>T	ENST00000344119.2	-	7	1086	c.903C>A	c.(901-903)ctC>ctA	p.L301L	ENTPD8_ENST00000371506.2_Silent_p.L301L|ENTPD8_ENST00000472938.1_Silent_p.L301L	NM_198585.2	NP_940987.2	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	301						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTTCTGGGGGAGGCTCAGCG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	50	50			NA	NA	9		NA											NA				140330612		2202	4300	6502	SO:0001819	synonymous_variant			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833	377841	377841			24860	protein-coding gene	gene with protein product	GLSR2492				NA	12975309	Standard	NM_198585	NM_198585	NA	Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000344119.2:c.903C>A	9.37:g.140330612G>T		NA	A2BG17|Q6UVZ0	37	CCDS7043.1																																																																																			ENTPD8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254774.2		-	ENST00000344119.2	Silent	SNP	9 : 140330612 - 140330612 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	307	46
EPHB4	2050	broad.mit.edu	37	7	100421350	100421350	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:100421350C>T	ENST00000358173.3	-	3	795	c.327G>A	c.(325-327)gaG>gaA	p.E109E	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	109					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGTGAAGGTCTCCTTGCAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0													65	62	63			NA	NA	7		NA											NA				100421350		2203	4300	6503	SO:0001819	synonymous_variant			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.327G>A	7.37:g.100421350C>T		NA	Q9BTA5|Q9BXP0	37	CCDS5706.1																																																																																			EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Silent	SNP	7 : 100421350 - 100421350 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	425	47
ETV5	2119	broad.mit.edu	37	3	185783686	185783686	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:185783686G>C	ENST00000306376.5	-	8	1072	c.826C>G	c.(826-828)Ccg>Gcg	p.P276A	ETV5_ENST00000434744.1_Missense_Mutation_p.P276A|ETV5_ENST00000537818.1_Missense_Mutation_p.P318A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGCATGCCCGGGACCCCATGT	0.552		NA	T	TMPRSS2, SCL45A3	Prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q28	2119	ets variant gene 5		E	0													74	84	80			NA	NA	3		NA											NA				185783686		2203	4300	6503	SO:0001583	missense			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405	2119	2119			3494	protein-coding gene	gene with protein product	ets-related molecule	601600	ets variant gene 5 (ets-related molecule)		NA	8152800	Standard	NM_004454	NM_004454	NA	Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.826C>G	3.37:g.185783686G>C	ENSP00000306894:p.Pro276Ala	NA	A6NH46|Q6IBN5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738599	0.30774	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.24151	1.87;1.87;1.87	6.17	4.36	0.52297	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.053049	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.42954	D	0.994381	B;B	0.14438	0.01;0.008	B;B	0.16289	0.015;0.013	T	0.05321	-1.0892	10	0.37606	T	0.19	.	9.3211	0.37964	0.0734:0.0:0.7838:0.1428	.	276;318	P41161;B7Z7D7	ETV5_HUMAN;.	A	276;276;318	ENSP00000306894:P276A;ENSP00000413755:P276A;ENSP00000441737:P318A	ENSP00000306894:P276A	P	-	1	0	ETV5	187266380	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	3.446000	0.52928	0.907000	0.36646	0.655000	0.94253	CCG	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344947.1		-	ENST00000306376.5	Missense_Mutation	SNP	3 : 185783686 - 185783686 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	502	27
FAM114A1	92689	broad.mit.edu	37	4	38933133	38933133	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:38933133C>T	ENST00000358869.2	+	11	1399	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	408						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTAGATGTGGCAAAAGTGTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	4		NA											NA				38933133		2203	4300	6503	SO:0001583	missense				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712	92689	92689			25087	protein-coding gene	gene with protein product					NA		Standard	NM_138389	NM_138389	NA	Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1223C>T	4.37:g.38933133C>T	ENSP00000351740:p.Ala408Val	NA	A8K9W6|Q9BVL6	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746323	0.15710	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.22743	1.94;2.92	6.07	3.04	0.35103	.	1.106540	0.06528	N	0.740982	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.45381	-0.9265	10	0.02654	T	1	-0.0049	7.2024	0.25889	0.1269:0.6457:0.0:0.2274	.	201;408	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	V	201;408;201	ENSP00000424115:A201V;ENSP00000351740:A408V	ENSP00000347569:A201V	A	+	2	0	FAM114A1	38609528	0.600000	0.26899	0.002000	0.10522	0.268000	0.26511	1.217000	0.32455	0.907000	0.36646	0.655000	0.94253	GCA	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250436.1		+	ENST00000358869.2	Missense_Mutation	SNP	4 : 38933133 - 38933133 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	183	8
FAM189A2	9413	broad.mit.edu	37	9	71951186	71951186	+	Splice_Site	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:71951186G>T	ENST00000257515.8	+	2	432		c.e2+1		FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	NA						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATACTCCTGGTATGTACTGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	164	164			NA	NA	9		NA											NA				71951186		2203	4299	6502	SO:0001630	splice_region_variant			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063	9413	9413			24820	protein-coding gene	gene with protein product		607710	chromosome 9 open reading frame 61	C9orf61	NA	7951235	Standard	NM_004816	NM_004816	NA	Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.12+1G>T	9.37:g.71951186G>T		NA	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	37	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323082	0.60634	.	.	ENSG00000135063	ENST00000455972;ENST00000257515	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2361	0.65927	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM189A2	71141006	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.913000	0.63341	2.526000	0.85167	0.655000	0.94253	.	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052576.2	Intron	+	ENST00000257515.8	Splice_Site	SNP	9 : 71951186 - 71951186 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	792	116
FAM65A	79567	broad.mit.edu	37	16	67576517	67576517	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67576517C>G	ENST00000540839.3	+	14	2108	c.1888C>G	c.(1888-1890)Cat>Gat	p.H630D	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000379312.3_Missense_Mutation_p.H614D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	614	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AAGCCCTACCCATACCACAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													420	390	400			NA	NA	16		NA											NA				67576517		2198	4300	6498	SO:0001583	missense			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523	79567	79567			25836	protein-coding gene	gene with protein product					NA	11572484	Standard	NM_024519	NM_001193522	NA	Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000540839.3:c.1888C>G	16.37:g.67576517C>G	ENSP00000443568:p.His630Asp	NA	Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.90|14.90	2.672180|2.672180	0.47781|0.47781	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	4.72|4.72	1.63|1.63	0.23807|0.23807	.|.	1.276350|.	0.05009|.	N|.	0.470630|.	T|T	0.16769|0.16769	0.0403|0.0403	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.26400|.	0.039;0.039;0.039;0.148|.	B;B;B;B|.	0.19946|.	0.007;0.007;0.007;0.027|.	T|T	0.28267|0.28267	-1.0049|-1.0049	10|5	0.42905|.	T|.	0.14|.	0.0019|0.0019	6.4361|6.4361	0.21825|0.21825	0.0:0.6759:0.1505:0.1737|0.0:0.6759:0.1505:0.1737	.|.	624;630;614;630|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	D|R	614;610;630;624|604	ENSP00000368614:H614D;ENSP00000042381:H610D;ENSP00000400099:H630D|.	ENSP00000042381:H610D|.	H|P	+|+	1|2	0|0	FAM65A|FAM65A	66134018|66134018	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.112000|0.112000	0.19704|0.19704	0.853000|0.853000	0.27777|0.27777	0.178000|0.178000	0.19917|0.19917	0.436000|0.436000	0.28706|0.28706	CAT|CCA	FAM65A-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268867.2		+	ENST00000540839.3	Missense_Mutation	SNP	16 : 67576517 - 67576517 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	1351	141
FAT1	2195	broad.mit.edu	37	4	187524664	187524664	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:187524664A>G	ENST00000441802.2	-	19	11225	c.11016T>C	c.(11014-11016)ggT>ggC	p.G3672G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3672					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTCCTCACACCCAGGATGT	0.502		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													59	63	61			NA	NA	4		NA											NA				187524664		2082	4226	6308	SO:0001819	synonymous_variant			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11016T>C	4.37:g.187524664A>G		NA		37	CCDS47177.1																																																																																			FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Silent	SNP	4 : 187524664 - 187524664 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	158	23
FBN3	84467	broad.mit.edu	37	19	8190867	8190867	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:8190867A>G	ENST00000600128.1	-	22	3054	c.2640T>C	c.(2638-2640)tgT>tgC	p.C880C	FBN3_ENST00000601739.1_Silent_p.C880C|FBN3_ENST00000270509.2_Silent_p.C880C			Q75N90	FBN3_HUMAN	fibrillin 3	880	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCGTTGGGACAGACTCCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	56	59			NA	NA	19		NA											NA				8190867		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2640T>C	19.37:g.8190867A>G		NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1																																																																																			FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Silent	SNP	19 : 8190867 - 8190867 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	240	33
FBXL12	54850	broad.mit.edu	37	19	9921950	9921950	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9921950G>A	ENST00000247977.4	-	3	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	201							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCAGATAGCTGAGCTCCTGCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	19		NA											NA				9921950		2199	4292	6491	SO:0001819	synonymous_variant			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452	54850	54850		F-boxes / Leucine-rich repeats	13611	protein-coding gene	gene with protein product		609079			NA	10531037	Standard	NM_017703	XM_005259964	NA	Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.603C>T	19.37:g.9921950G>A		NA	B3KSJ8|Q9H5K4	37	CCDS12218.1																																																																																			FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450265.1		-	ENST00000247977.4	Silent	SNP	19 : 9921950 - 9921950 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	231	33
FGF6	2251	broad.mit.edu	37	12	4554454	4554454	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:4554454C>T	ENST00000228837.2	-	1	326	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	95					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGGTGAAAGCCGATGCCCACG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	58	61			NA	NA	12		NA											NA				4554454		2203	4300	6503	SO:0001583	missense			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241	2251	2251		Endogenous ligands	3684	protein-coding gene	gene with protein product		134921			NA	16597617	Standard	NM_020996	NM_020996	NA	Approved		uc001qmr.1	P10767		ENST00000228837.2:c.283G>A	12.37:g.4554454C>T	ENSP00000228837:p.Gly95Ser	NA	Q0VAE1	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310723	0.95629	.	.	ENSG00000111241	ENST00000228837	D	0.82526	-1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.93036	0.6453	10	0.87932	D	0	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	95	P10767	FGF6_HUMAN	S	95	ENSP00000228837:G95S	ENSP00000228837:G95S	G	-	1	0	FGF6	4424715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.636000	0.89361	0.655000	0.94253	GGC	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398939.1		-	ENST00000228837.2	Missense_Mutation	SNP	12 : 4554454 - 4554454 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	231	41
GPR50	9248	broad.mit.edu	37	X	150345311	150345311	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:150345311G>A	ENST00000218316.3	+	1	187	c.118G>A	c.(118-120)Gtt>Att	p.V40I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	40					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TATCACCATCGTTGTAGACCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	141	142			NA	NA	X		NA											NA				150345311		1909	4106	6015	SO:0001583	missense			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195	9248	9248		GPCR / Class A : Orphans	4506	protein-coding gene	gene with protein product		300207			NA	9933574, 18400093	Standard	NM_004224	NM_004224	NA	Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.118G>A	X.37:g.150345311G>A	ENSP00000218316:p.Val40Ile	NA	Q0VGG3|Q3ZAR0	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433766	0.12045	.	.	ENSG00000102195	ENST00000218316	T	0.37411	1.2	4.2	3.34	0.38264	.	0.154979	0.42821	N	0.000654	T	0.16257	0.0391	N	0.08118	0	0.30817	N	0.738223	B	0.24092	0.097	B	0.15870	0.014	T	0.09840	-1.0656	10	0.31617	T	0.26	-12.3268	7.0452	0.25042	0.1279:0.0:0.8721:0.0	.	40	Q13585	MTR1L_HUMAN	I	40	ENSP00000218316:V40I	ENSP00000218316:V40I	V	+	1	0	GPR50	150095969	0.914000	0.31030	0.782000	0.31804	0.022000	0.10575	1.373000	0.34272	0.789000	0.33779	0.292000	0.19580	GTT	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060874.1		+	ENST00000218316.3	Missense_Mutation	SNP	X : 150345311 - 150345311 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	396	105
GRAMD1C	54762	broad.mit.edu	37	3	113595066	113595066	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113595066C>T	ENST00000358160.4	+	5	910	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	140						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AACTGCTCGACTCATCCCAAA	0.303		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	9e-04	SNP								NA				0								C	PHE/LEU	2,4404	4.2+/-10.8	0,2,2201	107	114	112		418	4.3	1	3		112	0,8600		0,0,4300	no	missense	GRAMD1C	NM_017577.4	22	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging	140/663	113595066	2,13004	2203	4300	6503	SO:0001583	missense				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075	54762	54762			25252	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_017577	NM_017577	NA	Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.418C>T	3.37:g.113595066C>T	ENSP00000350881:p.Leu140Phe	NA	A8K9Y1|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	37	CCDS33826.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.99	3.273860	0.59649	4.54E-4	0.0	ENSG00000178075	ENST00000358160	T	0.37584	1.19	5.2	4.33	0.51752	.	0.154190	0.40728	N	0.001026	T	0.39682	0.1087	M	0.79123	2.44	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.37888	-0.9686	10	0.59425	D	0.04	.	11.6383	0.51217	0.0:0.9126:0.0:0.0874	.	140	Q8IYS0	GRM1C_HUMAN	F	140	ENSP00000350881:L140F	ENSP00000350881:L140F	L	+	1	0	GRAMD1C	115077756	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.219000	0.42899	1.331000	0.45412	0.655000	0.94253	CTC	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354733.1		+	ENST00000358160.4	Missense_Mutation	SNP	3 : 113595066 - 113595066 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	650	97
IBSP	3381	broad.mit.edu	37	4	88727301	88727301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:88727301G>T	ENST00000226284.5	+	5	278	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	71	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CGAAGAAAATGGAGATGACAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	82	81			NA	NA	4		NA											NA				88727301		2203	4300	6503	SO:0001587	stop_gained				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559	3381	3381			5341	protein-coding gene	gene with protein product	bone sialoprotein, bone sialoprotein II	147563			NA	8406493	Standard		NM_004967	NA	Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.211G>T	4.37:g.88727301G>T	ENSP00000226284:p.Gly71*	NA		37	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856098	0.97030	.	.	ENSG00000029559	ENST00000226284	.	.	.	5.71	5.71	0.89125	.	0.190255	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.9553	0.86257	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000226284:G71X	G	+	1	0	IBSP	88946325	0.998000	0.40836	0.988000	0.46212	0.981000	0.71138	3.591000	0.53986	2.861000	0.98227	0.650000	0.86243	GGA	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253050.2		+	ENST00000226284.5	Nonsense_Mutation	SNP	4 : 88727301 - 88727301 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	247	35
ITFG3	83986	broad.mit.edu	37	16	313364	313364	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:313364A>T	ENST00000399932.3	+	9	1526	c.1075A>T	c.(1075-1077)Acg>Tcg	p.T359S	ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	359						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCAGGAGCTGACGCCTCGCTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	53	50			NA	NA	16		NA											NA				313364		2178	4270	6448	SO:0001583	missense			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930	83986	83986			14163	protein-coding gene	gene with protein product			chromosome 16 open reading frame 9	C16orf9	NA		Standard	NM_032039	XM_005255622	NA	Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1075A>T	16.37:g.313364A>T	ENSP00000382814:p.Thr359Ser	NA	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	37	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.312|2.312	-0.357614|-0.357614	0.05138|0.05138	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082|ENST00000424016	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	4.23|4.23	-3.04|-3.04	0.05412|0.05412	Quinonprotein alcohol dehydrogenase-like (1);|.	1.032930|.	0.07604|.	N|.	0.924179|.	T|.	0.35068|.	0.0919|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.27559|.	0.181;0.181|.	B;B|.	0.26693|.	0.072;0.072|.	T|.	0.39663|.	-0.9603|.	10|.	0.12430|.	T|.	0.62|.	-19.7556|-19.7556	6.642|6.642	0.22914|0.22914	0.5895:0.1307:0.2798:0.0|0.5895:0.1307:0.2798:0.0	.|.	359;359|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	S|C	359|50	ENSP00000382814:T359S;ENSP00000301679:T359S;ENSP00000397477:T359S;ENSP00000301678:T359S;ENSP00000411394:T359S|.	ENSP00000301678:T359S|.	T|X	+|+	1|3	0|0	ITFG3|ITFG3	253365|253365	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	-0.408000|-0.408000	0.07169|0.07169	-0.463000|-0.463000	0.06973|0.06973	0.459000|0.459000	0.35465|0.35465	ACG|TGA	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134227.2		+	ENST00000399932.3	Missense_Mutation	SNP	16 : 313364 - 313364 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	292	28
ITGA4	3676	broad.mit.edu	37	2	182347132	182347132	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:182347132G>C	ENST00000397033.2	+	8	1316	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	296					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATCTTACATGAAATGAAAGG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	102	104			NA	NA	2		NA											NA				182347132		1829	4091	5920	SO:0001583	missense				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232	3676	3676		CD molecules, Integrins	6140	protein-coding gene	gene with protein product		192975		CD49D	NA	1537388	Standard		NM_000885	NA	Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.886G>C	2.37:g.182347132G>C	ENSP00000380227:p.Glu296Gln	NA	D3DPG4	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490462	0.44249	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.14516	2.5;2.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.37697	1.125	0.52501	D	0.999957	B;D	0.54772	0.22;0.968	B;P	0.51016	0.109;0.656	T	0.02020	-1.1228	10	0.13108	T	0.6	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	296;296	E7EP60;P13612	.;ITA4_HUMAN	Q	296	ENSP00000380227:E296Q;ENSP00000233573:E296Q	ENSP00000233573:E296Q	E	+	1	0	ITGA4	182055377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.846000	0.69444	2.794000	0.96219	0.650000	0.86243	GAA	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334427.1		+	ENST00000397033.2	Missense_Mutation	SNP	2 : 182347132 - 182347132 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	465	19
KCNJ12	3768	broad.mit.edu	37	17	21318787	21318787	+	Missense_Mutation	SNP	C	C	T	rs144531040	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:21318787C>T	ENST00000583088.1	+	3	1028	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTGCCGCAACCGCTTCGTCAA	0.602		NA								Prostate(3;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	145	104	118		133	5.2	1	17	dbSNP_134	118	0,8600		0,0,4300	yes	missense	KCNJ12	NM_021012.4	180	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	probably-damaging	45/434	21318787	2,13004	2203	4300	6503	SO:0001583	missense			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185	3768	3768		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6258	protein-coding gene	gene with protein product		602323	potassium inwardly-rectifying channel, subfamily J, inhibitor 1	KCNJN1	NA	7859381, 12417321, 16382105	Standard	NM_021012	NM_021012	NA	Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.133C>T	17.37:g.21318787C>T	ENSP00000463778:p.Arg45Cys	NA		37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885465	0.72410	4.54E-4	0.0	ENSG00000184185	ENST00000331718	T	0.62364	0.03	5.21	5.21	0.72293	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78650	-0.2121	10	0.87932	D	0	.	12.9232	0.58245	0.2733:0.7267:0.0:0.0	.	45	Q14500	IRK12_HUMAN	C	45	ENSP00000328150:R45C	ENSP00000328150:R45C	R	+	1	0	KCNJ12	21259380	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.907000	0.56348	2.444000	0.82710	0.591000	0.81541	CGC	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255060.2		+	ENST00000583088.1	Missense_Mutation	SNP	17 : 21318787 - 21318787 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	224	9
KCNK15	60598	broad.mit.edu	37	20	43374752	43374752	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:43374752C>A	ENST00000372861.3	+	1	332	c.201C>A	c.(199-201)ctC>ctA	p.L67L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	67						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCTGGCGCTCCAGGCTGAGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	11	10			NA	NA	20		NA											NA				43374752		2138	4236	6374	SO:0001819	synonymous_variant			AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249	60598	60598		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14	NA	11409881, 11431495, 16382106	Standard	NM_022358	NM_022358	NA	Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.201C>A	20.37:g.43374752C>A		NA	Q52LL3|Q9HBC8	37	CCDS13337.1																																																																																			KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079378.2		+	ENST00000372861.3	Silent	SNP	20 : 43374752 - 43374752 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	137	38
KIAA0100	9703	broad.mit.edu	37	17	26971150	26971150	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:26971150G>C	ENST00000528896.2	-	2	198	c.124C>G	c.(124-126)Cta>Gta	p.L42V	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	42						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCAATCTTTAGCTCCGCCTGC	0.473		NA									OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	71	68			NA	NA	17		NA											NA				26971150		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.124C>G	17.37:g.26971150G>C	ENSP00000436773:p.Leu42Val	790	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828801	0.32329	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.23552	1.9	5.32	1.1	0.20463	FMP27, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.992	T	0.01591	-1.1317	10	0.31617	T	0.26	.	8.9329	0.35682	0.3431:0.0:0.6569:0.0	.	42;42	F6XS94;Q14667	.;K0100_HUMAN	V	42	ENSP00000436773:L42V	ENSP00000005905:L42V	L	-	1	2	KIAA0100	23995277	1.000000	0.71417	0.919000	0.36401	0.996000	0.88848	2.540000	0.45727	0.062000	0.16340	0.655000	0.94253	CTA	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26971150 - 26971150 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	629	91
KMT2B	9757	broad.mit.edu	37	19	36220898	36220898	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:36220898A>G	ENST00000420124.1	+	23	4948	c.4948A>G	c.(4948-4950)Acg>Gcg	p.T1650A	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.T1650A					lysine (K)-specific methyltransferase 2B	NA											NA						GCCTGGCGCCACGGTGGGCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	19		NA											NA				36220898		2122	4231	6353	SO:0001583	missense			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333	9757	9757		Chromatin-modifying enzymes / K-methyltransferases	15840	protein-coding gene	gene with protein product	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4	606834			NA	10409430, 10637508	Standard	NM_014727	XM_006723513	NA	Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000420124.1:c.4948A>G	19.37:g.36220898A>G	ENSP00000398837:p.Thr1650Ala	NA		37		.	.	.	.	.	.	.	.	.	.	A	16.25	3.068919	0.55539	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.71103	-0.54;-0.54	5.23	5.23	0.72850	Zinc finger, PHD-type (1);	0.000000	0.46145	D	0.000306	T	0.81758	0.4890	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83762	0.0215	10	0.87932	D	0	.	14.2408	0.65956	1.0:0.0:0.0:0.0	.	1650	Q9UMN6	MLL4_HUMAN	A	1650	ENSP00000222270:T1650A;ENSP00000398837:T1650A	ENSP00000222270:T1650A	T	+	1	0	AD000671.1	40912738	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.039000	0.93777	2.200000	0.70718	0.459000	0.35465	ACG	KMT2B-203	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000420124.1	Missense_Mutation	SNP	19 : 36220898 - 36220898 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	169	22
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	388	43
KRTAP10-9	386676	broad.mit.edu	37	21	46047922	46047922	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:46047922C>T	ENST00000397911.3	+	1	883	c.834C>T	c.(832-834)cgC>cgT	p.R278R	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	278						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGCTCCCGCCCGGCCTGCT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	75	70			NA	NA	21		NA											NA				46047922		2193	4288	6481	SO:0001819	synonymous_variant			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837	386676	386676		Keratin associated proteins	22971	protein-coding gene	gene with protein product				KRTAP18-9	NA		Standard		NM_198690	NA	Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.834C>T	21.37:g.46047922C>T		NA	A2RRG1|A6NIR9|Q70LJ1	37	CCDS42961.1																																																																																			KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128040.1		+	ENST00000397911.3	Silent	SNP	21 : 46047922 - 46047922 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	475	87
LAMB3	3914	broad.mit.edu	37	1	209799171	209799171	+	Missense_Mutation	SNP	C	C	G	rs35794952		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:209799171C>G	ENST00000356082.4	-	14	1932	c.1798G>C	c.(1798-1800)Ggt>Cgt	p.G600R	LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000391911.1_Missense_Mutation_p.G600R	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	600	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGAGTCTACCAAAGCGCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	1		NA											NA				209799171		2203	4300	6503	SO:0001583	missense			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878	3914	3914		Laminins	6490	protein-coding gene	gene with protein product		150310	laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))	LAMNB1	NA	8088808, 7774918	Standard	NM_000228	NM_001127641	NA	Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1798G>C	1.37:g.209799171C>G	ENSP00000348384:p.Gly600Arg	NA	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157369	0.06544	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.34667	1.35;1.35;1.35	5.14	-3.05	0.05396	.	1.305210	0.04711	N	0.417607	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.14656	T	0.56	.	8.4291	0.32746	0.0:0.4658:0.1106:0.4235	.	600	Q13751	LAMB3_HUMAN	R	600	ENSP00000375778:G600R;ENSP00000348384:G600R;ENSP00000355997:G600R	ENSP00000348384:G600R	G	-	1	0	LAMB3	207865794	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-1.769000	0.01792	-0.858000	0.04110	0.456000	0.33151	GGT	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088525.2		-	ENST00000356082.4	Missense_Mutation	SNP	1 : 209799171 - 209799171 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	205	30
MATN2	4147	broad.mit.edu	37	8	99019798	99019798	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99019798C>T	ENST00000521689.1	+	10	2016	c.1542C>T	c.(1540-1542)caC>caT	p.H514H	MATN2_ENST00000520016.1_Silent_p.H514H|MATN2_ENST00000254898.5_Silent_p.H514H|MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000522025.2_Silent_p.H230H			O00339	MATN2_HUMAN	matrilin 2	514	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGAGGGACACGTGCTCCGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	142	143			NA	NA	8		NA											NA				99019798		2140	4250	6390	SO:0001819	synonymous_variant			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15					4147	4147			6908	protein-coding gene	gene with protein product		602108			NA	9083061, 11852232	Standard		XM_005250920	NA	Approved		uc003yic.3	O00339		ENST00000521689.1:c.1542C>T	8.37:g.99019798C>T		NA	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	37	CCDS55265.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.186741	0.01620	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.65	-7.32	0.01436	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-16.2738	16.4012	0.83641	0.0:0.2847:0.0:0.7153	.	.	.	.	C	297	.	.	R	+	1	0	MATN2	99088974	0.000000	0.05858	0.037000	0.18230	0.086000	0.17979	-1.867000	0.01646	-1.505000	0.01807	-1.553000	0.00894	CGT	MATN2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380327.1		+	ENST00000521689.1	Silent	SNP	8 : 99019798 - 99019798 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	407	70
MBTD1	54799	broad.mit.edu	37	17	49272667	49272667	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49272667C>T	ENST00000586178.1	-	13	1623	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCAGTCAGATCCGTCTGCTGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	100	106			NA	NA	17		NA											NA				49272667		2203	4300	6503	SO:0001583	missense			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258	NA	54799			19866	protein-coding gene	gene with protein product					NA		Standard		NM_017643	NA	Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1280G>A	17.37:g.49272667C>T	ENSP00000468304:p.Gly427Glu	NA	Q6ZVU7|Q9NXU1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	34	5.328880	0.95733	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.40476	1.03	5.36	5.36	0.76844	.	0.105548	0.64402	D	0.000004	T	0.60818	0.2298	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	T	0.62267	-0.6890	10	0.87932	D	0	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	427;263	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	E	427	ENSP00000403946:G427E	ENSP00000386072:G427E	G	-	2	0	MBTD1	46627666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.665000	0.90641	0.643000	0.83706	GGA	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318124.1		-	ENST00000586178.1	Missense_Mutation	SNP	17 : 49272667 - 49272667 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	432	50
MEGF8	1954	broad.mit.edu	37	19	42848986	42848986	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:42848986G>C	ENST00000334370.4	+	12	2732		c.e12+1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	NA						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGACAAGGTGGGTAGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	61			NA	NA	19		NA											NA				42848986		2203	4300	6503	SO:0001630	splice_region_variant			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.2097+1G>C	19.37:g.42848986G>C		NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	g	16.72	3.201977	0.58234	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47540826	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.593000	0.90832	2.288000	0.76882	0.457000	0.33378	.	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1	Intron	+	ENST00000334370.4	Splice_Site	SNP	19 : 42848986 - 42848986 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	477	35
MFSD7	84179	broad.mit.edu	37	4	678335	678335	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:678335G>C	ENST00000503156.1	-	6	672	c.585C>G	c.(583-585)atC>atG	p.I195M	MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M|MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000404286.2_Missense_Mutation_p.I260M|MFSD7_ENST00000322224.4_Missense_Mutation_p.I259M			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	260					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGAGATCCCGATCATTCCCC	0.642		NA									OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	100			NA	NA	4		NA											NA				678335		2203	4300	6503	SO:0001583	missense			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026	84179	84179		Solute carriers	26177	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_032219	XM_005272295	NA	Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000503156.1:c.585C>G	4.37:g.678335G>C	ENSP00000425753:p.Ile195Met	590	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	37		.	.	.	.	.	.	.	.	.	.	G	9.541	1.113390	0.20795	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000507165	T;T;T;T;T;T	0.58358	0.34;0.45;0.45;0.34;0.45;0.45	4.73	-6.09	0.02145	Major facilitator superfamily domain, general substrate transporter (1);	0.365001	0.28011	N	0.016960	T	0.53334	0.1790	L	0.55103	1.725	0.09310	N	1	D;D;D;P;D	0.58970	0.98;0.984;0.968;0.906;0.975	P;P;P;P;P	0.59171	0.853;0.777;0.841;0.77;0.639	T	0.55147	-0.8186	10	0.42905	T	0.14	-14.7166	9.9496	0.41631	0.7043:0.1275:0.1682:0.0	.	195;163;141;260;259	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	M	141;259;260;163;195;196	ENSP00000307545:I141M;ENSP00000320234:I259M;ENSP00000384616:I260M;ENSP00000423204:I163M;ENSP00000425753:I195M;ENSP00000424556:I196M	ENSP00000320234:I259M	I	-	3	3	MFSD7	668335	0.041000	0.20044	0.000000	0.03702	0.002000	0.02628	-0.702000	0.05069	-1.401000	0.02058	0.460000	0.39030	ATC	MFSD7-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358586.2		-	ENST00000503156.1	Missense_Mutation	SNP	4 : 678335 - 678335 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	596	82
MKI67	4288	broad.mit.edu	37	10	129903384	129903384	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129903384C>G	ENST00000368654.3	-	13	7095	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2240	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGACTTCTCTTGGACTGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													264	253	257			NA	NA	10		NA											NA				129903384		2203	4300	6503	SO:0001583	missense			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6720G>C	10.37:g.129903384C>G	ENSP00000357643:p.Lys2240Asn	NA	Q5VWH2	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061815	0.36373	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03635	3.86;3.86	3.07	2.15	0.27550	.	0.672301	0.12961	N	0.425010	T	0.12433	0.0302	M	0.68952	2.095	0.09310	N	1	D;D;D	0.76494	0.991;0.992;0.999	P;D;D	0.72982	0.8;0.921;0.979	T	0.12066	-1.0562	10	0.30078	T	0.28	.	8.7284	0.34483	0.0:0.8779:0.0:0.1221	.	2239;1880;2240	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2240;1880;2239	ENSP00000357643:K2240N;ENSP00000357642:K1880N	ENSP00000357642:K1880N	K	-	3	2	MKI67	129793374	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.058000	0.14301	1.716000	0.51395	0.561000	0.74099	AAG	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Missense_Mutation	SNP	10 : 129903384 - 129903384 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	1502	239
MYH10	4628	broad.mit.edu	37	17	8398511	8398511	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8398511C>A	ENST00000360416.3	-	31	4138	c.4000G>T	c.(4000-4002)Ggt>Tgt	p.G1334C	MYH10_ENST00000269243.4_Missense_Mutation_p.G1303C|MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1303					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTAATACCCTTCTTCTCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	131	133			NA	NA	17		NA											NA				8398511		2203	4300	6503	SO:0001583	missense			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026	4628	4628		Myosins / Myosin superfamily : Class II	7568	protein-coding gene	gene with protein product		160776	myosin, heavy polypeptide 10, non-muscle		NA	1860190	Standard		NM_001256012	NA	Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000360416.3:c.4000G>T	17.37:g.8398511C>A	ENSP00000353590:p.Gly1334Cys	NA	Q12989|Q149N3|Q16087	37	CCDS58515.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118677	0.37436	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Myosin tail (1);	0.051033	0.85682	D	0.000000	T	0.66416	0.2787	N	0.13098	0.295	0.58432	D	0.999996	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.005	T	0.63514	-0.6620	10	0.62326	D	0.03	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	1312;1334;1303	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	1303;1334;1324;1319	ENSP00000269243:G1303C;ENSP00000353590:G1334C;ENSP00000379539:G1324C;ENSP00000369315:G1319C	ENSP00000269243:G1303C	G	-	1	0	MYH10	8339236	0.212000	0.23540	0.973000	0.42090	0.977000	0.68977	0.960000	0.29253	2.688000	0.91661	0.655000	0.94253	GGT	MYH10-002	PUTATIVE	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258891.1		-	ENST00000360416.3	Missense_Mutation	SNP	17 : 8398511 - 8398511 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	222	11
NCAPG	64151	broad.mit.edu	37	4	17839269	17839269	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:17839269G>C	ENST00000251496.2	+	16	2487	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	771					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGAATGCTTTGAAGAAGCTTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	150	150			NA	NA	4		NA											NA				17839269		2203	4300	6503	SO:0001583	missense			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805	64151	64151			24304	protein-coding gene	gene with protein product	chromosome condensation protein G	606280			NA	10910072, 11136719	Standard	NM_022346	NM_022346	NA	Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2311G>C	4.37:g.17839269G>C	ENSP00000251496:p.Glu771Gln	NA	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257970	0.80246	.	.	ENSG00000109805	ENST00000251496	T	0.31769	1.48	5.55	4.71	0.59529	Armadillo-type fold (1);	0.044582	0.85682	D	0.000000	T	0.54565	0.1866	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.56517	-0.7966	10	0.45353	T	0.12	-21.4946	14.1271	0.65228	0.0721:0.0:0.9279:0.0	.	771	Q9BPX3	CND3_HUMAN	Q	771	ENSP00000251496:E771Q	ENSP00000251496:E771Q	E	+	1	0	NCAPG	17448367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.813000	0.91963	1.339000	0.45563	0.591000	0.81541	GAA	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250375.1		+	ENST00000251496.2	Missense_Mutation	SNP	4 : 17839269 - 17839269 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	898	133
NCOA2	10499	broad.mit.edu	37	8	71082538	71082538	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:71082538A>G	ENST00000452400.2	-	6	621	c.440T>C	c.(439-441)cTa>cCa	p.L147P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	147	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTATACCTTAGATACTGTGT	0.418		NA	T	RUNXBP2, HEY1	AML, Chondrosarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													113	100	104			NA	NA	8		NA											NA				71082538		1893	4116	6009	SO:0001583	missense			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396	10499	10499		Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins	7669	protein-coding gene	gene with protein product		601993			NA	9111344, 8670870	Standard		XM_005251128	NA	Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.440T>C	8.37:g.71082538A>G	ENSP00000399968:p.Leu147Pro	NA	Q14CD2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567322	0.86439	.	.	ENSG00000140396	ENST00000452400	T	0.24908	1.83	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80125	-0.1513	10	0.87932	D	0	.	15.5729	0.76354	1.0:0.0:0.0:0.0	.	147	Q15596	NCOA2_HUMAN	P	147	ENSP00000399968:L147P	ENSP00000399968:L147P	L	-	2	0	NCOA2	71245092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.074000	0.62210	0.528000	0.53228	CTA	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379696.1		-	ENST00000452400.2	Missense_Mutation	SNP	8 : 71082538 - 71082538 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	102	15
NOS1	4842	broad.mit.edu	37	12	117693813	117693813	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:117693813C>T	ENST00000338101.4	-	16	2565	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGCCCTTTACGGGGAAAGAA	0.602		NA											C	1	5e-04	NA	0.0028	2184	NA	0.999	,	,	NA	3e-04	NA	NA	NA	9e-04	0.5367	LOWCOV	NA	NA	2e-04	SNP	Esophageal Squamous(162;1748 2599 51982 52956)							NA				0								C	,,,HIS/ARG	1,1751		0,1,875	155	140	145		,,,2561	5.9	1	12		145	2,3980		0,2,1989	yes	intron,intron,intron,missense	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,29	0,3,2864	TT,TC,CC	NA	0.0502,0.0571,0.0523	,,,	,,,854/1469	117693813	3,5731	876	1991	2867	SO:0001583	missense				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	4842	4842	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS	NA	1385308, 7682706	Standard		NM_001204213	NA	Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2561G>A	12.37:g.117693813C>T	ENSP00000337459:p.Arg854His	NA		37	CCDS55890.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.6	4.549961	0.86127	5.71E-4	5.02E-4	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.01388	4.95	5.93	5.93	0.95920	.	.	.	.	.	T	0.02455	0.0075	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.73132	-0.4079	7	0.29301	T	0.29	-6.7644	15.854	0.78960	0.0:1.0:0.0:0.0	.	.	.	.	H	854;20	ENSP00000337459:R854H	ENSP00000337459:R854H	R	-	2	0	NOS1	116178196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.826000	0.97356	0.655000	0.94253	CGT	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268053.1		-	ENST00000338101.4	Missense_Mutation	SNP	12 : 117693813 - 117693813 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	533	72
NPAP1	23742	broad.mit.edu	37	15	24922695	24922695	+	Missense_Mutation	SNP	G	G	A	rs142710386	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:24922695G>A	ENST00000329468.2	+	1	2155	c.1681G>A	c.(1681-1683)Gca>Aca	p.A561T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						CACAACAAACGCATCTGCCCA	0.478		NA												2	9e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0026	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	0.0013	SNP								NA				0								A	THR/ALA	0,4406		0,0,2203	157	145	149		1681	-3.7	0	15	dbSNP_134	149	1,8599		0,1,4299	yes	missense	C15orf2	NM_018958.2	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	561/1157	24922695	1,13005	2203	4300	6503	SO:0001583	missense			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823	23742	23742			1190	protein-coding gene	gene with protein product		610922	chromosome 15 open reading frame 2	C15orf2	NA	10783265, 22694955	Standard	NM_018958	NM_018958	NA	Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1681G>A	15.37:g.24922695G>A	ENSP00000333735:p.Ala561Thr	NA		37	CCDS10015.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	0.486	-0.877804	0.02550	0.0	1.16E-4	ENSG00000185823	ENST00000329468	T	0.07216	3.21	1.82	-3.65	0.04502	.	1.710450	0.03694	N	0.247481	T	0.03178	0.0093	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38499	-0.9658	10	0.22706	T	0.39	.	4.0575	0.09823	0.4197:0.0:0.4166:0.1637	.	561	Q9NZP6	CO002_HUMAN	T	561	ENSP00000333735:A561T	ENSP00000333735:A561T	A	+	1	0	C15orf2	22473788	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.339000	0.02652	-1.812000	0.01227	-2.451000	0.00208	GCA	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251253.1		+	ENST00000329468.2	Missense_Mutation	SNP	15 : 24922695 - 24922695 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	580	81
OBSCN	84033	broad.mit.edu	37	1	228562337	228562337	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:228562337A>G	ENST00000570156.2	+	108	25492	c.25418A>G	c.(25417-25419)aAg>aGg	p.K8473R	OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K7516R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7516					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACCCTCAAGAACTTCCAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	101	97			NA	NA	1		NA											NA				228562337		2097	4225	6322	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.25418A>G	1.37:g.228562337A>G	ENSP00000455507:p.Lys8473Arg	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954837	0.92726	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	D;D	0.82526	-1.62;-1.62	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220098	0.36628	N	0.002485	D	0.84624	0.5513	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84121	0.0406	10	0.33141	T	0.24	.	15.0022	0.71483	1.0:0.0:0.0:0.0	.	7516	Q5VST9	OBSCN_HUMAN	R	7516;5150	ENSP00000409493:K7516R;ENSP00000355668:K5150R	ENSP00000355668:K5150R	K	+	2	0	OBSCN	226628960	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.428000	0.66489	1.960000	0.56953	0.459000	0.35465	AAG	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228562337 - 228562337 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	616	85
OR2B11	127623	broad.mit.edu	37	1	247614391	247614391	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATATCTTTATTTCTCAGGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	200	195			NA	NA	1		NA											NA				247614391		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535	127623	127623		GPCR / Class A : Olfactory receptors	31249	protein-coding gene	gene with protein product					NA		Standard	NM_001004492	NM_001004492	NA	Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.894T>C	1.37:g.247614391A>G		NA	B2RP03	37	CCDS31090.1																																																																																			OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097620.1		-	ENST00000318749.6	Silent	SNP	1 : 247614391 - 247614391 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	1429	244
OR4B1	119765	broad.mit.edu	37	11	48238701	48238701	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:48238701G>A	ENST00000309562.2	+	1	358	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V114L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTTTGATTGTGGTGATGGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											163	157	159			NA	NA	11		NA											NA				48238701		2201	4298	6499	SO:0001583	missense			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619	119765	119765		GPCR / Class A : Olfactory receptors	8290	protein-coding gene	gene with protein product					NA		Standard	NM_001005470	NM_001005470	NA	Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.340G>A	11.37:g.48238701G>A	ENSP00000311605:p.Val114Met	NA	Q6IF75|Q96R64	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350283	0.41599	.	.	ENSG00000175619	ENST00000309562	T	0.00502	6.95	5.24	0.588	0.17445	GPCR, rhodopsin-like superfamily (1);	0.647154	0.13543	N	0.380012	T	0.00637	0.0021	L	0.33710	1.025	0.09310	N	1	P	0.42248	0.774	P	0.52909	0.713	T	0.53830	-0.8383	10	0.56958	D	0.05	.	8.0126	0.30361	0.4392:0.0:0.5608:0.0	.	114	Q8NGF8	OR4B1_HUMAN	M	114	ENSP00000311605:V114M	ENSP00000311605:V114M	V	+	1	0	OR4B1	48195277	0.000000	0.05858	0.407000	0.26434	0.736000	0.42039	-0.124000	0.10595	0.199000	0.20427	0.385000	0.25706	GTG	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390554.1		+	ENST00000309562.2	Missense_Mutation	SNP	11 : 48238701 - 48238701 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	778	116
PCDHB2	56133	broad.mit.edu	37	5	140475321	140475321	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140475321C>T	ENST00000194155.4	+	1	1095	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	316	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATCCAGACATACACAGTA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	96	95			NA	NA	5		NA											NA				140475321		2203	4300	6503	SO:0001583	missense			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852	56133	56133		Cadherins / Protocadherins : Clustered	8687	other	protocadherin		606328			NA	10380929	Standard	NM_018936	NM_018936	NA	Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.947C>T	5.37:g.140475321C>T	ENSP00000194155:p.Thr316Ile	NA	Q4KMU1	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	2.170	-0.390128	0.04932	.	.	ENSG00000112852	ENST00000194155	T	0.52057	0.68	5.38	0.0927	0.14474	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.31420	0.0796	L	0.38733	1.17	0.09310	N	1	B	0.22541	0.071	B	0.21546	0.035	T	0.22556	-1.0213	9	0.23302	T	0.38	.	4.5758	0.12232	0.3845:0.2605:0.2888:0.0662	.	316	Q9Y5E7	PCDB2_HUMAN	I	316	ENSP00000194155:T316I	ENSP00000194155:T316I	T	+	2	0	PCDHB2	140455505	0.000000	0.05858	0.135000	0.22099	0.049000	0.14656	-3.545000	0.00435	0.020000	0.15106	0.650000	0.86243	ACA	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251801.2		+	ENST00000194155.4	Missense_Mutation	SNP	5 : 140475321 - 140475321 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	397	54
PCDHGC5	56097	broad.mit.edu	37	5	140869580	140869580	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140869580G>A	ENST00000252087.1	+	1	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D	PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	258	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCATTGGTACTCTGCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	177	177			NA	NA	5		NA											NA				140869580		2203	4300	6503	SO:0001583	missense			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764	56097	56097		Cadherins / Protocadherins : Clustered	8718	other	protocadherin		606306			NA	10380929	Standard	NM_018929	NM_018929	NA	Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.773G>A	5.37:g.140869580G>A	ENSP00000252087:p.Gly258Asp	NA	Q9Y5C2	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638018	0.29157	.	.	ENSG00000240764	ENST00000252087	T	0.04454	3.62	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.13286	0.0322	M	0.66506	2.035	0.58432	D	0.999995	B;P	0.48294	0.311;0.908	B;P	0.51777	0.334;0.679	T	0.00032	-1.2273	10	0.51188	T	0.08	.	13.4893	0.61386	0.0718:0.0:0.9282:0.0	.	258;258	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	D	258	ENSP00000252087:G258D	ENSP00000252087:G258D	G	+	2	0	PCDHGC5	140849764	1.000000	0.71417	0.569000	0.28460	0.003000	0.03518	5.776000	0.68924	2.890000	0.99128	0.655000	0.94253	GGT	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251819.1		+	ENST00000252087.1	Missense_Mutation	SNP	5 : 140869580 - 140869580 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	749	115
PCYT2	5833	broad.mit.edu	37	17	79866869	79866869	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:79866869C>T	ENST00000538936.2	-	3	331	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	75	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGTATCTCTCCTCCTGAGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	115			NA	NA	17		NA											NA				79866869		2203	4296	6499	SO:0001583	missense			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813	5833	5833			8756	protein-coding gene	gene with protein product		602679			NA	9083101	Standard	NM_002861	XM_005256386	NA	Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.223G>A	17.37:g.79866869C>T	ENSP00000439245:p.Glu75Lys	NA	Q6IBM3|Q96G08	37	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206311	0.95033	.	.	ENSG00000185813	ENST00000538721;ENST00000538936	D;D	0.97256	-4.31;-4.31	4.25	4.25	0.50352	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.99793	1.1032	10	0.87932	D	0	-43.1461	16.8397	0.85965	0.0:1.0:0.0:0.0	.	43;43;75;75	B7Z4W6;B7ZAS0;F5H8B1;Q99447	.;.;.;PCY2_HUMAN	K	75	ENSP00000442050:E75K;ENSP00000439245:E75K	ENSP00000442050:E75K	E	-	1	0	PCYT2	77460161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.330000	0.65899	2.197000	0.70478	0.561000	0.74099	GAG	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439939.1		-	ENST00000538936.2	Missense_Mutation	SNP	17 : 79866869 - 79866869 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	280	38
PDCD11	22984	broad.mit.edu	37	10	105158241	105158241	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:105158241G>C	ENST00000369797.3	+	2	152	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCACAAACCAGAGAAAGCTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	128	131			NA	NA	10		NA											NA				105158241		2203	4300	6503	SO:0001583	missense			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843	22984	22984			13408	protein-coding gene	gene with protein product		612333			NA	10229231	Standard		XM_005269647	NA	Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.58G>C	10.37:g.105158241G>C	ENSP00000358812:p.Glu20Gln	NA	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462398	0.43736	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.13420	2.59	5.3	5.3	0.74995	.	0.452187	0.25628	N	0.029371	T	0.17619	0.0423	M	0.69523	2.12	0.26868	N	0.967807	B	0.32620	0.378	B	0.36289	0.221	T	0.11842	-1.0571	10	0.29301	T	0.29	-23.9668	9.3697	0.38246	0.1602:0.0:0.8398:0.0	.	20	Q14690	RRP5_HUMAN	Q	20	ENSP00000358812:E20Q	ENSP00000358812:E20Q	E	+	1	0	PDCD11	105148231	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.614000	0.61183	2.499000	0.84300	0.555000	0.69702	GAG	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050151.1		+	ENST00000369797.3	Missense_Mutation	SNP	10 : 105158241 - 105158241 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	237	36
PDE8B	8622	broad.mit.edu	37	5	76646926	76646926	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:76646926G>A	ENST00000264917.5	+	9	1099	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	352					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.G352R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACGGAAATCCGGGGACAGCAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											122	113	116			NA	NA	5		NA											NA				76646926		2203	4300	6503	SO:0001583	missense			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	8622	8622	3.1.4.17	Phosphodiesterases	8794	protein-coding gene	gene with protein product		603390			NA	9784418	Standard	NM_003719	NM_003719	NA	Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1054G>A	5.37:g.76646926G>A	ENSP00000264917:p.Gly352Arg	NA	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260123	0.95368	.	.	ENSG00000113231	ENST00000340978;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	D;D;D;D;T	0.87179	-2.22;-2.22;-2.22;-2.22;-0.39	5.39	5.39	0.77823	PAS (1);PAS fold (1);	0.588962	0.18116	N	0.151194	D	0.96021	0.8704	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.984;0.988;0.984;0.993	D	0.96973	0.9710	10	0.62326	D	0.03	.	17.9374	0.89017	0.0:0.0:1.0:0.0	.	305;352;332;352	O95263-6;O95263-3;O95263-4;O95263	.;.;.;PDE8B_HUMAN	R	305;352;332;352;114	ENSP00000345446:G305R;ENSP00000264917:G352R;ENSP00000345646:G332R;ENSP00000331336:G352R;ENSP00000422861:G114R	ENSP00000264917:G352R	G	+	1	0	PDE8B	76682682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.494000	0.97962	2.528000	0.85240	0.563000	0.77884	GGG	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220015.3		+	ENST00000264917.5	Missense_Mutation	SNP	5 : 76646926 - 76646926 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	114	13
PKD1L1	168507	broad.mit.edu	37	7	47842826	47842826	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:47842826G>T	ENST00000289672.2	-	53	7994	c.7944C>A	c.(7942-7944)ccC>ccA	p.P2648P	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2648					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAAAGATGCTGGGGAGTGAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	119	122			NA	NA	7		NA											NA				47842826		2203	4300	6503	SO:0001819	synonymous_variant			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7944C>A	7.37:g.47842826G>T		NA	Q6UWK1	37	CCDS34633.1																																																																																			PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Silent	SNP	7 : 47842826 - 47842826 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	340	41
POLE	5426	broad.mit.edu	37	12	133240667	133240667	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:133240667C>G	ENST00000320574.5	-	23	2672	c.2629G>C	c.(2629-2631)Gtc>Ctc	p.V877L	POLE_ENST00000535270.1_Missense_Mutation_p.V850L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	877					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTCTTGAAGACAAAATTTTCT	0.517		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	199	200			NA	NA	12		NA											NA				133240667		2203	4300	6503	SO:0001583	missense				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084	5426	5426		DNA polymerases	9177	protein-coding gene	gene with protein product	DNA polymerase epsilon catalytic subunit A	174762	polymerase (DNA directed), epsilon		NA	8020968	Standard	NM_006231	NM_006231	NA	Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2629G>C	12.37:g.133240667C>G	ENSP00000322570:p.Val877Leu	NA	Q13533|Q86VH9	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357675	0.41801	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.13778	4.22;4.22;4.22;2.56	5.57	5.57	0.84162	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.42245	1.32	0.58432	D	0.999996	P;B	0.36959	0.575;0.261	B;B	0.39876	0.312;0.243	T	0.00912	-1.1517	10	0.49607	T	0.09	.	19.5987	0.95551	0.0:1.0:0.0:0.0	.	850;877	F5H1D6;Q07864	.;DPOE1_HUMAN	L	877;888;850;657;812	ENSP00000322570:V877L;ENSP00000406383:V888L;ENSP00000445753:V850L;ENSP00000442519:V657L	ENSP00000322570:V877L	V	-	1	0	POLE	131750740	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	4.943000	0.63554	2.640000	0.89533	0.638000	0.83543	GTC	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397689.2		-	ENST00000320574.5	Missense_Mutation	SNP	12 : 133240667 - 133240667 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	281	44
POP1	10940	broad.mit.edu	37	8	99170241	99170241	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99170241G>T	ENST00000401707.2	+	16	2898	c.2817G>T	c.(2815-2817)ggG>ggT	p.G939G	POP1_ENST00000349693.3_Silent_p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	939					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCGTGGCTGGGCAGGAAGCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	95	91			NA	NA	8		NA											NA				99170241		2203	4300	6503	SO:0001819	synonymous_variant			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356	10940	10940			30129	protein-coding gene	gene with protein product	processing of precursors 1	602486			NA	10199568, 8918471	Standard	NM_015029	NM_015029	NA	Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2817G>T	8.37:g.99170241G>T		NA	A8K5W9|Q15037	37	CCDS6277.1																																																																																			POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379470.1		+	ENST00000401707.2	Silent	SNP	8 : 99170241 - 99170241 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	532	9
PPARGC1B	133522	broad.mit.edu	37	5	149216585	149216585	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:149216585C>G	ENST00000309241.5	+	8	2599	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	856					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCTCAAGCTCTGGCTCTTCA	0.637		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	5		NA											NA				149216585		2203	4300	6503	SO:0001583	missense			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846	133522	133522		RNA binding motif (RRM) containing	30022	protein-coding gene	gene with protein product		608886	peroxisome proliferative activated receptor, gamma, coactivator 1, beta		NA	11793024, 11854298	Standard	NM_133263	NM_133263	NA	Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2567C>G	5.37:g.149216585C>G	ENSP00000312649:p.Ser856Cys	NA	A2RUM8|A2RUN0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013777	0.75161	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.8	5.8	0.92144	.	0.619197	0.15973	N	0.235681	T	0.72277	0.3440	M	0.62723	1.935	0.52501	D	0.999955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.998;0.999	T	0.71859	-0.4465	10	0.72032	D	0.01	-20.0049	18.2397	0.89963	0.0:1.0:0.0:0.0	.	835;835;817;856;856	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	C	817;856;856;792	ENSP00000353638:S817C;ENSP00000377855:S856C;ENSP00000312649:S856C;ENSP00000384403:S792C	ENSP00000312649:S856C	S	+	2	0	PPARGC1B	149196778	0.997000	0.39634	0.975000	0.42487	0.977000	0.68977	3.862000	0.56009	2.747000	0.94245	0.462000	0.41574	TCT	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252334.1		+	ENST00000309241.5	Missense_Mutation	SNP	5 : 149216585 - 149216585 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	575	77
PPP2R1A	5518	broad.mit.edu	37	19	52709296	52709296	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:52709296G>C	ENST00000322088.6	+	3	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	84	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGGAGGCCCAGAGTACGTGCA	0.607		NA	Mis		clear cell ovarian carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0													133	109	117			NA	NA	19		NA											NA				52709296		2203	4300	6503	SO:0001583	missense				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	5518	5518	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits	9302	protein-coding gene	gene with protein product	protein phosphatase 2A, regulatory subunit A, alpha isoform, protein phosphatase 2, 65kDa regulatory subunit A	605983	protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform		NA		Standard	NM_014225	NR_033500	NA	Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.250G>C	19.37:g.52709296G>C	ENSP00000324804:p.Glu84Gln	NA	Q13773|Q6ICQ3|Q96DH3	37	CCDS12849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.630|8.630	0.893441|0.893441	0.17613|0.17613	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000454220;ENST00000423369;ENST00000322088|ENST00000391791	T;T|.	0.35048|.	1.33;1.33|.	3.23|3.23	2.2|2.2	0.27929|0.27929	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.225700|.	0.30455|.	N|.	0.009598|.	T|T	0.62792|0.62792	0.2457|0.2457	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.014|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.64597|0.64597	-0.6370|-0.6370	10|6	0.48119|0.87932	T|D	0.1|0	-26.2108|-26.2108	8.5769|8.5769	0.33603|0.33603	0.1188:0.0:0.8812:0.0|0.1188:0.0:0.8812:0.0	.|.	84;84|.	A8K7B7;P30153|.	.;2AAA_HUMAN|.	Q|H	124;84;84|62	ENSP00000391905:E124Q;ENSP00000324804:E84Q|.	ENSP00000324804:E84Q|ENSP00000375668:Q62H	E|Q	+|+	1|3	0|2	PPP2R1A|PPP2R1A	57401108|57401108	1.000000|1.000000	0.71417|0.71417	0.672000|0.672000	0.29872|0.29872	0.515000|0.515000	0.34225|0.34225	8.178000|8.178000	0.89690|0.89690	0.948000|0.948000	0.37687|0.37687	-0.339000|-0.339000	0.08088|0.08088	GAG|CAG	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000267967.2		+	ENST00000322088.6	Missense_Mutation	SNP	19 : 52709296 - 52709296 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	314	13
PRKD3	23683	broad.mit.edu	37	2	37520399	37520399	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:37520399A>C	ENST00000379066.1	-	3	1066	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V			O94806	KPCD3_HUMAN	protein kinase D3	102					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGCCAAAGAATCCACACTCT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(80;621 1355 8613 11814 51767)							NA				0													87	82	84			NA	NA	2		NA											NA				37520399		2203	4300	6503	SO:0001583	missense			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825	23683	23683		Pleckstrin homology (PH) domain containing	9408	protein-coding gene	gene with protein product		607077	protein kinase C, nu	PRKCN	NA	10231560	Standard	NM_005813	NM_005813	NA	Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.304T>G	2.37:g.37520399A>C	ENSP00000368356:p.Phe102Val	NA	D6W587|Q53TR7|Q8NEL8	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260900	0.80246	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.65549	-0.16;-0.16	5.32	4.13	0.48395	.	0.056727	0.64402	N	0.000001	T	0.62986	0.2473	L	0.47716	1.5	0.58432	D	0.999999	P;B	0.36633	0.562;0.427	P;B	0.45794	0.493;0.235	T	0.62553	-0.6830	10	0.49607	T	0.09	-12.2843	12.4041	0.55430	0.8592:0.1408:0.0:0.0	.	102;102	O94806-2;O94806	.;KPCD3_HUMAN	V	102	ENSP00000368356:F102V;ENSP00000234179:F102V	ENSP00000234179:F102V	F	-	1	0	PRKD3	37373903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	0.914000	0.36822	0.533000	0.62120	TTC	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218570.3		-	ENST00000379066.1	Missense_Mutation	SNP	2 : 37520399 - 37520399 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	454	9
PSG6	5675	broad.mit.edu	37	19	43420449	43420449	+	Silent	SNP	G	G	A	rs73934315	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:43420449G>A	ENST00000402603.4	-	2	344	c.255C>T	c.(253-255)caC>caT	p.H85H	PSG6_ENST00000601833.1_Silent_p.H14H|PSG6_ENST00000187910.2_Silent_p.H85H|PSG6_ENST00000292125.2_Silent_p.H85H					pregnancy specific beta-1-glycoprotein 6	NA										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TAATTTGACCGTGTACTACAT	0.443		NA											N	11	0.01	0.02	0.01	2184	0.0017	1	,	,	NA	0.0014	NA	NA	NA	0.0051	0.9957	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								G	,	78,4324		2,74,2125	317	296	303		255,255	0.3	0	19	dbSNP_130	303	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous	PSG6	NM_001031850.2,NM_002782.3	,	2,75,6423	AA,AG,GG	NA	0.0116,1.7719,0.6077	,	85/425,85/436	43420449	79,12921	2201	4299	6500	SO:0001819	synonymous_variant				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848	5675	5675		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9523	protein-coding gene	gene with protein product		176395			NA	1690992	Standard	NM_002782	NM_002782	NA	Approved			Q00889	OTTHUMG00000151127	ENST00000402603.4:c.255C>T	19.37:g.43420449G>A		NA		37																																																																																				PSG6-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321437.2		-	ENST00000402603.4	Silent	SNP	19 : 43420449 - 43420449 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	1825	273
PUM1	9698	broad.mit.edu	37	1	31409636	31409636	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:31409636C>T	ENST00000373747.3	-	21	3391	c.3292G>A	c.(3292-3294)Gct>Act	p.A1098T	PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000257075.5_Missense_Mutation_p.A1095T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1095	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGAGCACAGCGCGCTCCGTA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	161	122	136		3283,3289	5.8	1	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PUM1	NM_014676.2,NM_001020658.1	58,58	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	1095/1187,1097/1189	31409636	1,13005	2203	4300	6503	SO:0001583	missense			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644	9698	9698			14957	protein-coding gene	gene with protein product		607204	pumilio (Drosophila) homolog 1, pumilio homolog 1 (Drosophila)		NA		Standard		NM_001020658	NA	Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000373747.3:c.3292G>A	1.37:g.31409636C>T	ENSP00000362852:p.Ala1098Thr	NA	A8K6W4|D3DPN3|Q5VXY7|Q9HAN1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261608|4.261608	0.80358|0.80358	0.0|0.0	1.16E-4|1.16E-4	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|T;T	0.13538|0.17213	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58|2.29;2.29	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33847|0.33847	0.0877|0.0877	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	P;B;B;P;P;B;P;B|.	0.39250|.	0.643;0.326;0.185;0.665;0.643;0.185;0.643;0.257|.	B;B;B;B;B;B;B;B|.	0.26614|.	0.065;0.032;0.015;0.071;0.065;0.007;0.065;0.065|.	T|T	0.00847|0.00847	-1.1542|-1.1542	10|7	0.39692|0.87932	T|D	0.17|0	-7.352|-7.352	20.0137|20.0137	0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;953;1133;1071;1095;1097;1098;1097|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	T|H	853;1095;1098;835;1097;1071;1133;953;1036;206|1033;808	ENSP00000400141:A853T;ENSP00000257075:A1095T;ENSP00000362852:A1098T;ENSP00000391723:A1097T;ENSP00000401777:A1071T;ENSP00000362846:A1133T;ENSP00000399440:A953T;ENSP00000362847:A1036T;ENSP00000431213:A206T|ENSP00000435825:R1033H;ENSP00000433850:R808H	ENSP00000257075:A1095T|ENSP00000433850:R808H	A|R	-|-	1|2	0|0	PUM1|PUM1	31182223|31182223	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.705000|0.705000	0.40729|0.40729	7.818000|7.818000	0.86416|0.86416	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCT|CGC	PUM1-004	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000010674.1		-	ENST00000373747.3	Missense_Mutation	SNP	1 : 31409636 - 31409636 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	243	14
RELN	5649	broad.mit.edu	37	7	103234836	103234836	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:103234836C>T	ENST00000428762.1	-	26	3802	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	RELN_ENST00000343529.5_Missense_Mutation_p.D1215N|RELN_ENST00000424685.2_Missense_Mutation_p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1215					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGATGTCATCGACTGCCCAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(146;835 1944 15585 22231 52158)							NA				0													261	250	254			NA	NA	7		NA											NA				103234836		2203	4300	6503	SO:0001583	missense				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056	5649	5649			9957	protein-coding gene	gene with protein product		600514			NA	9049633	Standard	NM_005045	NM_005045	NA	Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3643G>A	7.37:g.103234836C>T	ENSP00000392423:p.Asp1215Asn	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144229	0.94603	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.38560	1.13;1.13;1.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.952;0.981	T	0.70392	-0.4884	10	0.87932	D	0	.	19.9347	0.97133	0.0:1.0:0.0:0.0	.	1215;1215	P78509-2;P78509	.;RELN_HUMAN	N	1215	ENSP00000392423:D1215N;ENSP00000345694:D1215N;ENSP00000388446:D1215N	ENSP00000345694:D1215N	D	-	1	0	RELN	103022072	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	7.267000	0.78462	2.707000	0.92482	0.591000	0.81541	GAT	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103234836 - 103234836 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	1557	203
RNF111	54778	broad.mit.edu	37	15	59359283	59359283	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:59359283G>C	ENST00000348370.4	+	6	2119		c.e6+1		RNF111_ENST00000559209.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000557998.1_Splice_Site	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	NA					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCATGAACAGGTATGTGGAAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(72;983 1365 10746 34387 47081)							NA				0													95	87	90			NA	NA	15		NA											NA				59359283		2192	4291	6483	SO:0001630	splice_region_variant			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450	54778	54778		RING-type (C3HC4) zinc fingers	17384	protein-coding gene	gene with protein product		605840			NA	11298452	Standard	NM_017610	NM_017610	NA	Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000348370.4:c.1686+1G>C	15.37:g.59359283G>C		NA	C9JUS4|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	37	CCDS10169.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008992	0.75046	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF111	57146575	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.279000	0.89901	2.398000	0.81561	0.462000	0.41574	.	RNF111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256017.2	Intron	+	ENST00000348370.4	Splice_Site	SNP	15 : 59359283 - 59359283 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	306	47
RNF213	57674	broad.mit.edu	37	17	78324169	78324169	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:78324169G>A	ENST00000508628.2	+	32	10449	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H	RNF213_ENST00000582970.1_Missense_Mutation_p.R3386H|RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGGAATCCGTAGCGCCCAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	98	98			NA	NA	17		NA											NA				78324169		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.10304G>A	17.37:g.78324169G>A	ENSP00000425956:p.Arg3435His	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	g	5.030	0.191195	0.09547	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.17528	2.27	5.0	-1.62	0.08372	.	0.947517	0.08876	N	0.880757	T	0.06325	0.0163	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	10	0.22109	T	0.4	.	7.9091	0.29780	0.4707:0.0:0.4235:0.1057	.	1459	Q63HN8	RN213_HUMAN	H	3386;3435;1459	ENSP00000338218:R1459H	ENSP00000338218:R1459H	R	+	2	0	RNF213	75938764	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	0.460000	0.21924	-0.543000	0.06240	-0.285000	0.09966	CGT	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78324169 - 78324169 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	415	25
RP11-407N17.3	0	broad.mit.edu	37	14	39818172	39818172	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:39818172C>G	ENST00000553728.1	+	27	4057	c.3844C>G	c.(3844-3846)Cca>Gca	p.P1282A	CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P747A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A						NA											NA						ACCACCTGCTCCATTTGCAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	57	55			NA	NA	14		NA											NA				39818172		2195	4291	6486	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000553728.1:c.3844C>G	14.37:g.39818172C>G	ENSP00000452252:p.Pro1282Ala	NA		37		.	.	.	.	.	.	.	.	.	.	C	10.70	1.424878	0.25639	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.2	2.32	0.28847	.	0.244291	0.21448	N	0.074364	T	0.81138	0.4760	M	0.81802	2.56	0.19300	N	0.999972	D;D;D;D;D	0.89917	0.992;1.0;0.992;1.0;0.992	P;D;P;D;P	0.85130	0.822;0.997;0.725;0.997;0.725	T	0.68941	-0.5276	9	.	.	.	.	6.7502	0.23483	0.0:0.6936:0.1465:0.1599	.	752;704;747;675;735	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	A	1282;735;667;615;718;747;752;747;672;704;718	ENSP00000452252:P1282A;ENSP00000343897:P735A;ENSP00000450869:P667A;ENSP00000379468:P718A;ENSP00000339286:P747A;ENSP00000379462:P752A;ENSP00000280083:P747A;ENSP00000452562:P672A;ENSP00000343912:P704A;ENSP00000450449:P718A	.	P	+	1	0	CTAGE5;RP11-407N17.3	38887923	0.002000	0.14202	0.126000	0.21872	0.090000	0.18270	0.310000	0.19356	0.676000	0.31285	-0.176000	0.13171	CCA	RP11-407N17.3-001	NOVEL	not_organism_supported|basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000410208.1		+	ENST00000553728.1	Missense_Mutation	SNP	14 : 39818172 - 39818172 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	520	71
RREB1	6239	broad.mit.edu	37	6	7231195	7231195	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:7231195G>A	ENST00000379938.2	+	10	3400	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	RREB1_ENST00000349384.6_Missense_Mutation_p.E955K|RREB1_ENST00000379933.3_Missense_Mutation_p.E955K|RREB1_ENST00000334984.6_Missense_Mutation_p.E955K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	955					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)				CACTCCCAGCGAAGCCAAGAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	30			NA	NA	6		NA											NA				7231195		2203	4300	6503	SO:0001583	missense			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.2863G>A	6.37:g.7231195G>A	ENSP00000369270:p.Glu955Lys	NA	A2RRF5|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	37	CCDS34335.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404290	0.25378	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.87;2.88;2.76	4.75	3.88	0.44766	.	0.198485	0.34025	N	0.004340	T	0.03959	0.0111	L	0.40543	1.245	0.30128	N	0.805065	P;P;D	0.56035	0.954;0.956;0.974	B;B;P	0.47251	0.374;0.27;0.542	T	0.11792	-1.0573	10	0.07325	T	0.83	-13.4013	12.3157	0.54955	0.0:0.0:0.6923:0.3077	.	955;955;955	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	K	955	ENSP00000369265:E955K;ENSP00000369270:E955K;ENSP00000305560:E955K;ENSP00000335574:E955K	ENSP00000335574:E955K	E	+	1	0	RREB1	7176194	0.988000	0.35896	0.020000	0.16555	0.182000	0.23217	2.986000	0.49370	1.194000	0.43101	0.655000	0.94253	GAA	RREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039774.3		+	ENST00000379938.2	Missense_Mutation	SNP	6 : 7231195 - 7231195 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	86	17
SCN5A	6331	broad.mit.edu	37	3	38671831	38671831	+	Silent	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:38671831C>G	ENST00000455624.2	-	2	387	c.363G>C	c.(361-363)cgG>cgC	p.R121R	SCN5A_ENST00000333535.4_Silent_p.R121R|SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000413689.1_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	121					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGCCGCTCTCCGGATGGGGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	3		NA											NA				38671831		2072	4242	6314	SO:0001819	synonymous_variant			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.363G>C	3.37:g.38671831C>G		NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1																																																																																			SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Silent	SNP	3 : 38671831 - 38671831 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	399	50
SCRN2	90507	broad.mit.edu	37	17	45916852	45916852	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45916852G>A	ENST00000407215.3	-	4	595	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SCRN2_ENST00000584123.1_Silent_p.L180L|SCRN2_ENST00000290216.9_Silent_p.L172L			Q96FV2	SCRN2_HUMAN	secernin 2	172					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGTCTCCAGCACCCACGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	63	65			NA	NA	17		NA											NA				45916852		2203	4300	6503	SO:0001819	synonymous_variant			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05					90507	90507			30381	protein-coding gene	gene with protein product		614966			NA	12221138	Standard	NM_138355	NM_001145023	NA	Approved		uc002imd.3	Q96FV2		ENST00000407215.3:c.514C>T	17.37:g.45916852G>A		NA	A8K3N1|Q96AC3	37	CCDS45723.1																																																																																			SCRN2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441382.1		-	ENST00000407215.3	Silent	SNP	17 : 45916852 - 45916852 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	377	56
SHROOM4	57477	broad.mit.edu	37	X	50350791	50350791	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:50350791T>C	ENST00000460112.3	-	5	3457	c.3003A>G	c.(3001-3003)gcA>gcG	p.A1001A	SHROOM4_ENST00000376020.2_Silent_p.A1117A|SHROOM4_ENST00000289292.7_Silent_p.A1117A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1117					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					gctgctgGGCTGCACGAAAGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	24	25			NA	NA	X		NA											NA				50350791		2202	4299	6501	SO:0001819	synonymous_variant			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352	57477	57477			29215	protein-coding gene	gene with protein product		300579			NA	10574462, 16615870	Standard	NM_020717	NR_027121	NA	Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000460112.3:c.3003A>G	X.37:g.50350791T>C		NA	A7E2X9|D6RFW0|Q96LA0	37																																																																																				SHROOM4-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000056565.4		-	ENST00000460112.3	Silent	SNP	X : 50350791 - 50350791 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	102	16
SLC11A1	6556	broad.mit.edu	37	2	219251895	219251895	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251895G>C	ENST00000233202.6	+	6	853	c.513G>C	c.(511-513)tgG>tgC	p.W171C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	171					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	96	100			NA	NA	2		NA											NA				219251895		2203	4300	6503	SO:0001583	missense			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280	6556	6556		Solute carriers	10907	protein-coding gene	gene with protein product	natural resistance-associated macrophage protein 1	600266		LSH, NRAMP, NRAMP1	NA	7964458, 7980580	Standard	NM_000578	NM_000578	NA	Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.513G>C	2.37:g.219251895G>C	ENSP00000233202:p.Trp171Cys	NA		37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866221	0.71949	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70516	-0.49;-0.49	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.971;0.995;0.995	D	0.91207	0.4996	10	0.87932	D	0	-12.7329	18.8984	0.92433	0.0:0.0:1.0:0.0	.	171;53;171	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	C	171;53	ENSP00000233202:W171C;ENSP00000443435:W53C	ENSP00000233202:W171C	W	+	3	0	SLC11A1	218960139	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.007000	0.70731	2.694000	0.91930	0.655000	0.94253	TGG	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195076.2		+	ENST00000233202.6	Missense_Mutation	SNP	2 : 219251895 - 219251895 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	311	38
SLC11A1	6556	broad.mit.edu	37	2	219251897	219251897	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251897G>T	ENST00000233202.6	+	6	855	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	172					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCTGGGGTGGCGTCCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	97	102			NA	NA	2		NA											NA				219251897		2203	4300	6503	SO:0001583	missense			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280	6556	6556		Solute carriers	10907	protein-coding gene	gene with protein product	natural resistance-associated macrophage protein 1	600266		LSH, NRAMP, NRAMP1	NA	7964458, 7980580	Standard	NM_000578	NM_000578	NA	Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.515G>T	2.37:g.219251897G>T	ENSP00000233202:p.Gly172Val	NA		37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765423	0.49574	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.66280	-0.2;-0.2	5.18	4.29	0.51040	.	0.066829	0.64402	D	0.000008	T	0.62307	0.2417	L	0.35341	1.055	0.80722	D	1	B;B;B	0.33739	0.016;0.422;0.422	B;P;B	0.46452	0.017;0.517;0.363	T	0.62774	-0.6783	10	0.41790	T	0.15	-6.105	14.3044	0.66375	0.0723:0.0:0.9277:0.0	.	172;54;172	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	V	172;54	ENSP00000233202:G172V;ENSP00000443435:G54V	ENSP00000233202:G172V	G	+	2	0	SLC11A1	218960141	0.998000	0.40836	0.883000	0.34634	0.757000	0.42996	2.602000	0.46257	1.380000	0.46344	0.655000	0.94253	GGT	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195076.2		+	ENST00000233202.6	Missense_Mutation	SNP	2 : 219251897 - 219251897 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	316	37
SLC25A53	401612	broad.mit.edu	37	X	103349565	103349565	+	Missense_Mutation	SNP	C	C	T	rs112530678	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:103349565C>T	ENST00000357421.4	-	2	556	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	126					transport	integral to membrane|mitochondrial inner membrane					NA						GCCTCCACCACGCCAGACATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	0,3835		0,0,0,1632,571	72	76	75		376	2.4	1	X	dbSNP_132	75	1,6727		0,0,1,2428,1871	no	missense	MCART6	NM_001012755.3	21	0,0,1,4060,2442	TT,TC,T,CC,C	NA	0.0149,0.0,0.0095	benign	126/308	103349565	1,10562	2203	4300	6503	SO:0001583	missense				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743	401612	401612		Solute carriers	31894	protein-coding gene	gene with protein product			mitochondrial carrier triple repeat 6	MCART6	NA		Standard	NM_001012755	NM_001012755	NA	Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.376G>A	X.37:g.103349565C>T	ENSP00000361681:p.Val126Met	NA	B2RTT9	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	t	11.65	1.702148	0.30232	0.0	1.49E-4	ENSG00000176274	ENST00000357421	T	0.79247	-1.25	4.18	2.39	0.29439	Mitochondrial carrier domain (2);	0.332828	0.27773	N	0.017902	T	0.66790	0.2825	L	0.48935	1.535	0.24669	N	0.993427	P	0.42993	0.797	B	0.40101	0.319	T	0.57757	-0.7756	10	0.36615	T	0.2	-49.9526	6.5896	0.22639	0.0:0.7041:0.185:0.1109	.	126	Q5H9E4	MCAR6_HUMAN	M	126	ENSP00000361681:V126M	ENSP00000361681:V126M	V	-	1	0	MCART6	103236221	0.001000	0.12720	1.000000	0.80357	0.987000	0.75469	0.066000	0.14489	0.906000	0.36621	-0.178000	0.13098	GTG	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057761.1		-	ENST00000357421.4	Missense_Mutation	SNP	X : 103349565 - 103349565 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	306	23
SMEK2	57223	broad.mit.edu	37	2	55795477	55795477	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:55795477C>T	ENST00000272313.5	-	11	1860	c.1533G>A	c.(1531-1533)cgG>cgA	p.R511R	SMEK2_ENST00000407823.3_Silent_p.R564R|SMEK2_ENST00000345102.5_Silent_p.R596R	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	574						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAATTATCCGCCTCATAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	58			NA	NA	2		NA											NA				55795477		2203	4296	6499	SO:0001819	synonymous_variant			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041		57223	57223			29267	protein-coding gene	gene with protein product		610352			NA	16085932, 18614045	Standard	NM_020463	NM_001122964	NA	Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000272313.5:c.1533G>A	2.37:g.55795477C>T		NA	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	37	CCDS1855.1																																																																																			SMEK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251482.1		-	ENST00000272313.5	Silent	SNP	2 : 55795477 - 55795477 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	397	65
SMTNL1	219537	broad.mit.edu	37	11	57311123	57311123	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:57311123G>A	ENST00000527972.1	+	2	761	c.759G>A	c.(757-759)caG>caA	p.Q253Q	SMTNL1_ENST00000457912.1_Silent_p.Q271Q|SMTNL1_ENST00000399154.2_Silent_p.Q216Q	NM_001105565.2	NP_001099035.2	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	253										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCGAAGAGCAGGAGCAGGACG	0.607		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	11		NA											NA				57311123		2042	4200	6242	SO:0001819	synonymous_variant			BX116227		11q12.1	2006-02-02				ENSG00000214872	219537	219537			32394	protein-coding gene	gene with protein product	calponin homology-associated smooth muscle protein	613664			NA	15327999	Standard	XM_166203	NM_001105565	NA	Approved	CHASM	uc021qjh.1	A8MU46		ENST00000527972.1:c.759G>A	11.37:g.57311123G>A		NA		37																																																																																				SMTNL1-001	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000392654.2		+	ENST00000527972.1	Silent	SNP	11 : 57311123 - 57311123 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	88	13
SOCS5	9655	broad.mit.edu	37	2	46987120	46987120	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:46987120T>C	ENST00000306503.5	+	2	1623	c.1451T>C	c.(1450-1452)cTg>cCg	p.L484P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	484	SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTTTAGCCTGCAGTATATC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	87			NA	NA	2		NA											NA				46987120		2203	4300	6503	SO:0001583	missense			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150	NA	9655		Suppressors of cytokine signaling, SH2 domain containing	16852	protein-coding gene	gene with protein product		607094			NA	9734811, 11230166	Standard		NM_014011	NA	Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1451T>C	2.37:g.46987120T>C	ENSP00000305133:p.Leu484Pro	NA	Q8IYZ4	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543224	0.65198	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.94497	-3.44;-3.44	5.43	5.43	0.79202	SOCS protein, C-terminal (4);SH2 motif (1);	0.000000	0.64402	D	0.000001	D	0.98229	0.9414	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99597	1.0977	10	0.87932	D	0	-13.9042	15.3001	0.73940	0.0:0.0:0.0:1.0	.	484	O75159	SOCS5_HUMAN	P	484	ENSP00000305133:L484P;ENSP00000378330:L484P	ENSP00000305133:L484P	L	+	2	0	SOCS5	46840624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.279000	0.76181	0.533000	0.62120	CTG	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250791.2		+	ENST00000306503.5	Missense_Mutation	SNP	2 : 46987120 - 46987120 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	515	102
SYNPO2L	79933	broad.mit.edu	37	10	75407582	75407582	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75407582G>C	ENST00000394810.2	-	4	1977	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCTGCTCGCGAGCGCTGGGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	27	26			NA	NA	10		NA											NA				75407582		2001	4159	6160	SO:0001583	missense			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317	79933	79933			23532	protein-coding gene	gene with protein product					NA		Standard	NM_024875	XM_005270158	NA	Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1828C>G	10.37:g.75407582G>C	ENSP00000378289:p.Arg610Gly	NA	A5PKV9|Q68A20	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805525	0.50315	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27402	1.67;1.98	5.02	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.50333	1.59	0.43608	D	0.995978	D;D	0.89917	1.0;1.0	D;D	0.79784	0.98;0.993	T	0.31696	-0.9934	10	0.33141	T	0.24	-16.451	12.8585	0.57899	0.0:0.0:0.4834:0.5165	.	610;386	Q9H987;Q9H987-2	SYP2L_HUMAN;.	G	386;610	ENSP00000361964:R386G;ENSP00000378289:R610G	ENSP00000361964:R386G	R	-	1	0	SYNPO2L	75077588	0.221000	0.23642	0.834000	0.33040	0.795000	0.44927	0.966000	0.29331	1.313000	0.45069	0.549000	0.68633	CGC	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316562.2		-	ENST00000394810.2	Missense_Mutation	SNP	10 : 75407582 - 75407582 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	324	53
TCTE1	202500	broad.mit.edu	37	6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:44248064G>A	ENST00000371505.4	-	5	1482	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	454										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	88			NA	NA	6		NA											NA				44248064		2203	4300	6503	SO:0001583	missense			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221	202500	202500			11693	protein-coding gene	gene with protein product		186975			NA	2568335, 8646886	Standard	NM_182539	NM_182539	NA	Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1360C>T	6.37:g.44248064G>A	ENSP00000360560:p.Arg454Cys	NA	B4DX59|Q8IYS6	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205354	0.58234	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.58506	0.58;0.33;0.33	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	L	0.59436	1.845	0.38815	D	0.955503	D	0.89917	1.0	D	0.91635	0.999	T	0.68727	-0.5332	10	0.62326	D	0.03	-36.3572	13.806	0.63233	0.0:0.0:0.8458:0.1542	.	454	Q5JU00	TCTE1_HUMAN	C	454;151;151	ENSP00000360560:R454C;ENSP00000360558:R151C;ENSP00000360559:R151C	ENSP00000360558:R151C	R	-	1	0	TCTE1	44356042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.356000	0.59430	2.408000	0.81797	0.563000	0.77884	CGC	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040736.1		-	ENST00000371505.4	Missense_Mutation	SNP	6 : 44248064 - 44248064 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	360	54
TECTA	7007	broad.mit.edu	37	11	121028674	121028674	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:121028674G>A	ENST00000392793.1	+	14	4701	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACGGGGTGCGCGGCTGCTTC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	37	38			NA	NA	11		NA											NA				121028674		2203	4298	6501	SO:0001583	missense			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4430G>A	11.37:g.121028674G>A	ENSP00000376543:p.Arg1477His	NA		37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397066	0.83120	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04970	3.52;3.52	5.69	5.69	0.88448	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.31926	0.97	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.17137	-1.0379	10	0.14656	T	0.56	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	1477	O75443	TECTA_HUMAN	H	1477	ENSP00000376543:R1477H;ENSP00000264037:R1477H	ENSP00000264037:R1477H	R	+	2	0	TECTA	120533884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.508000	0.98000	2.687000	0.91594	0.462000	0.41574	CGC	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Missense_Mutation	SNP	11 : 121028674 - 121028674 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	328	45
THAP4	51078	broad.mit.edu	37	2	242572368	242572368	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:242572368C>T	ENST00000407315.1	-	2	1635	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	402							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGATAGGGGACGCTCACTCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	42	43			NA	NA	2		NA											NA				242572368		2203	4296	6499	SO:0001583	missense			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946	51078	51078		THAP (C2CH-type zinc finger) domain containing	23187	protein-coding gene	gene with protein product		612533			NA	12575992, 10810093	Standard	NM_015963	NM_015963	NA	Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1204G>A	2.37:g.242572368C>T	ENSP00000385006:p.Val402Ile	NA	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339085	0.05243	.	.	ENSG00000176946	ENST00000407315;ENST00000512346	D	0.95554	-3.74	5.22	-10.4	0.00318	.	.	.	.	.	T	0.81064	0.4745	N	0.03608	-0.345	0.24018	N	0.996156	B	0.02656	0.0	B	0.01281	0.0	T	0.71431	-0.4595	9	0.21540	T	0.41	-1.1688	1.6018	0.02675	0.138:0.3253:0.2302:0.3065	.	402	Q8WY91	THAP4_HUMAN	I	402;77	ENSP00000385006:V402I	ENSP00000385006:V402I	V	-	1	0	THAP4	242221041	0.234000	0.23783	0.000000	0.03702	0.462000	0.32619	-0.598000	0.05706	-3.708000	0.00117	-2.089000	0.00373	GTC	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257267.3		-	ENST00000407315.1	Missense_Mutation	SNP	2 : 242572368 - 242572368 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	111	8
THBS1	7057	broad.mit.edu	37	15	39876541	39876541	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:39876541C>T	ENST00000260356.5	+	6	1109	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	315					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGAGGCGGCCTCCCCTATGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	98	98			NA	NA	15		NA											NA				39876541		2200	4297	6497	SO:0001583	missense				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801	7057	7057			11785	protein-coding gene	gene with protein product	thrombospondin-1p180	188060			NA	2341158, 2335352	Standard	NM_003246	NM_003246	NA	Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.944C>T	15.37:g.39876541C>T	ENSP00000260356:p.Pro315Leu	NA	A8K6H4|B9EGH6|Q15667	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268480	0.59540	.	.	ENSG00000137801	ENST00000260356	T	0.77620	-1.11	5.88	5.88	0.94601	.	0.224139	0.22966	N	0.053490	T	0.78091	0.4229	M	0.61703	1.905	0.47214	D	0.999351	B	0.15141	0.012	B	0.14023	0.01	T	0.72883	-0.4157	10	0.59425	D	0.04	-2.5851	19.2015	0.93713	0.0:1.0:0.0:0.0	.	315	P07996	TSP1_HUMAN	L	315	ENSP00000260356:P315L	ENSP00000260356:P315L	P	+	2	0	THBS1	37663833	0.032000	0.19561	0.123000	0.21794	0.901000	0.52897	2.941000	0.49011	2.786000	0.95864	0.655000	0.94253	CCT	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257831.2		+	ENST00000260356.5	Missense_Mutation	SNP	15 : 39876541 - 39876541 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	318	53
THRAP3	9967	broad.mit.edu	37	1	36752630	36752630	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752630C>T	ENST00000354618.5	+	4	1023	c.799C>T	c.(799-801)Cct>Tct	p.P267S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCACCCCGTCCTAGCCCCGT	0.617		NA	T	USP6	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													65	66	66			NA	NA	1		NA											NA				36752630		2203	4300	6503	SO:0001583	missense			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118	9967	9967			22964	protein-coding gene	gene with protein product		603809			NA		Standard	NM_005119	NM_005119	NA	Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.799C>T	1.37:g.36752630C>T	ENSP00000346634:p.Pro267Ser	NA	D3DPS5|Q5VTK6	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846324	0.71603	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.34454	0.0898	L	0.56769	1.78	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.00883	-1.1528	10	0.20046	T	0.44	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	S	267	ENSP00000346634:P267S;ENSP00000433825:P267S	ENSP00000346634:P267S	P	+	1	0	THRAP3	36525217	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021688.2		+	ENST00000354618.5	Missense_Mutation	SNP	1 : 36752630 - 36752630 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	551	102
THRAP3	9967	broad.mit.edu	37	1	36752631	36752631	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752631C>T	ENST00000354618.5	+	4	1024	c.800C>T	c.(799-801)cCt>cTt	p.P267L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACCCCGTCCTAGCCCCGTG	0.617		NA	T	USP6	aneurysmal bone cysts									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													66	67	66			NA	NA	1		NA											NA				36752631		2203	4300	6503	SO:0001583	missense			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118	9967	9967			22964	protein-coding gene	gene with protein product		603809			NA		Standard	NM_005119	NM_005119	NA	Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.800C>T	1.37:g.36752631C>T	ENSP00000346634:p.Pro267Leu	NA	D3DPS5|Q5VTK6	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962964	0.74016	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.33876	0.0878	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00589	-1.1656	10	0.59425	D	0.04	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	L	267	ENSP00000346634:P267L;ENSP00000433825:P267L	ENSP00000346634:P267L	P	+	2	0	THRAP3	36525218	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021688.2		+	ENST00000354618.5	Missense_Mutation	SNP	1 : 36752631 - 36752631 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	565	104
TICRR	90381	broad.mit.edu	37	15	90150053	90150053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:90150053C>T	ENST00000268138.7	+	14	2824	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906*					TOPBP1-interacting checkpoint and replication regulator	NA											NA						AGATACAGTGCAAGGTATACT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	95			NA	NA	15		NA											NA				90150053		1845	4087	5932	SO:0001587	stop_gained			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534	90381	90381			28704	protein-coding gene	gene with protein product	TOPBP1-interacting replication-stimulating protein, SLD3 homolog (S. cerevisiae)	613298	chromosome 15 open reading frame 42	C15orf42	NA	20116089, 20080954	Standard	NM_152259	NM_152259	NA	Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2719C>T	15.37:g.90150053C>T	ENSP00000268138:p.Gln907*	NA		37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	40	8.394003	0.98791	.	.	ENSG00000140534	ENST00000268138	.	.	.	6.17	6.17	0.99709	.	0.317816	0.32640	N	0.005829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.5716	18.0354	0.89301	0.0:1.0:0.0:0.0	.	.	.	.	X	907	.	ENSP00000268138:Q907X	Q	+	1	0	C15orf42	87951057	0.995000	0.38212	0.974000	0.42286	0.902000	0.53008	4.184000	0.58323	2.941000	0.99782	0.655000	0.94253	CAA	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000312856.1		+	ENST00000268138.7	Nonsense_Mutation	SNP	15 : 90150053 - 90150053 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	422	30
TLN1	7094	broad.mit.edu	37	9	35700280	35700280	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:35700280C>T	ENST00000314888.9	-	49	6921	c.6568G>A	c.(6568-6570)Gtt>Att	p.V2190I	TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2190					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAACGGCCTTGGCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	70	70			NA	NA	9		NA											NA				35700280		2203	4300	6503	SO:0001583	missense			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076	7094	7094			11845	protein-coding gene	gene with protein product		186745		TLN	NA	7635475, 10610730	Standard	NM_006289	NM_006289	NA	Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6568G>A	9.37:g.35700280C>T	ENSP00000316029:p.Val2190Ile	NA	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358745	0.95854	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.74421	-0.84;-0.83	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.85859	2.78	0.80722	D	1	D	0.54207	0.965	B	0.39771	0.309	D	0.84352	0.0533	10	0.87932	D	0	-20.4308	18.3575	0.90362	0.0:1.0:0.0:0.0	.	2190	Q9Y490	TLN1_HUMAN	I	2190;2078	ENSP00000316029:V2190I;ENSP00000442981:V2078I	ENSP00000316029:V2190I	V	-	1	0	TLN1	35690280	1.000000	0.71417	0.788000	0.31933	0.938000	0.57974	7.747000	0.85070	2.436000	0.82500	0.655000	0.94253	GTT	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052353.2		-	ENST00000314888.9	Missense_Mutation	SNP	9 : 35700280 - 35700280 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	352	16
TMEM214	54867	broad.mit.edu	37	2	27261588	27261588	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:27261588G>C	ENST00000238788.9	+	12	1374	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	438						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTTGCAAGAAACCATTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	61			NA	NA	2		NA											NA				27261588		2043	4181	6224	SO:0001583	missense				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777	54867	54867			25983	protein-coding gene	gene with protein product					NA	23661706	Standard	NM_017727	NM_001083590	NA	Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1312G>C	2.37:g.27261588G>C	ENSP00000238788:p.Glu438Gln	NA	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	37	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.239182|4.239182	0.79800|0.79800	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135|ENST00000425720	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.088644|.	0.85682|.	D|.	0.000000|.	T|T	0.74718|0.74718	0.3753|0.3753	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.67145|.	0.996;0.985|.	P;D|.	0.63113|.	0.902;0.911|.	T|T	0.73613|0.73613	-0.3927|-0.3927	10|5	0.40728|.	T|.	0.16|.	-12.2017|-12.2017	16.735|16.735	0.85444|0.85444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393;438|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	Q|N	438;393;178;98|222	ENSP00000238788:E438Q;ENSP00000384417:E393Q;ENSP00000392442:E98Q|.	ENSP00000238788:E438Q|.	E|K	+|+	1|3	0|2	TMEM214|TMEM214	27115092|27115092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.607000|7.607000	0.82883|0.82883	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	GAA|AAG	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324748.1		+	ENST00000238788.9	Missense_Mutation	SNP	2 : 27261588 - 27261588 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	99	9
TNFAIP3	7128	broad.mit.edu	37	6	138202266	138202266	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:138202266G>A	ENST00000237289.4	+	9	2249	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	728	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTGGCCTGCCGCAGCGAGGAG	0.657		NA	D, N, F		marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	tumor necrosis factor, alpha-induced protein 3		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											45	52	50			NA	NA	6		NA											NA				138202266		2203	4300	6503	SO:0001583	missense			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503	7128	7128		OTU domain containing	11896	protein-coding gene	gene with protein product		191163			NA	2118515	Standard		NM_006290	NA	Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2183G>A	6.37:g.138202266G>A	ENSP00000237289:p.Arg728His	NA	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621768	0.96660	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	T	0.46819	0.86	5.67	5.67	0.87782	Zinc finger, A20-type (3);	0.253340	0.44902	D	0.000405	T	0.50786	0.1636	L	0.48642	1.525	0.53005	D	0.999965	D	0.58620	0.983	P	0.57283	0.817	T	0.50056	-0.8872	10	0.56958	D	0.05	-19.7323	17.9431	0.89031	0.0:0.0:1.0:0.0	.	728	P21580	TNAP3_HUMAN	H	728	ENSP00000237289:R728H	ENSP00000237289:R728H	R	+	2	0	TNFAIP3	138243959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.069000	0.71209	2.673000	0.90976	0.563000	0.77884	CGC	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042414.1		+	ENST00000237289.4	Missense_Mutation	SNP	6 : 138202266 - 138202266 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	372	6
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.733G>A	17.37:g.7577548C>T	ENSP00000391127:p.Gly245Ser	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	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577548 - 7577548 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	268	35
TPP2	7174	broad.mit.edu	37	13	103301346	103301346	+	Silent	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr13:103301346T>A	ENST00000376052.3	+	22	2734	c.2718T>A	c.(2716-2718)ctT>ctA	p.L906L	TPP2_ENST00000376065.4_Silent_p.L906L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	906					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAAAGACCTTCCATTTATTG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	133	132			NA	NA	13		NA											NA				103301346		2203	4300	6503	SO:0001819	synonymous_variant			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	7174	7174	3.4.14.10		12016	protein-coding gene	gene with protein product		190470			NA	1670990	Standard		NM_003291	NA	Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376052.3:c.2718T>A	13.37:g.103301346T>A		NA	Q5VZU8	37																																																																																				TPP2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045684.2		+	ENST00000376052.3	Silent	SNP	13 : 103301346 - 103301346 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	602	69
TRAIP	10293	broad.mit.edu	37	3	49867474	49867474	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	355	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTGCATATCTTCTTGGGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	127	132			NA	NA	3		NA											NA				49867474		2203	4300	6503	SO:0001819	synonymous_variant			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763	10293	10293		RING-type (C3HC4) zinc fingers	30764	protein-coding gene	gene with protein product	ring finger protein 206	605958			NA	9104814	Standard	NM_005879	NM_005879	NA	Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1065G>A	3.37:g.49867474C>T		NA	O00467	37	CCDS2806.1																																																																																			TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350518.1		-	ENST00000331456.2	Silent	SNP	3 : 49867474 - 49867474 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	494	8
TTN	7273	broad.mit.edu	37	2	179456474	179456474	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179456474C>G	ENST00000589042.1	-	303	60296	c.60072G>C	c.(60070-60072)tgG>tgC	p.W20024C	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W18383C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18383	Fibronectin type-III 45.						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)			TAAATTTAATCCAGTCCTGGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	116	118			NA	NA	2		NA											NA				179456474		1867	4103	5970	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.60072G>C	2.37:g.179456474C>G	ENSP00000467141:p.Trp20024Cys	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824565	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85440	0.5697	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90151	0.4221	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10959;11084;11151;18383	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	17456;10959;11151;11084;10957	ENSP00000343764:W17456C;ENSP00000434586:W10959C;ENSP00000340554:W11151C;ENSP00000352154:W11084C	ENSP00000340554:W11151C	W	-	3	0	TTN	179164720	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	TGG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179456474 - 179456474 G PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	478	11
TTN	7273	broad.mit.edu	37	2	179638079	179638079	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179638079C>T	ENST00000589042.1	-	33	7836	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2538S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2272							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)			TCACGAAGACCTCTGATAATT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	41	40			NA	NA	2		NA											NA				179638079		2202	4297	6499	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.7612G>A	2.37:g.179638079C>T	ENSP00000467141:p.Gly2538Ser	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134330	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.82	5.82	0.92795	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75079	0.3801	L	0.42581	1.335	0.28955	N	0.890175	D;D;D;D;D	0.76494	0.978;0.978;0.978;0.989;0.999	P;P;P;P;D	0.69479	0.871;0.871;0.871;0.871;0.964	T	0.70737	-0.4790	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2492;2492;2492;2538;2538	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2538;2492;2492;2492;2492;2538	ENSP00000343764:G2538S;ENSP00000434586:G2492S;ENSP00000340554:G2492S;ENSP00000352154:G2492S;ENSP00000354117:G2538S	ENSP00000340554:G2492S	G	-	1	0	TTN	179346324	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.965000	0.63708	2.765000	0.95021	0.650000	0.86243	GGT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179638079 - 179638079 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	371	56
UBASH3B	84959	broad.mit.edu	37	11	122667631	122667631	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:122667631G>A	ENST00000284273.5	+	9	1622	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	416	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CGCTACATACGCACCAACCTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	135	146			NA	NA	11		NA											NA				122667631		2202	4299	6501	SO:0001583	missense			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127	84959	84959			29884	protein-coding gene	gene with protein product	SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate	609201			NA	11853319, 12370296	Standard	NM_032873	NM_032873	NA	Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1247G>A	11.37:g.122667631G>A	ENSP00000284273:p.Arg416His	NA	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881504	0.91740	.	.	ENSG00000154127	ENST00000284273	T	0.07567	3.18	6.05	5.14	0.70334	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10660	-1.0620	10	0.72032	D	0.01	-25.6525	15.3314	0.74215	0.0666:0.0:0.9334:0.0	.	416	Q8TF42	UBS3B_HUMAN	H	416	ENSP00000284273:R416H	ENSP00000284273:R416H	R	+	2	0	UBASH3B	122172841	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.368000	0.97152	1.577000	0.49804	0.650000	0.86243	CGC	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387499.1		+	ENST00000284273.5	Missense_Mutation	SNP	11 : 122667631 - 122667631 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	405	82
UNC80	285175	broad.mit.edu	37	2	210650909	210650909	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:210650909T>C	ENST00000272845.6	+	5	754	c.720T>C	c.(718-720)atT>atC	p.I240I	UNC80_ENST00000439458.1_Silent_p.I240I|UNC80_ENST00000478701.1_3'UTR	NM_182587.3	NP_872393.3	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	NA						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGAACATCATTACAGGTTTGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	2		NA											NA				210650909		2203	4300	6503	SO:0001819	synonymous_variant			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406	285175	285175			26582	protein-coding gene	gene with protein product		612636	chromosome 2 open reading frame 21	C2orf21	NA	19092807	Standard	NM_182587	NM_032504	NA	Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000272845.6:c.720T>C	2.37:g.210650909T>C		NA	B2RN50|B4DQY9|B4DZB3|C4IXS8|Q96JI4|Q96SS0	37	CCDS2387.2																																																																																			UNC80-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336930.2		+	ENST00000272845.6	Silent	SNP	2 : 210650909 - 210650909 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	299	17
UTP18	51096	broad.mit.edu	37	17	49353296	49353296	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49353296C>A	ENST00000225298.7	+	6	838	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCAGTTCCATCCCGGTGCACA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	93	93			NA	NA	17		NA											NA				49353296		1912	4124	6036	SO:0001583	missense			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260	51096	51096		WD repeat domain containing	24274	protein-coding gene	gene with protein product		612816	WD repeat domain 50	WDR50	NA	10810093, 8619474, 15590835	Standard	NM_016001	NM_016001	NA	Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.781C>A	17.37:g.49353296C>A	ENSP00000225298:p.Pro261Thr	NA	Q9H4N6	37	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656868	0.88154	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.25414	1.8	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61510	-0.7048	10	0.87932	D	0	-16.6136	18.8399	0.92180	0.0:1.0:0.0:0.0	.	261	Q9Y5J1	UTP18_HUMAN	T	261;237	ENSP00000225298:P261T	ENSP00000225298:P261T	P	+	1	0	UTP18	46708295	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	6.329000	0.72920	2.885000	0.99019	0.655000	0.94253	CCC	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368654.1		+	ENST00000225298.7	Missense_Mutation	SNP	17 : 49353296 - 49353296 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	415	7
VTI1B	10490	broad.mit.edu	37	14	68118129	68118129	+	Silent	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:68118129A>C	ENST00000554659.1	-	6	1013	c.672T>G	c.(670-672)gtT>gtG	p.V224V	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	224					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		ATTTGTAGTAAACCAGGCCTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	71			NA	NA	14		NA											NA				68118129		2203	4300	6503	SO:0001819	synonymous_variant			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568	10490	10490			17793	protein-coding gene	gene with protein product		603207	vesicle transport through interaction with t-SNAREs homolog 1B (yeast)		NA	9636656, 9446565	Standard		NM_006370	NA	Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.672T>G	14.37:g.68118129A>C		NA	O43547|Q96J28	37	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	A	6.515	0.463167	0.12402	.	.	ENSG00000100568	ENST00000554636	.	.	.	6.17	-2.23	0.06930	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	.	6.4943	0.22133	0.3206:0.2838:0.3956:0.0	.	.	.	.	C	102	.	.	F	-	2	0	VTI1B	67187882	0.962000	0.33011	0.993000	0.49108	0.998000	0.95712	0.084000	0.14891	-0.288000	0.09051	0.533000	0.62120	TTT	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412558.2		-	ENST00000554659.1	Silent	SNP	14 : 68118129 - 68118129 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	364	51
WDR3	10885	broad.mit.edu	37	1	118477263	118477263	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:118477263G>C	ENST00000349139.5	+	3	386	c.339G>C	c.(337-339)ttG>ttC	p.L113F	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	NA						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCACTACCTTGAAGTATGATC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	104	107			NA	NA	1		NA											NA				118477263		2203	4300	6503	SO:0001583	missense			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183	10885	10885		WD repeat domain containing	12755	protein-coding gene	gene with protein product		604737			NA	10395803	Standard	NM_006784	NM_006784	NA	Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.339G>C	1.37:g.118477263G>C	ENSP00000308179:p.Leu113Phe	NA		37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756898	0.69648	.	.	ENSG00000065183	ENST00000349139	T	0.64803	-0.12	5.76	1.42	0.22433	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.169045	0.50627	D	0.000118	T	0.66426	0.2788	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.66712	-0.5854	10	0.72032	D	0.01	-9.5395	3.4483	0.07488	0.1398:0.2421:0.4916:0.1265	.	113	Q9UNX4	WDR3_HUMAN	F	113	ENSP00000308179:L113F	ENSP00000308179:L113F	L	+	3	2	WDR3	118278786	1.000000	0.71417	0.937000	0.37676	0.873000	0.50193	0.594000	0.24014	0.406000	0.25560	-0.150000	0.13652	TTG	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033720.2		+	ENST00000349139.5	Missense_Mutation	SNP	1 : 118477263 - 118477263 C PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	486	30
WFIKKN2	124857	broad.mit.edu	37	17	48917574	48917580	+	Frame_Shift_Del	DEL	CAGGCTG	CAGGCTG	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGGCTG	CAGGCTG	-	-	CAGGCTG	CAGGCTG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:48917574_48917580delCAGGCTG	ENST00000311378.4	+	2	1453_1459	c.925_931delCAGGCTG	c.(925-933)caggctgcafs	p.QAA309fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	309						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.A311S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGGGGTCATCAGGCTGCAGCCACCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714	124857	124857		Immunoglobulin superfamily / I-set domain containing, WAP four-disulfide core domain containing	30916	protein-coding gene	gene with protein product	WAP four-disulfide core domain 20B	610895			NA	11928817, 12709070	Standard	NM_175575	NM_175575	NA	Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.925_931delCAGGCTG	17.37:g.48917574_48917580delCAGGCTG	ENSP00000311184:p.Gln309fs	NA	Q6UXZ9	37	CCDS11575.1																																																																																			WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368358.1		+	ENST00000311378.4	Frame_Shift_Del	DEL	17 : 48917574 - 48917580 - PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	273	25
ZC3H4	23211	broad.mit.edu	37	19	47585472	47585472	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	171	176			NA	NA	19		NA											NA				47585472		1977	4171	6148	SO:0001819	synonymous_variant			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749	23211	23211		Zinc fingers, CCCH-type domain containing	17808	protein-coding gene	gene with protein product			chromosome 19 open reading frame 7	C19orf7	NA		Standard		NM_015168	NA	Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1299C>T	19.37:g.47585472G>A		NA	Q9Y420	37	CCDS42582.1																																																																																			ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466667.1		-	ENST00000253048.5	Silent	SNP	19 : 47585472 - 47585472 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	367	5
ZFYVE20	64145	broad.mit.edu	37	3	15116060	15116060	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:15116060C>T	ENST00000253699.3	-	14	2197	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	ZFYVE20_ENST00000476527.2_Silent_p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	528	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTTCCAACTCCCGTTCACGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	3		NA											NA				15116060		2203	4300	6503	SO:0001819	synonymous_variant			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381	64145	64145		Zinc fingers, FYVE domain containing	20759	protein-coding gene	gene with protein product		609511			NA	11062261	Standard	NM_022340	XR_427283	NA	Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1584G>A	3.37:g.15116060C>T		NA	Q3KP30|Q59EY8|Q8NAQ1	37	CCDS2623.1																																																																																			ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252102.2		-	ENST00000253699.3	Silent	SNP	3 : 15116060 - 15116060 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	568	135
ZNF157	7712	broad.mit.edu	37	X	47272834	47272834	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47272834A>T	ENST00000377073.3	+	4	1448	c.1362A>T	c.(1360-1362)aaA>aaT	p.K454N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	454					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTATGTGAAAGTACGCCTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	70	73			NA	NA	X		NA											NA				47272834		2203	4300	6503	SO:0001583	missense			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117	7712	7712		Zinc fingers, C2H2-type, -	12942	protein-coding gene	gene with protein product		300024	zinc finger protein 157 (HZF22)		NA	8586441	Standard	NM_003446	NM_003446	NA	Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1362A>T	X.37:g.47272834A>T	ENSP00000366273:p.Lys454Asn	NA	Q96LE9	37	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	7.389	0.630476	0.14322	.	.	ENSG00000147117	ENST00000377073	T	0.13778	2.56	3.37	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	L	0.28054	0.825	0.09310	N	1	B	0.30482	0.281	B	0.24848	0.056	T	0.35895	-0.9770	9	0.26408	T	0.33	.	4.5131	0.11921	0.7149:0.0:0.2851:0.0	.	454	P51786	ZN157_HUMAN	N	454	ENSP00000366273:K454N	ENSP00000366273:K454N	K	+	3	2	ZNF157	47157778	0.000000	0.05858	0.678000	0.29963	0.998000	0.95712	-0.418000	0.07080	0.514000	0.28300	0.486000	0.48141	AAA	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056415.1		+	ENST00000377073.3	Missense_Mutation	SNP	X : 47272834 - 47272834 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	90	29
ZNF619	285267	broad.mit.edu	37	3	40529155	40529155	+	Missense_Mutation	SNP	C	C	T	rs139131960	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:40529155C>T	ENST00000314686.5	+	6	1511	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000447116.2_Missense_Mutation_p.S425L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L			E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	425					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCGCAGTTCGGTATTTCTT	0.443		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	62	65	64		1274,1022,1154	1.5	0	3	dbSNP_134	64	0,8600		0,0,4300	yes	missense,missense,missense	ZNF619	NM_001145082.2,NM_001145083.1,NM_001145093.2	145,145,145	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	425/617,341/533,385/577	40529155	2,13004	2203	4300	6503	SO:0001583	missense			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873	285267	285267		Zinc fingers, C2H2-type, -	26910	protein-coding gene	gene with protein product					NA		Standard	NM_173656	NM_001145083	NA	Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1106C>T	3.37:g.40529155C>T	ENSP00000322529:p.Ser369Leu	NA		37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.811	0.715641	0.15306	4.54E-4	0.0	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	2.44	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	M	0.81179	2.53	0.09310	N	1	D;P;P;D;P;P	0.67145	0.996;0.839;0.839;0.96;0.839;0.921	P;B;B;B;B;B	0.49683	0.619;0.071;0.071;0.394;0.098;0.118	T	0.14980	-1.0453	9	0.72032	D	0.01	.	4.6774	0.12719	0.2336:0.4962:0.2702:0.0	.	341;385;425;327;376;369	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	L	369;425;385;341;376;425;385	ENSP00000322529:S369L;ENSP00000411132:S425L;ENSP00000398024:S385L;ENSP00000397232:S341L;ENSP00000428004:S376L;ENSP00000430705:S425L;ENSP00000388710:S385L	ENSP00000322529:S369L	S	+	2	0	ZNF619	40504159	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.135000	0.03225	0.342000	0.23796	0.563000	0.77884	TCG	ZNF619-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254180.2		+	ENST00000314686.5	Missense_Mutation	SNP	3 : 40529155 - 40529155 T PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	263	54
ZNF746	155061	broad.mit.edu	37	7	149171720	149171720	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:149171720G>A	ENST00000340622.3	-	7	1970	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	564					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTGAAGGGCCGCACGCCCGTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	38	42			NA	NA	7		NA											NA				149171720		2202	4300	6502	SO:0001583	missense			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220	155061	155061		Zinc fingers, C2H2-type, -	21948	protein-coding gene	gene with protein product		613914			NA		Standard	NM_152557	NM_152557	NA	Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1690C>T	7.37:g.149171720G>A	ENSP00000345140:p.Arg564Trp	NA	A8K6Z9|Q6ZRF9	37	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654521	0.67472	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.15139	2.45;2.45	5.58	4.67	0.58626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000277	T	0.43010	0.1228	M	0.84082	2.675	0.36220	D	0.851953	D;D	0.89917	1.0;1.0	D;D	0.78314	0.917;0.991	T	0.55891	-0.8069	10	0.87932	D	0	-24.6663	11.729	0.51726	0.0:0.0:0.6974:0.3026	.	565;564	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	W	564;565	ENSP00000345140:R564W;ENSP00000395007:R565W	ENSP00000345140:R564W	R	-	1	2	ZNF746	148802653	0.497000	0.26067	1.000000	0.80357	0.991000	0.79684	0.576000	0.23744	2.630000	0.89119	0.462000	0.41574	CGG	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352730.1		-	ENST00000340622.3	Missense_Mutation	SNP	7 : 149171720 - 149171720 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	124	9
ZNF778	197320	broad.mit.edu	37	16	89294771	89294771	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:89294771G>A	ENST00000433976.2	+	6	2323	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CATAAACATGGAAGAATTCAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	50			NA	NA	16		NA											NA				89294771		2174	4291	6465	SO:0001583	missense			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100	197320	197320		Zinc fingers, C2H2-type, -	26479	protein-coding gene	gene with protein product					NA		Standard	NM_182531	NM_182531	NA	Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1991G>A	16.37:g.89294771G>A	ENSP00000405289:p.Gly664Glu	NA	Q08AG0	37	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993026	0.19043	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07327	3.2;3.2	1.21	-2.43	0.06522	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.01424	-0.875	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.40590	-0.9555	9	0.56958	D	0.05	.	2.2348	0.04005	0.3511:0.0:0.2421:0.4068	.	622;664	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	E	664;622	ENSP00000405289:G664E;ENSP00000305203:G622E	ENSP00000305203:G622E	G	+	2	0	ZNF778	87822272	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.083000	0.03397	-1.203000	0.02652	-0.534000	0.04291	GGA	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430383.1		+	ENST00000433976.2	Missense_Mutation	SNP	16 : 89294771 - 89294771 A PAAD-TCGA-3A-A9I9-Tumor-SM-5W7V7	128	4
