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
ABCA4	24	broad.mit.edu	37	1	94543309	94543309	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:94543309G>A	ENST00000370225.3	-	11	1577	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABCA4_ENST00000535735.1_Silent_p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	497					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCTCCAGTCGAAGTTGGCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	156	159			NA	NA	1		NA											NA				94543309		2203	4300	6503	SO:0001819	synonymous_variant			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1491C>T	1.37:g.94543309G>A		NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1																																																																																			ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Silent	SNP	1 : 94543309 - 94543309 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	634	18
ACSL5	51703	broad.mit.edu	37	10	114185121	114185121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:114185121G>A	ENST00000393081.1	+	18	1926	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H|ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	540					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCATCGACCGTAAAAAGAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	99			NA	NA	10		NA											NA				114185121		2203	4300	6503	SO:0001583	missense			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142	51703	51703		Acyl-CoA synthetase family	16526	protein-coding gene	gene with protein product	FACL5 for fatty acid coenzyme A ligase 5, long-chain acyl-CoA synthetase 5, long-chain fatty acid coenzyme A ligase 5, fatty-acid-Coenzyme A ligase, long-chain 5	605677	fatty-acid-Coenzyme A ligase, long-chain 5	FACL5	NA	11127823	Standard	NM_016234	NM_016234	NA	Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1619G>A	10.37:g.114185121G>A	ENSP00000376796:p.Arg540His	NA	D3DRB3|Q6UX44|Q9UIU4	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397637	0.96009	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.76	5.76	0.90799	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	H	0.99944	5.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.94232	0.7477	10	0.87932	D	0	-12.4887	19.9576	0.97228	0.0:0.0:1.0:0.0	.	322;540;596;540	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	H	540;540;596;540;540;322	ENSP00000346680:R540H;ENSP00000376796:R540H;ENSP00000348429:R596H;ENSP00000403647:R540H;ENSP00000346223:R540H;ENSP00000358418:R322H	ENSP00000346223:R540H	R	+	2	0	ACSL5	114175111	1.000000	0.71417	0.964000	0.40570	0.869000	0.49853	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CGT	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050386.1		+	ENST00000393081.1	Missense_Mutation	SNP	10 : 114185121 - 114185121 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	302	6
ADCY6	112	broad.mit.edu	37	12	49164612	49164612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:49164612G>A	ENST00000307885.4	-	19	3887	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1065					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCATGAGCCGCATGGCGTAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	114			NA	NA	12		NA											NA				49164612		2203	4300	6503	SO:0001583	missense				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	112	112	4.6.1.1	Adenylate cyclases	237	protein-coding gene	gene with protein product		600294			NA		Standard	NM_020983	NM_015270	NA	Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3193C>T	12.37:g.49164612G>A	ENSP00000311405:p.Arg1065Trp	NA	Q9NR75|Q9UDB0	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109958	0.77210	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.31510	1.49;1.49;1.49	4.88	4.88	0.63580	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.85041	2.73	0.49130	D	0.999752	D;D	0.89917	1.0;0.999	D;D	0.75020	0.963;0.985	T	0.63202	-0.6690	10	0.72032	D	0.01	.	12.7647	0.57385	0.0:0.0:0.8354:0.1646	.	1012;1065	O43306-2;O43306	.;ADCY6_HUMAN	W	1012;1012;1065	ENSP00000350536:R1012W;ENSP00000446730:R1012W;ENSP00000311405:R1065W	ENSP00000311405:R1065W	R	-	1	2	ADCY6	47450879	0.952000	0.32445	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.649000	0.89929	0.650000	0.86243	CGG	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408863.1		-	ENST00000307885.4	Missense_Mutation	SNP	12 : 49164612 - 49164612 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	421	6
ANK1	286	broad.mit.edu	37	8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:41519413G>A	ENST00000289734.7	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron	NM_000037.3	NP_000028.3	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1842	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTGGGCGGCATCGGCGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	55	53			NA	NA	8		NA											NA				41519413		2203	4300	6503	SO:0001583	missense			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534	286	286		Ankyrin repeat domain containing	492	protein-coding gene	gene with protein product		612641		ANK	NA	1689849	Standard	NM_020475	NM_001142445	NA	Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000289734.7:c.5525C>T	8.37:g.41519413G>A	ENSP00000289734:p.Ala1842Val	NA	A6NJ23|O43400|Q13768|Q59FP2|Q8N604|Q99407	37	CCDS6121.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223834	0.22457	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.86432	-0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23	5.94	2.12	0.27331	.	0.199600	0.40144	N	0.001173	T	0.81645	0.4866	L	0.42245	1.32	0.53005	D	0.99996	P;B;B;B;B;B;B;P;P	0.39940	0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696	B;B;B;B;B;B;B;B;B	0.41946	0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173	T	0.76465	-0.2949	10	0.42905	T	0.14	.	8.182	0.31315	0.0:0.0672:0.2624:0.6704	.	117;1883;1680;1842;1842;1842;996;117;117	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	V	1842;1842;1842;117;117;117;1883	ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V	ENSP00000265709:A1883V	A	-	2	0	ANK1	41638570	0.851000	0.29673	0.459000	0.27081	0.000000	0.00434	0.325000	0.19628	0.502000	0.28037	-0.397000	0.06425	GCC	ANK1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317298.1		-	ENST00000289734.7	Missense_Mutation	SNP	8 : 41519413 - 41519413 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	400	6
ANKRD34B	340120	broad.mit.edu	37	5	79855633	79855633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:79855633T>C	ENST00000338682.3	-	5	878	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	69						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTCTAACAGGTATTTCACCAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	161	160			NA	NA	5		NA											NA				79855633		2203	4300	6503	SO:0001583	missense				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127	340120	340120		Ankyrin repeat domain containing	33736	protein-coding gene	gene with protein product					NA		Standard	NM_001004441	NM_001004441	NA	Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.206A>G	5.37:g.79855633T>C	ENSP00000339802:p.Tyr69Cys	NA	B2RPH1|Q68D79	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063229	0.76187	.	.	ENSG00000189127	ENST00000338682	T	0.65916	-0.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.081459	0.50627	U	0.000101	T	0.72382	0.3453	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74948	-0.3490	10	0.72032	D	0.01	-14.1729	14.9417	0.70997	0.0:0.0:0.0:1.0	.	69	A5PLL1	AN34B_HUMAN	C	69	ENSP00000339802:Y69C	ENSP00000339802:Y69C	Y	-	2	0	ANKRD34B	79891389	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.900000	0.87376	2.201000	0.70794	0.459000	0.35465	TAC	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369475.1		-	ENST00000338682.3	Missense_Mutation	SNP	5 : 79855633 - 79855633 C PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	766	20
ANKRD55	79722	broad.mit.edu	37	5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	94										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	136	144			NA	NA	5		NA											NA				55472007		2203	4300	6503	SO:0001583	missense			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512	79722	79722		Ankyrin repeat domain containing	25681	protein-coding gene	gene with protein product		615189			NA		Standard	NM_024669	XM_005248599	NA	Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.284G>A	5.37:g.55472007C>T	ENSP00000342295:p.Arg95His	NA	Q3KP45|Q9HAD3	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426908	0.96131	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66460	-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.47190	1.495	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.76607	-0.2897	10	0.41790	T	0.15	.	18.5715	0.91137	0.0:1.0:0.0:0.0	.	95	B3KVT8	.	H	95;95;95;66;95	ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H	ENSP00000342295:R95H	R	-	2	0	ANKRD55	55507764	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.485000	0.73625	2.462000	0.83206	0.563000	0.77884	CGC	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368510.4		-	ENST00000341048.4	Missense_Mutation	SNP	5 : 55472007 - 55472007 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	576	5
ARID1B	57492	broad.mit.edu	37	6	157528497	157528497	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:157528497G>A	ENST00000346085.5	+	20	6223	c.6222G>A	c.(6220-6222)tcG>tcA	p.S2074S	ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000350026.5_Silent_p.S2061S|ARID1B_ENST00000275248.4_Silent_p.S2056S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2061					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACCCAACTCGGTCCTGTCGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	194	192			NA	NA	6		NA											NA				157528497		2203	4296	6499	SO:0001819	synonymous_variant			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.6222G>A	6.37:g.157528497G>A		NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1																																																																																			ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Silent	SNP	6 : 157528497 - 157528497 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	1156	41
C12orf74	338809	broad.mit.edu	37	12	93100538	93100538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:93100538G>A	ENST00000544406.2	+	2	397	c.131G>A	c.(130-132)cGc>cAc	p.R44H	C12orf74_ENST00000397833.3_Missense_Mutation_p.R44H			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	44										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCCCAGGCCGCATCTCCACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	43	43			NA	NA	12		NA											NA				93100538		1915	4120	6035	SO:0001583	missense			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215	338809	338809			27887	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001037671	NM_001037671	NA	Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000544406.2:c.131G>A	12.37:g.93100538G>A	ENSP00000446043:p.Arg44His	NA		37	CCDS53818.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903105	0.33628	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.08	0.47627	.	.	.	.	.	T	0.24084	0.0583	N	0.24115	0.695	0.18873	N	0.999983	P;P	0.43938	0.822;0.822	B;B	0.37943	0.261;0.261	T	0.06991	-1.0796	8	0.59425	D	0.04	-16.0586	9.522	0.39140	0.0971:0.0:0.9029:0.0	.	44;44	F5H4P0;Q32Q52	.;CL074_HUMAN	H	44	.	ENSP00000380933:R44H	R	+	2	0	C12orf74	91624669	0.014000	0.17966	0.083000	0.20561	0.338000	0.28826	1.061000	0.30542	1.295000	0.44724	0.462000	0.41574	CGC	C12orf74-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407286.1		+	ENST00000544406.2	Missense_Mutation	SNP	12 : 93100538 - 93100538 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	389	5
C2orf16	84226	broad.mit.edu	37	2	27804824	27804824	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:27804824G>C	ENST00000408964.2	+	1	5436	c.5385G>C	c.(5383-5385)gaG>gaC	p.E1795D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1795	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTGAGAGAAGCCATC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	157	156			NA	NA	2		NA											NA				27804824		1922	4129	6051	SO:0001583	missense			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843	84226	84226			25275	protein-coding gene	gene with protein product	P-S-E-R-S-H-H-S repeats containing				NA		Standard	NM_032266	NM_032266	NA	Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5385G>C	2.37:g.27804824G>C	ENSP00000386190:p.Glu1795Asp	NA	B9EIQ4|Q53S01|Q8ND64|Q9H088	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.281825	0.23392	.	.	ENSG00000221843	ENST00000408964	T	0.05786	3.39	3.95	1.17	0.20885	.	.	.	.	.	T	0.07369	0.0186	L	0.53249	1.67	0.09310	N	1	P	0.38300	0.626	B	0.36504	0.226	T	0.24297	-1.0164	9	0.52906	T	0.07	.	7.9068	0.29767	0.2806:0.0:0.7194:0.0	.	1795	Q68DN1	CB016_HUMAN	D	1795	ENSP00000386190:E1795D	ENSP00000386190:E1795D	E	+	3	2	C2orf16	27658328	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.437000	0.21543	0.251000	0.21505	0.407000	0.27541	GAG	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353292.1		+	ENST00000408964.2	Missense_Mutation	SNP	2 : 27804824 - 27804824 C PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	831	27
CAPN9	10753	broad.mit.edu	37	1	230928629	230928629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:230928629G>A	ENST00000354537.1	+	16	1829	c.1747G>A	c.(1747-1749)Ggc>Agc	p.G583S	CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	609	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAGTCCGGCACCATGTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	157	156			NA	NA	1		NA											NA				230928629		2203	4300	6503	SO:0001583	missense			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773	10753	10753		EF-hand domain containing	1486	protein-coding gene	gene with protein product	novel calpain large subunit-4	606401	calpain 9 (nCL-4)		NA	9524069, 10835488	Standard	NM_006615	XM_005273010	NA	Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000354537.1:c.1747G>A	1.37:g.230928629G>A	ENSP00000346538:p.Gly583Ser	NA	B1APS1|B1AQI0|Q9NS74	37	CCDS31053.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649288	0.87958	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.85339	-1.97;-1.97;-1.97	5.49	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95185	0.8303	10	0.66056	D	0.02	.	13.7944	0.63162	0.0746:0.0:0.9254:0.0	.	546;583;609	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	S	609;583;546	ENSP00000271971:G609S;ENSP00000346538:G583S;ENSP00000355626:G546S	ENSP00000271971:G609S	G	+	1	0	CAPN9	228995252	1.000000	0.71417	0.868000	0.34077	0.964000	0.63967	7.352000	0.79404	1.314000	0.45095	0.655000	0.94253	GGC	CAPN9-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092180.1		+	ENST00000354537.1	Missense_Mutation	SNP	1 : 230928629 - 230928629 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	728	28
CEACAM7	1087	broad.mit.edu	37	19	42190935	42190935	+	Silent	SNP	G	G	A	rs145571605	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:42190935G>A	ENST00000006724.3	-	2	483	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000338196.4_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	94	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGTTGTGTGCGGGCCCTGGGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		8,4398	12.9+/-30.5	0,8,2195	175	185	182		282	-3.4	0	19	dbSNP_134	182	0,8600		0,0,4300	no	coding-synonymous	CEACAM7	NM_006890.3		0,8,6495	AA,AG,GG	NA	0.0,0.1816,0.0615		94/266	42190935	8,12998	2203	4300	6503	SO:0001819	synonymous_variant			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306	1087	1087		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1819	protein-coding gene	gene with protein product	carcinoembryonic antigen gene family member 2			CGM2	NA	7806520, 9135022	Standard	NM_006890	XM_005278379	NA	Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.282C>T	19.37:g.42190935G>A		NA	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	37	CCDS12583.1																																																																																			CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321145.1		-	ENST00000006724.3	Silent	SNP	19 : 42190935 - 42190935 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	962	7
CELSR1	9620	broad.mit.edu	37	22	46806347	46806347	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	110	116			NA	NA	22		NA											NA				46806347		2203	4300	6503	SO:0001819	synonymous_variant			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	9620	9620		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	1850	protein-coding gene	gene with protein product	flamingo homolog 2 (Drosophila)	604523	cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog		NA	9339365	Standard	NM_014246	XM_006724383	NA	Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4881C>T	22.37:g.46806347G>A		NA	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	37	CCDS14076.1																																																																																			CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318037.1		-	ENST00000262738.3	Silent	SNP	22 : 46806347 - 46806347 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	635	6
CKAP5	9793	broad.mit.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				1	Substitution - Missense(1)	kidney(1)											239	197	211			NA	NA	11		NA											NA				46782199		2201	4299	6500	SO:0001583	missense				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4357C>T	11.37:g.46782199G>A	ENSP00000432768:p.Arg1453Cys	NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Missense_Mutation	SNP	11 : 46782199 - 46782199 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	323	12
CSF1	1435	broad.mit.edu	37	1	110458293	110458293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110458293T>C	ENST00000329608.6	+	3	591	c.200T>C	c.(199-201)tTt>tCt	p.F67S	CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	67					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAATTACATTTGAGTTTGTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	SER/PHE,SER/PHE,SER/PHE,SER/PHE	1,4405	2.1+/-5.4	0,1,2202	180	157	164		200,200,200,200	3	0.1	1		164	0,8600		0,0,4300	no	missense,missense,missense,missense	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	155,155,155,155	0,1,6502	CC,CT,TT	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	67/555,67/439,67/257,67/555	110458293	1,13005	2203	4300	6503	SO:0001583	missense			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371	1435	1435			2432	protein-coding gene	gene with protein product		120420			NA	1540160	Standard	NM_000757	NM_172210	NA	Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.200T>C	1.37:g.110458293T>C	ENSP00000327513:p.Phe67Ser	NA	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589665	0.28357	2.27E-4	0.0	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.46	3.04	0.35103	Four-helical cytokine-like, core (1);	0.227455	0.37304	N	0.002156	T	0.15955	0.0384	M	0.66939	2.045	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.992	D;P;P	0.64042	0.921;0.886;0.634	T	0.05321	-1.0892	10	0.87932	D	0	.	8.5803	0.33623	0.2814:0.0:0.0:0.7186	.	67;67;67	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	S	74;26;67;67;67;26;67;67;67	ENSP00000434527:F74S;ENSP00000431547:F26S;ENSP00000349854:F67S;ENSP00000342718:F67S;ENSP00000327513:F67S;ENSP00000433837:F26S;ENSP00000358817:F67S;ENSP00000407317:F67S;ENSP00000358816:F67S	ENSP00000327513:F67S	F	+	2	0	CSF1	110259816	1.000000	0.71417	0.068000	0.19968	0.003000	0.03518	1.209000	0.32357	0.400000	0.25396	0.459000	0.35465	TTT	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032208.1		+	ENST00000329608.6	Missense_Mutation	SNP	1 : 110458293 - 110458293 C PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	415	12
CSPG4	1464	broad.mit.edu	37	15	75968972	75968972	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:75968972T>A	ENST00000308508.5	-	10	5980	c.5888A>T	c.(5887-5889)cAg>cTg	p.Q1963L	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1963	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGCTGCTGCTGGCTCAGTGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	48	45			NA	NA	15		NA											NA				75968972		2196	4294	6490	SO:0001583	missense			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	1464	1464		Proteoglycans / Cell surface : Other	2466	protein-coding gene	gene with protein product	melanoma-associated chondroitin sulfate proteoglycan	601172	chondroitin sulfate proteoglycan 4 (melanoma-associated)		NA	8790396, 16407841	Standard	NM_001897	NM_001897	NA	Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5888A>T	15.37:g.75968972T>A	ENSP00000312506:p.Gln1963Leu	NA	D3DW77|Q92675	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399616	0.25291	.	.	ENSG00000173546	ENST00000308508	T	0.18016	2.24	5.15	-6.2	0.02072	.	0.815436	0.10720	N	0.641890	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.33214	-0.9877	10	0.25751	T	0.34	.	8.6049	0.33767	0.0:0.2126:0.3399:0.4475	.	1963	Q6UVK1	CSPG4_HUMAN	L	1963	ENSP00000312506:Q1963L	ENSP00000312506:Q1963L	Q	-	2	0	CSPG4	73756027	0.037000	0.19845	0.433000	0.26760	0.950000	0.60333	0.260000	0.18424	-1.050000	0.03230	-0.337000	0.08149	CAG	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286472.1		-	ENST00000308508.5	Missense_Mutation	SNP	15 : 75968972 - 75968972 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	610	25
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:118699217G>A	ENST00000320339.4	-	0	119				CXorf56_ENST00000371594.4_Silent_p.C34C|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	NA							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	X		NA											NA				118699217		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610	63932	63932			26239	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022101	NM_022101	NA	Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000320339.4:c.-153C>T	X.37:g.118699217G>A		NA	D3DWH9|O43351	37	CCDS55484.1																																																																																			CXorf56-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058042.3		-	ENST00000320339.4	5'UTR	SNP	X : 118699217 - 118699217 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	579	5
CXorf57	55086	broad.mit.edu	37	X	105855530	105855530	+	Missense_Mutation	SNP	G	G	A	rs146201497		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:105855530G>A	ENST00000372548.4	+	1	329	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	74										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTGCTGGCCGTCCAGAGGTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	84	88			NA	NA	X		NA											NA				105855530		2203	4300	6503	SO:0001583	missense			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231	55086	55086			25486	protein-coding gene	gene with protein product					NA		Standard	NM_018015	NM_018015	NA	Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.220G>A	X.37:g.105855530G>A	ENSP00000361628:p.Val74Ile	NA	Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9NWA6	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122698	0.37436	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80304	-1.36;-1.36	3.47	1.69	0.24217	Nucleic acid-binding, OB-fold-like (1);	0.292022	0.28338	N	0.015703	T	0.70518	0.3233	M	0.64997	1.995	0.26035	N	0.981682	P;P;B	0.36125	0.538;0.538;0.366	B;B;B	0.29942	0.109;0.109;0.035	T	0.58446	-0.7635	10	0.30078	T	0.28	-2.4941	7.0559	0.25099	0.233:0.0:0.767:0.0	.	74;74;74	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	74	ENSP00000361623:V74I;ENSP00000361628:V74I	ENSP00000361623:V74I	V	+	1	0	CXorf57	105742186	0.338000	0.24775	0.468000	0.27192	0.810000	0.45777	0.505000	0.22642	0.314000	0.23086	0.600000	0.82982	GTC	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057800.2		+	ENST00000372548.4	Missense_Mutation	SNP	X : 105855530 - 105855530 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	528	6
DBT	1629	broad.mit.edu	37	1	100681577	100681577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100681577G>A	ENST00000370132.4	-	6	747	c.734C>T	c.(733-735)cCg>cTg	p.P245L	DBT_ENST00000370131.3_Missense_Mutation_p.P245L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	NA					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTGAATACCGGAGGTTTTGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	232	233			NA	NA	1		NA											NA				100681577		2203	4300	6503	SO:0001583	missense			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992	1629	1629			2698	protein-coding gene	gene with protein product		248610	dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)		NA	1420314, 1429740	Standard	NM_001918	NM_001918	NA	Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.734C>T	1.37:g.100681577G>A	ENSP00000359151:p.Pro245Leu	NA	B2R811|Q5VVL8	37	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	3.697	-0.062301	0.07317	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.34275	1.37;1.37	5.66	0.124	0.14714	Chloramphenicol acetyltransferase-like domain (1);	0.712173	0.14328	N	0.326549	T	0.05227	0.0139	N	0.14661	0.345	0.19945	N	0.999947	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.40534	-0.9558	10	0.16420	T	0.52	1.0E-4	4.1964	0.10445	0.5271:0.0:0.3072:0.1657	.	64;245	F5H1F9;P11182	.;ODB2_HUMAN	L	64;245;245	ENSP00000359151:P245L;ENSP00000359150:P245L	ENSP00000359150:P245L	P	-	2	0	DBT	100454165	0.017000	0.18338	0.003000	0.11579	0.011000	0.07611	0.567000	0.23608	0.358000	0.24211	-0.150000	0.13652	CCG	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030101.2		-	ENST00000370132.4	Missense_Mutation	SNP	1 : 100681577 - 100681577 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	642	5
DCLK1	9201	broad.mit.edu	37	13	36445384	36445384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:36445384T>G	ENST00000255448.4	-	5	1128	c.917A>C	c.(916-918)aAg>aCg	p.K306T	DCLK1_ENST00000360631.3_Missense_Mutation_p.K306T|DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	306	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCAGGGGACTTGCTACGCCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	187	191			NA	NA	13		NA											NA				36445384		2203	4300	6503	SO:0001583	missense			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083	9201	9201			2700	protein-coding gene	gene with protein product		604742	doublecortin and CaM kinase-like 1	DCAMKL1	NA	9747029, 10036192	Standard	NM_004734	NM_004734	NA	Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000255448.4:c.917A>C	13.37:g.36445384T>G	ENSP00000255448:p.Lys306Thr	NA	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	37	CCDS9354.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125614	0.77436	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.68765	-0.35;-0.35;1.65	5.28	5.28	0.74379	.	0.112949	0.64402	D	0.000015	T	0.80894	0.4711	M	0.75777	2.31	0.53688	D	0.999973	D	0.76494	0.999	D	0.72982	0.979	T	0.82244	-0.0553	10	0.51188	T	0.08	.	15.5029	0.75713	0.0:0.0:0.0:1.0	.	306	O15075-2	.	T	306	ENSP00000255448:K306T;ENSP00000353846:K306T;ENSP00000369222:K306T	ENSP00000255448:K306T	K	-	2	0	DCLK1	35343384	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.611000	0.67674	2.115000	0.64714	0.533000	0.62120	AAG	DCLK1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044483.1		-	ENST00000255448.4	Missense_Mutation	SNP	13 : 36445384 - 36445384 G PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	556	6
DIAPH1	1729	broad.mit.edu	37	5	140908384	140908384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140908384C>T	ENST00000389054.3	-	21	3034	c.2894G>A	c.(2893-2895)cGt>cAt	p.R965H	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R969H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H			O60610	DIAP1_HUMAN	diaphanous-related formin 1	968	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCTTACGTAACTCCTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	85	87			NA	NA	5		NA											NA				140908384		2040	4206	6246	SO:0001583	missense			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504	1729	1729			2876	protein-coding gene	gene with protein product		602121	diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila)	DFNA1	NA	9360932, 1350680	Standard	NM_005219	NM_005219	NA	Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000389054.3:c.2894G>A	5.37:g.140908384C>T	ENSP00000373706:p.Arg965His	NA	A6NF18|B7ZKW2|Q59FH8|Q9UC76	37		.	.	.	.	.	.	.	.	.	.	C	12.18	1.859456	0.32884	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.27	4.4	0.53042	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.224000	0.36815	N	0.002392	T	0.21550	0.0519	M	0.66439	2.03	0.53688	D	0.999978	B;B;B	0.28971	0.229;0.145;0.145	B;B;B	0.18561	0.022;0.022;0.022	T	0.04440	-1.0951	10	0.87932	D	0	.	9.2173	0.37355	0.0:0.8317:0.0:0.1683	.	911;959;968	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	965;911;944;959;960;968;969;956	ENSP00000373706:R965H;ENSP00000429282:R911H;ENSP00000381570:R944H;ENSP00000373709:R959H;ENSP00000381572:R960H;ENSP00000381565:R968H;ENSP00000253811:R969H;ENSP00000428268:R956H	ENSP00000253811:R969H	R	-	2	0	DIAPH1	140888568	0.432000	0.25554	0.794000	0.32065	0.295000	0.27426	1.344000	0.33941	1.209000	0.43321	-0.259000	0.10710	CGT	DIAPH1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000313771.3		-	ENST00000389054.3	Missense_Mutation	SNP	5 : 140908384 - 140908384 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	344	6
F5	2153	broad.mit.edu	37	1	169510281	169510281	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:169510281G>A	ENST00000367796.3	-	13	4263	c.4062C>T	c.(4060-4062)tcC>tcT	p.S1354S	F5_ENST00000367797.3_Silent_p.S1349S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1349	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S1349S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CGAGGGCTGGGGAAAGGTTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											196	218	211			NA	NA	1		NA											NA				169510281		2203	4300	6503	SO:0001819	synonymous_variant			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734	2153	2153			3542	protein-coding gene	gene with protein product		612309			NA		Standard	NM_000130	NM_000130	NA	Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367796.3:c.4062C>T	1.37:g.169510281G>A		NA	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	37																																																																																				F5-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000083713.1		-	ENST00000367796.3	Silent	SNP	1 : 169510281 - 169510281 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	1246	7
FAM155A	728215	broad.mit.edu	37	13	108518385	108518385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:108518385G>A	ENST00000375915.2	-	1	698	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	187						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACCGCGTCCGCATTCTCCAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	51	48			NA	NA	13		NA											NA				108518385		2201	4296	6497	SO:0001583	missense			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442	728215	728215			33877	protein-coding gene	gene with protein product					NA		Standard	NM_001080396	NM_001080396	NA	Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.560C>T	13.37:g.108518385G>A	ENSP00000365080:p.Ala187Val	NA	B2RUV1|B7Z334	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734242	0.48939	.	.	ENSG00000204442	ENST00000375915	T	0.11169	2.8	5.89	5.04	0.67666	.	0.189112	0.43919	D	0.000518	T	0.16981	0.0408	L	0.29908	0.895	0.44085	D	0.996848	D	0.71674	0.998	P	0.54346	0.749	T	0.01146	-1.1437	10	0.62326	D	0.03	.	15.5308	0.75960	0.0:0.0:0.8609:0.1391	.	187	B1AL88	F155A_HUMAN	V	187	ENSP00000365080:A187V	ENSP00000365080:A187V	A	-	2	0	FAM155A	107316386	1.000000	0.71417	0.980000	0.43619	0.004000	0.04260	9.147000	0.94646	1.479000	0.48272	-0.314000	0.08810	GCG	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045736.2		-	ENST00000375915.2	Missense_Mutation	SNP	13 : 108518385 - 108518385 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	669	7
FFAR3	2865	broad.mit.edu	37	19	35850345	35850345	+	Missense_Mutation	SNP	C	C	T	rs150489647		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:35850345C>T	ENST00000327809.4	+	2	754	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	185						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTGCCCGTGCGGCTGGAGAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(185;1742 2042 21963 24215 27871)							NA				0													36	30	32			NA	NA	19		NA											NA				35850345		2201	4298	6499	SO:0001583	missense			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897	2865	2865		GPCR / Class A : Fatty acid receptors	4499	protein-coding gene	gene with protein product		603821	G protein-coupled receptor 41	GPR41	NA	9344866, 22493486	Standard	NM_005304	NM_005304	NA	Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.553C>T	19.37:g.35850345C>T	ENSP00000328230:p.Arg185Trp	NA	B2RWM8|Q14CM7	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255435	0.39896	.	.	ENSG00000185897	ENST00000327809	T	0.37752	1.18	5.13	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.59932	0.2230	M	0.82517	2.595	0.38954	D	0.958414	D	0.89917	1.0	D	0.97110	1.0	T	0.65516	-0.6149	10	0.38643	T	0.18	-24.346	13.0743	0.59079	0.316:0.684:0.0:0.0	.	185	O14843	FFAR3_HUMAN	W	185	ENSP00000328230:R185W	ENSP00000328230:R185W	R	+	1	2	FFAR3	40542185	0.985000	0.35326	0.625000	0.29200	0.069000	0.16628	3.235000	0.51328	1.110000	0.41699	0.455000	0.32223	CGG	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418873.2		+	ENST00000327809.4	Missense_Mutation	SNP	19 : 35850345 - 35850345 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	363	6
FYCO1	79443	broad.mit.edu	37	3	46000100	46000100	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:46000100C>T	ENST00000296137.2	-	13	3804	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H	FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1200					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACAGAAGATGCGGCCACATAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	3		NA											NA				46000100		2203	4300	6503	SO:0001583	missense			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820	79443	79443		Zinc fingers, FYVE domain containing	14673	protein-coding gene	gene with protein product		607182			NA	11896456	Standard	NM_024513	NM_024513	NA	Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3599G>A	3.37:g.46000100C>T	ENSP00000296137:p.Arg1200His	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437129	0.62955	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.73258	-0.73;-0.73	5.73	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	L	0.60067	1.865	0.49483	D	0.999799	P;P	0.48911	0.798;0.917	B;P	0.45037	0.229;0.467	T	0.65134	-0.6242	9	.	.	.	-9.3005	10.0647	0.42297	0.0:0.8454:0.0:0.1546	.	1200;1200	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	H	1200	ENSP00000296137:R1200H;ENSP00000441178:R1200H	.	R	-	2	0	FYCO1	45975104	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	2.845000	0.48254	0.782000	0.33613	0.650000	0.86243	CGC	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Missense_Mutation	SNP	3 : 46000100 - 46000100 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	381	5
GRHL3	57822	broad.mit.edu	37	1	24669202	24669202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:24669202C>T	ENST00000361548.4	+	10	1455	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	GRHL3_ENST00000350501.5_Missense_Mutation_p.R409C|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C|GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GAGGAAGATGCGCGATGACGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	1		NA											NA				24669202		2203	4300	6503	SO:0001583	missense			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055	57822	57822			25839	protein-coding gene	gene with protein product		608317	transcription factor CP2-like 4	TFCP2L4	NA	12549979	Standard	NM_021180	NM_021180	NA	Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000361548.4:c.1225C>T	1.37:g.24669202C>T	ENSP00000354943:p.Arg409Cys	NA	Q5TH78|Q86Y06|Q8N407	37	CCDS44088.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694695	0.68386	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.963;0.966;0.966	T	0.46233	-0.9206	10	0.87932	D	0	-26.275	10.9458	0.47299	0.2909:0.7091:0.0:0.0	.	363;414;409	A2A297;Q8TE85-2;G3XAF0	.;.;.	C	409;316;409;363;414	ENSP00000354943:R409C;ENSP00000340543:R316C;ENSP00000288955:R409C;ENSP00000348333:R363C;ENSP00000236255:R414C	ENSP00000236255:R414C	R	+	1	0	GRHL3	24541789	0.988000	0.35896	1.000000	0.80357	0.991000	0.79684	0.145000	0.16157	2.585000	0.87301	0.655000	0.94253	CGC	GRHL3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392498.1		+	ENST00000361548.4	Missense_Mutation	SNP	1 : 24669202 - 24669202 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	686	6
GTSF1	121355	broad.mit.edu	37	12	54858949	54858949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:54858949C>T	ENST00000552397.1	-	3	915	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|GTSF1_ENST00000552395.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	7							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCCAGGGAGTCGGCTGAAAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP	1,4405		0,1,2202	110	103	106		19	5.6	1	12		106	0,8600		0,0,4300	yes	missense	GTSF1	NM_144594.2	23	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	7/168	54858949	1,13005	2203	4300	6503	SO:0001583	missense			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627	121355	121355			26565	protein-coding gene	gene with protein product			family with sequence similarity 112, member B	FAM112B	NA	12477932	Standard	NM_144594	NM_144594	NA	Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.19G>A	12.37:g.54858949C>T	ENSP00000446485:p.Asp7Asn	NA	B3KQ60|Q0VGM4|Q8N778	37	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672837	0.88445	2.27E-4	0.0	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.54071	0.59;0.59	5.57	5.57	0.84162	.	0.152500	0.56097	D	0.000021	T	0.59878	0.2226	M	0.68952	2.095	0.47621	D	0.999471	D	0.63046	0.992	P	0.48454	0.578	T	0.59451	-0.7452	10	0.37606	T	0.19	-22.3962	17.4106	0.87484	0.0:1.0:0.0:0.0	.	7	Q8WW33	GTSF1_HUMAN	N	7	ENSP00000446485:D7N;ENSP00000304185:D7N	ENSP00000304185:D7N	D	-	1	0	GTSF1	53145216	0.979000	0.34478	0.999000	0.59377	0.916000	0.54674	2.429000	0.44758	2.785000	0.95823	0.655000	0.94253	GAC	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406187.1		-	ENST00000552397.1	Missense_Mutation	SNP	12 : 54858949 - 54858949 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	273	8
H2AFZ	3015	broad.mit.edu	37	4	100870830	100870830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:100870830G>A	ENST00000296417.5	-	2	288	c.71C>T	c.(70-72)gCc>gTc	p.A24V	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	24					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTGCAAGCCGGCTCTCTGCGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	89	86			NA	NA	4		NA											NA				100870830		2203	4300	6503	SO:0001583	missense			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032	3015	3015		Histones / Replication-independent	4741	protein-coding gene	gene with protein product		142763		H2AZ	NA	1697587	Standard	NM_002106	XM_005262971	NA	Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.71C>T	4.37:g.100870830G>A	ENSP00000296417:p.Ala24Val	NA	B2RD56|P17317|Q6I9U0	37	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224399	0.95139	.	.	ENSG00000164032	ENST00000296417	D	0.87256	-2.23	3.33	3.33	0.38152	Histone-fold (2);Histone core (1);Histone H2A (3);	0.103484	0.64402	N	0.000003	D	0.96056	0.8715	H	0.99435	4.565	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	D	0.97952	1.0332	10	0.87932	D	0	-4.0732	14.8277	0.70125	0.0:0.0:1.0:0.0	.	24	P0C0S5	H2AZ_HUMAN	V	24	ENSP00000296417:A24V	ENSP00000296417:A24V	A	-	2	0	H2AFZ	101089853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.355000	0.90083	1.697000	0.51169	0.455000	0.32223	GCC	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253695.1		-	ENST00000296417.5	Missense_Mutation	SNP	4 : 100870830 - 100870830 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	741	6
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	114	109			NA	NA	9		NA											NA				99227683		2203	4300	6503	SO:0001583	missense			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956	22927	22927			17062	protein-coding gene	gene with protein product					NA	9523163, 10887182	Standard	NM_014282	XM_005251812	NA	Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys	NA	O75804|Q8WV33|Q9NYJ2	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053269.1		+	ENST00000375249.4	Missense_Mutation	SNP	9 : 99227683 - 99227683 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	528	8
HTRA1	5654	broad.mit.edu	37	10	124273731	124273731	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:124273731C>A	ENST00000368984.3	+	9	1427	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAAACGACGTCATAATCAGCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													336	302	314			NA	NA	10		NA											NA				124273731		2203	4300	6503	SO:0001819	synonymous_variant			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033	5654	5654		Serine peptidases / Serine peptidases	9476	protein-coding gene	gene with protein product		602194	protease, serine, 11 (IGF binding)	PRSS11	NA	8977104	Standard	NM_002775	NM_002775	NA	Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1299C>A	10.37:g.124273731C>A		NA	D3DRE4|Q9UNS5	37	CCDS7630.1																																																																																			HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128327.1		+	ENST00000368984.3	Silent	SNP	10 : 124273731 - 124273731 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	963	21
ITGAD	3681	broad.mit.edu	37	16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	951					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R951Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGAGCATCGATACCGTGTG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											78	67	71			NA	NA	16		NA											NA				31434506		2197	4300	6497	SO:0001583	missense			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886	3681	3681		CD molecules, Integrins	6146	protein-coding gene	gene with protein product		602453			NA	8666289, 9598326	Standard	NM_005353	NM_005353	NA	Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2852G>A	16.37:g.31434506G>A	ENSP00000373854:p.Arg951Gln	NA	Q15575|Q15576	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331575	0.24167	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44482	0.92	5.59	1.43	0.22495	Integrin alpha-2 (1);	.	.	.	.	T	0.20251	0.0487	L	0.28400	0.85	0.09310	N	1	P;P	0.47034	0.889;0.889	B;B	0.28638	0.092;0.092	T	0.09443	-1.0674	9	0.20046	T	0.44	.	7.3842	0.26872	0.3411:0.0:0.6589:0.0	.	967;951	Q59H14;Q13349	.;ITAD_HUMAN	Q	967;951	ENSP00000373854:R951Q	ENSP00000373854:R951Q	R	+	2	0	ITGAD	31342007	0.000000	0.05858	0.003000	0.11579	0.453000	0.32348	-0.053000	0.11846	0.704000	0.31869	0.650000	0.86243	CGA	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432836.1		+	ENST00000389202.2	Missense_Mutation	SNP	16 : 31434506 - 31434506 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	215	5
ITIH5	80760	broad.mit.edu	37	10	7679231	7679231	+	Silent	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	204					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTTGTGAAGCGGCAGCACCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	10		NA											NA				7679231		2203	4300	6503	SO:0001819	synonymous_variant					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.612G>A	10.37:g.7679231C>T		NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37																																																																																				ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Silent	SNP	10 : 7679231 - 7679231 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	709	24
KIAA0226L	80183	broad.mit.edu	37	13	46946277	46946277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:46946277C>T	ENST00000409879.2	-	4	1125				KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000429979.1_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I			Q9H714	CM018_HUMAN	KIAA0226-like	NA										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCGCTGCCAACGGAGTCTGTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	13		NA											NA				46946277		2203	4300	6503	SO:0001627	intron_variant			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445	80183	80183			20420	protein-coding gene	gene with protein product			chromosome 13 open reading frame 18	C13orf18	NA		Standard	NM_025113	NM_001286766	NA	Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000409879.2:c.65-3327G>A	13.37:g.46946277C>T		NA	A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	37		.	.	.	.	.	.	.	.	.	.	C	6.866	0.529169	0.13127	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T;T	0.44482	0.93;0.95;0.93;0.95;0.95;0.93;0.92	5.04	-10.1	0.00402	.	2.645840	0.00956	N	0.003022	T	0.12178	0.0296	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.16928	-1.0386	10	0.05620	T	0.96	2.5859	6.7654	0.23564	0.1041:0.5403:0.2256:0.13	.	112;112;112;45;112	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	I	112;112;112;45;112;112;112	ENSP00000368057:V112I;ENSP00000396935:V112I;ENSP00000368074:V112I;ENSP00000368061:V45I;ENSP00000374558:V112I;ENSP00000368064:V112I;ENSP00000414579:V112I	ENSP00000368057:V112I	V	-	1	0	KIAA0226L	45844278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-2.358000	0.00611	-1.306000	0.01317	GTT	KIAA0226L-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335435.2		-	ENST00000409879.2	Intron	SNP	13 : 46946277 - 46946277 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	311	11
KIR3DL1	3811	broad.mit.edu	37	19	55341591	55341591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:55341591C>T	ENST00000391728.4	+	9	1229	c.1196C>T	c.(1195-1197)gCa>gTa	p.A399V	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	NA										breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGACATACGCACAGTTGGAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													264	240	248			NA	NA	19		NA											NA				55341591		2172	4170	6342	SO:0001583	missense			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633	3811	3811		Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6338	protein-coding gene	gene with protein product		604946		KIR	NA	7716543, 7749980	Standard	NM_013289	NM_013289	NA	Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1196C>T	19.37:g.55341591C>T	ENSP00000375608:p.Ala399Val	NA		37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	7.992	0.753548	0.15778	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00518	7.09;6.86;7.09;6.86;7.04	0.719	0.719	0.18208	.	.	.	.	.	T	0.00784	0.0026	M	0.88640	2.97	0.09310	N	1	B;B;B	0.28470	0.213;0.001;0.019	B;B;B	0.27170	0.077;0.008;0.022	T	0.28902	-1.0029	8	0.87932	D	0	.	.	.	.	.	382;304;399	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	V	399;382;377;399;382;304	ENSP00000443350:A399V;ENSP00000442355:A382V;ENSP00000375608:A399V;ENSP00000326868:A382V;ENSP00000350901:A304V	ENSP00000326868:A382V	A	+	2	0	KIR3DL1	60033403	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.227000	0.17795	0.680000	0.31366	0.184000	0.17185	GCA	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141238.1		+	ENST00000391728.4	Missense_Mutation	SNP	19 : 55341591 - 55341591 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	594	9
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	0	0
LAYN	143903	broad.mit.edu	37	11	111428363	111428363	+	Silent	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:111428363A>G	ENST00000375614.2	+	6	1092	c.756A>G	c.(754-756)agA>agG	p.R252R	LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000436913.2_Silent_p.R107R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375615.3_Silent_p.R260R|LAYN_ENST00000528924.1_3'UTR	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	260						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GGATCTGTAGAAAAAGGCAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(17;551 586 12136 22082 22900)							NA				0													465	451	456			NA	NA	11		NA											NA				111428363		2201	4297	6498	SO:0001819	synonymous_variant				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381	143903	143903			29471	protein-coding gene	gene with protein product					NA	15913605	Standard	NM_178834	NM_001258390	NA	Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375614.2:c.756A>G	11.37:g.111428363A>G		NA	A6NJB0|Q8TAY8|Q96NC5|Q96NF3	37	CCDS31676.1																																																																																			LAYN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391186.1		+	ENST00000375614.2	Silent	SNP	11 : 111428363 - 111428363 G PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	1669	52
LGSN	51557	broad.mit.edu	37	6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	482					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACAAAATATCGAATAAAGGTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	78	76			NA	NA	6		NA											NA				63990012		2203	4300	6503	SO:0001587	stop_gained			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166	51557	51557			21016	protein-coding gene	gene with protein product		611470	glutamate-ammonia ligase (glutamine synthetase) domain containing 1	GLULD1	NA	12107412	Standard	NM_016571	NM_016571	NA	Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1444C>T	6.37:g.63990012G>A	ENSP00000359691:p.Arg482*	NA	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373680	0.61624	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.7	3.86	0.44501	.	0.362303	0.32884	N	0.005523	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.5437	14.1084	0.65107	0.0:0.0:0.6109:0.3891	.	.	.	.	X	482	.	ENSP00000359691:R482X	R	-	1	2	LGSN	64047971	1.000000	0.71417	0.856000	0.33681	0.358000	0.29455	4.385000	0.59613	0.703000	0.31848	0.655000	0.94253	CGA	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041076.2		-	ENST00000370657.4	Nonsense_Mutation	SNP	6 : 63990012 - 63990012 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	371	11
MAP2K3	5606	broad.mit.edu	37	17	21204188	21204188	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204188G>A	ENST00000342679.4	+	5	531	c.282G>A	c.(280-282)cgG>cgA	p.R94R	MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_Silent_p.R65R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	94	Protein kinase.		R -> L (in dbSNP:rs56067280).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				NA				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCTGCAGCGGATCCGGGCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	81	86			NA	NA	17		NA											NA				21204188		2203	4300	6503	SO:0001819	synonymous_variant			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152	5606	5606		Mitogen-activated protein kinase cascade / Kinase kinases	6843	protein-coding gene	gene with protein product	MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3	602315		PRKMK3	NA	9465908	Standard	NM_145109	NM_145109	NA	Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.282G>A	17.37:g.21204188G>A		NA	B3KSK7|Q99441|Q9UE71|Q9UE72	37	CCDS11217.1																																																																																			MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259374.2		+	ENST00000342679.4	Silent	SNP	17 : 21204188 - 21204188 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	345	6
MAP2K3	5606	broad.mit.edu	37	17	21204218	21204218	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204218G>A	ENST00000342679.4	+	5	561	c.312G>A	c.(310-312)caG>caA	p.Q104Q	MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_Silent_p.Q75Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	104	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				NA				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CACAGGAGCAGAAGCGGCTGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	102	110			NA	NA	17		NA											NA				21204218		2203	4300	6503	SO:0001819	synonymous_variant			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152	5606	5606		Mitogen-activated protein kinase cascade / Kinase kinases	6843	protein-coding gene	gene with protein product	MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3	602315		PRKMK3	NA	9465908	Standard	NM_145109	NM_145109	NA	Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.312G>A	17.37:g.21204218G>A		NA	B3KSK7|Q99441|Q9UE71|Q9UE72	37	CCDS11217.1																																																																																			MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259374.2		+	ENST00000342679.4	Silent	SNP	17 : 21204218 - 21204218 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	441	6
MAP7	9053	broad.mit.edu	37	6	136742933	136742933	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:136742933G>A	ENST00000354570.3	-	2	482	c.72C>T	c.(70-72)ccC>ccT	p.P24P	MAP7_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000544465.1_Silent_p.P9P|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Silent_p.P46P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	24					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTAGCTGTCGGGTGCTACAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	99	100			NA	NA	6		NA											NA				136742933		2203	4300	6503	SO:0001819	synonymous_variant			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525	9053	9053			6869	protein-coding gene	gene with protein product		604108			NA	8408219	Standard	NM_003980	NM_003980	NA	Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.72C>T	6.37:g.136742933G>A		NA	Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	37	CCDS5178.1																																																																																			MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042382.2		-	ENST00000354570.3	Silent	SNP	6 : 136742933 - 136742933 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	384	6
MTNR1B	4544	broad.mit.edu	37	11	92715132	92715132	+	Missense_Mutation	SNP	G	G	A	rs150751119		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:92715132G>A	ENST00000257068.2	+	2	749	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	248					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGCGACTTGCGGAGCTTTCTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	0,4402		0,0,2201	114	94	101		743	4.2	1	11	dbSNP_134	101	1,8595	1.2+/-3.3	0,1,4297	no	missense	MTNR1B	NM_005959.3	43	0,1,6498	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	248/363	92715132	1,12997	2201	4298	6499	SO:0001583	missense			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640	4544	4544		GPCR / Class A : Melatonin receptors	7464	protein-coding gene	gene with protein product		600804			NA		Standard		NM_005959	NA	Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.743G>A	11.37:g.92715132G>A	ENSP00000257068:p.Arg248Gln	NA		37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069708	0.93950	0.0	1.16E-4	ENSG00000134640	ENST00000257068	T	0.40225	1.04	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.84683	2.71	0.80722	D	1	D	0.57257	0.979	P	0.51170	0.661	T	0.70923	-0.4740	10	0.72032	D	0.01	-22.6709	17.1314	0.86727	0.0:0.0:1.0:0.0	.	248	P49286	MTR1B_HUMAN	Q	248	ENSP00000257068:R248Q	ENSP00000257068:R248Q	R	+	2	0	MTNR1B	92354780	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	4.111000	0.57838	2.338000	0.79540	0.491000	0.48974	CGG	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394323.1		+	ENST00000257068.2	Missense_Mutation	SNP	11 : 92715132 - 92715132 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	376	7
MXRA5	25878	broad.mit.edu	37	X	3242386	3242386	+	Missense_Mutation	SNP	G	G	A	rs146759954	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:3242386G>A	ENST00000217939.6	-	5	1494	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	447						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCTTGGCCGTACTCTGACG	0.488		NA											G	1	6e-04	0.0027	NA	1659	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV	NA	NA	0.0013	SNP								NA				0								G	MET/THR	1,3834		0,1,0,1631,571	128	125	126		1340	3.6	0	X	dbSNP_134	126	3,6725		0,1,2,2427,1870	yes	missense	MXRA5	NM_015419.3	81	0,2,2,4058,2441	AA,AG,A,GG,G	NA	0.0446,0.0261,0.0379	possibly-damaging	447/2829	3242386	4,10559	2203	4300	6503	SO:0001583	missense			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825	25878	25878		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7539	protein-coding gene	gene with protein product	adlican				NA	12101425	Standard	NM_015419	NM_015419	NA	Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1340C>T	X.37:g.3242386G>A	ENSP00000217939:p.Thr447Met	NA	Q6P1M7|Q9Y3Y8	37	CCDS14124.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.72	1.724062	0.30593	2.61E-4	4.46E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.75050	-0.9	3.63	3.63	0.41609	.	0.177406	0.26673	U	0.023082	T	0.80793	0.4691	M	0.76002	2.32	0.25976	N	0.982438	D	0.76494	0.999	P	0.57846	0.828	T	0.72874	-0.4160	10	0.72032	D	0.01	.	9.133	0.36857	0.1065:0.0:0.8935:0.0	.	447	Q9NR99	MXRA5_HUMAN	M	447	ENSP00000217939:T447M	ENSP00000217939:T447M	T	-	2	0	MXRA5	3252386	1.000000	0.71417	0.006000	0.13384	0.069000	0.16628	5.122000	0.64697	1.439000	0.47511	0.431000	0.28591	ACG	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055655.2		-	ENST00000217939.6	Missense_Mutation	SNP	X : 3242386 - 3242386 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	801	10
MYBBP1A	10514	broad.mit.edu	37	17	4453441	4453441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4453441G>A	ENST00000254718.4	-	9	1537	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	411	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACATGGCCCGCAGCCAGGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	77	74			NA	NA	17		NA											NA				4453441		2203	4300	6503	SO:0001583	missense			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382	10514	10514			7546	protein-coding gene	gene with protein product	p53-activated protein-2	604885			NA	10644447	Standard	NM_014520	NM_014520	NA	Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1231C>T	17.37:g.4453441G>A	ENSP00000254718:p.Arg411Trp	NA	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462466	0.43736	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.52057	0.68;0.68	5.06	5.06	0.68205	Armadillo-type fold (1);	0.730054	0.13638	N	0.373192	T	0.52549	0.1741	L	0.51422	1.61	0.25166	N	0.990316	D;D	0.60160	0.987;0.984	P;P	0.52909	0.713;0.59	T	0.44559	-0.9320	10	0.41790	T	0.15	-17.3908	10.9319	0.47222	0.0:0.0:0.8133:0.1867	.	411;411	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	W	411	ENSP00000370968:R411W;ENSP00000254718:R411W	ENSP00000254718:R411W	R	-	1	2	MYBBP1A	4400190	0.867000	0.29959	0.946000	0.38457	0.017000	0.09413	4.116000	0.57871	2.642000	0.89623	0.655000	0.94253	CGG	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207488.2		-	ENST00000254718.4	Missense_Mutation	SNP	17 : 4453441 - 4453441 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	335	6
NOL12	79159	broad.mit.edu	37	22	38084889	38084889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:38084889G>A	ENST00000359114.4	+	4	341	c.271G>A	c.(271-273)Gca>Aca	p.A91T	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	91						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GTTGGTGACAGCAAAGACGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	151	162			NA	NA	22		NA											NA				38084889		2203	4300	6503	SO:0001583	missense			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899	79159	79159			28585	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024313	NM_024313	NA	Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.271G>A	22.37:g.38084889G>A	ENSP00000352021:p.Ala91Thr	NA		37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298685	0.60195	.	.	ENSG00000256872	ENST00000359114	D	0.83755	-1.76	5.47	4.42	0.53409	.	0.363801	0.32671	N	0.005785	T	0.69646	0.3134	N	0.08118	0	0.22171	N	0.99931	P	0.43578	0.811	B	0.43838	0.433	T	0.66064	-0.6016	10	0.66056	D	0.02	-8.0737	10.4831	0.44706	0.0:0.0:0.6681:0.3319	.	91	Q9UGY1	NOL12_HUMAN	T	91	ENSP00000352021:A91T	ENSP00000352021:A91T	A	+	1	0	Z83844.2	36414835	0.998000	0.40836	0.974000	0.42286	0.956000	0.61745	4.015000	0.57152	2.573000	0.86826	0.655000	0.94253	GCA	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319476.1		+	ENST00000359114.4	Missense_Mutation	SNP	22 : 38084889 - 38084889 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	542	6
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATTTAGCTGCGATATGTGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	175	178			NA	NA	1		NA											NA				154072575		1937	4152	6089	SO:0001583	missense			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552	91181	91181			29915	protein-coding gene	gene with protein product					NA		Standard	NM_207308	NM_207308	NA	Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1864G>A	1.37:g.154072575C>T	ENSP00000357547:p.Ala622Thr	NA	Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087270.3		-	ENST00000368559.3	Missense_Mutation	SNP	1 : 154072575 - 154072575 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	550	21
NUP98	4928	broad.mit.edu	37	11	3697456	3697456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:3697456T>C	ENST00000324932.7	-	33	5756	c.5336A>G	c.(5335-5337)tAt>tGt	p.Y1779C	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1796					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCCATGGCATAGTCCTCAGG	0.592		NA	T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													91	87	89			NA	NA	11		NA											NA				3697456		2201	4298	6499	SO:0001583	missense			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713	4928	4928			8068	protein-coding gene	gene with protein product		601021	nucleoporin 98kD		NA	9166830	Standard	NM_016320	NM_139131	NA	Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5336A>G	11.37:g.3697456T>C	ENSP00000316032:p.Tyr1779Cys	NA	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410072	0.62399	.	.	ENSG00000110713	ENST00000324932;ENST00000355260	.	.	.	5.65	5.65	0.86999	.	0.218936	0.33144	N	0.005228	T	0.75436	0.3849	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75374	-0.3340	9	0.44086	T	0.13	-11.2226	14.719	0.69291	0.0:0.0:0.0:1.0	.	1705;1779;1693	P52948-2;P52948-5;P52948-6	.;.;.	C	1779;1705	.	ENSP00000316032:Y1779C	Y	-	2	0	NUP98	3654032	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.619000	0.83057	2.161000	0.67846	0.454000	0.30748	TAT	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032766.3		-	ENST00000324932.7	Missense_Mutation	SNP	11 : 3697456 - 3697456 C PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	437	15
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	259	244	249		701	1.3	0	1	dbSNP_134	249	0,8600		0,0,4300	no	missense	OR2M5	NM_001004690.1	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	234/313	248309150	1,13005	2203	4300	6503	SO:0001583	missense				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727	127059	127059		GPCR / Class A : Olfactory receptors	19576	protein-coding gene	gene with protein product				OR2M5P	NA		Standard	NM_001004690	NM_001004690	NA	Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.701G>A	1.37:g.248309150G>A	ENSP00000355432:p.Arg234His	NA		37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097343.1		+	ENST00000366476.1	Missense_Mutation	SNP	1 : 248309150 - 248309150 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	1002	27
OR5D13	390142	broad.mit.edu	37	11	55541693	55541693	+	Silent	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:55541693T>C	ENST00000361760.1	+	1	780	c.780T>C	c.(778-780)ctT>ctC	p.L260L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCTTTTCCTTTACTGTGTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	99	107			NA	NA	11		NA											NA				55541693		2200	4296	6496	SO:0001819	synonymous_variant			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877	390142	390142		GPCR / Class A : Olfactory receptors	15280	protein-coding gene	gene with protein product					NA		Standard	NM_001001967	NM_001001967	NA	Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.780T>C	11.37:g.55541693T>C		NA	Q6IF68|Q6IFC9	37	CCDS31507.1																																																																																			OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391511.1		+	ENST00000361760.1	Silent	SNP	11 : 55541693 - 55541693 C PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	325	4
OTP	23440	broad.mit.edu	37	5	76932865	76932865	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:76932865G>A	ENST00000306422.3	-	2	1366	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGTCTTTGGCGCTCACCGCCA	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	35	33			NA	NA	5		NA											NA				76932865		2201	4296	6497	SO:0001819	synonymous_variant				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540	23440	23440		Homeoboxes / PRD class	8518	protein-coding gene	gene with protein product		604529	orthopedia homolog (Drosophila)		NA	10458915	Standard		NM_032109	NA	Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.228C>T	5.37:g.76932865G>A		NA		37	CCDS4039.1																																																																																			OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000220016.2		-	ENST00000306422.3	Silent	SNP	5 : 76932865 - 76932865 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	260	8
PDCD4	27250	broad.mit.edu	37	10	112641004	112641004	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:112641004A>T	ENST00000280154.7	+	3	331	c.57A>T	c.(55-57)ttA>ttT	p.L19F	PDCD4_ENST00000393104.2_Missense_Mutation_p.L8F	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	19					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGATAACTTAAGTGACTCTC	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(115;1498 1603 9363 40056 40885)							NA				0													61	71	68			NA	NA	10		NA											NA				112641004		2203	4300	6503	SO:0001583	missense			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593	27250	27250			8763	protein-coding gene	gene with protein product	nuclear antigen H731	608610			NA	9759869	Standard	NM_014456	NM_014456	NA	Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.57A>T	10.37:g.112641004A>T	ENSP00000280154:p.Leu19Phe	NA	O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153586	0.57259	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40756	1.02;1.12	5.42	4.29	0.51040	.	0.071705	0.56097	D	0.000024	T	0.35422	0.0931	N	0.20685	0.6	0.51233	D	0.999912	D;P	0.65815	0.995;0.845	P;B	0.56278	0.795;0.261	T	0.13415	-1.0510	10	0.10377	T	0.69	-8.0641	8.1263	0.31001	0.7861:0.0:0.2139:0.0	.	19;8	Q53EL6;B5ME91	PDCD4_HUMAN;.	F	19;8	ENSP00000280154:L19F;ENSP00000376816:L8F	ENSP00000280154:L19F	L	+	3	2	PDCD4	112630994	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.052000	0.30429	1.002000	0.39104	-0.334000	0.08254	TTA	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050361.1		+	ENST00000280154.7	Missense_Mutation	SNP	10 : 112641004 - 112641004 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	342	6
PHACTR4	65979	broad.mit.edu	37	1	28792265	28792265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:28792265C>T	ENST00000373839.3	+	5	602	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	114							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGGGAATGCCAGATCATCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	146	150			NA	NA	1		NA											NA				28792265		1892	4123	6015	SO:0001583	missense			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138	65979	65979		Phosphatase and actin regulators	25793	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 124	608726			NA	11483580, 15107502	Standard	NM_023923	NM_023923	NA	Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.341C>T	1.37:g.28792265C>T	ENSP00000362945:p.Ala114Val	NA	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155841	0.09236	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.34275	1.37;1.37	5.03	4.1	0.47936	.	1.184050	0.06004	N	0.648230	T	0.29423	0.0733	L	0.27053	0.805	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.003	T	0.19582	-1.0301	10	0.30854	T	0.27	0.1306	10.8568	0.46804	0.0:0.9105:0.0:0.0895	.	124;114;98	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	V	114;124;113	ENSP00000362945:A114V;ENSP00000362942:A124V	ENSP00000362942:A124V	A	+	2	0	PHACTR4	28664852	0.004000	0.15560	0.013000	0.15412	0.029000	0.11900	1.972000	0.40540	1.315000	0.45114	0.655000	0.94253	GCC	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009868.4		+	ENST00000373839.3	Missense_Mutation	SNP	1 : 28792265 - 28792265 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	423	5
POU2F3	25833	broad.mit.edu	37	11	120175780	120175780	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:120175780C>A	ENST00000260264.4	+	7	526	c.492C>A	c.(490-492)ccC>ccA	p.P164P	POU2F3_ENST00000543440.2_Silent_p.P162P	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	162					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTTTAGAACCCCACCTGGAAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	70	69			NA	NA	11		NA											NA				120175780		2203	4299	6502	SO:0001819	synonymous_variant			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709	25833	25833		Homeoboxes / POU class	19864	protein-coding gene	gene with protein product		607394	POU domain class 2, transcription factor 3		NA	10473598	Standard		NM_014352	NA	Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000260264.4:c.492C>A	11.37:g.120175780C>A		NA	A8K7H8|Q3MIY3|Q9UKR7|Q9Y504	37	CCDS58190.1																																																																																			POU2F3-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000470345.1		+	ENST00000260264.4	Silent	SNP	11 : 120175780 - 120175780 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	488	6
PRUNE2	158471	broad.mit.edu	37	9	79320990	79320990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:79320990G>A	ENST00000376718.3	-	8	6323	c.6200C>T	c.(6199-6201)gCg>gTg	p.A2067V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1708V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2067					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGTCAGGCGCGGCAGAGGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,3136		0,0,1568	136	128	131		6200	3.9	0	9		131	1,7163		0,1,3581	no	missense	PRUNE2	NM_015225.2	64	0,1,5149	AA,AG,GG	NA	0.014,0.0,0.0097	benign	2067/3089	79320990	1,10299	1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6200C>T	9.37:g.79320990G>A	ENSP00000365908:p.Ala2067Val	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313854	0.05422	0.0	1.4E-4	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.42131	0.98;0.98	6.03	3.94	0.45596	.	0.708846	0.12837	N	0.435169	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.27606	-1.0069	10	0.05959	T	0.93	-5.9616	6.8158	0.23829	0.0987:0.0:0.5223:0.379	.	2067	Q8WUY3	PRUN2_HUMAN	V	2067;1708;2066	ENSP00000365908:A2067V;ENSP00000397425:A1708V	ENSP00000365908:A2067V	A	-	2	0	PRUNE2	78510810	0.011000	0.17503	0.005000	0.12908	0.012000	0.07955	1.895000	0.39778	1.500000	0.48636	0.655000	0.94253	GCG	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79320990 - 79320990 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	628	7
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:43411250G>A	ENST00000402603.4	-	4	874	c.785C>T	c.(784-786)gCg>gTg	p.A262V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V					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)				GTTAGAGTCCGCAAAGCAGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	196	192			NA	NA	19		NA											NA				43411250		2201	4299	6500	SO:0001583	missense				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.785C>T	19.37:g.43411250G>A	ENSP00000385736:p.Ala262Val	NA		37		.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG	PSG6-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321437.2		-	ENST00000402603.4	Missense_Mutation	SNP	19 : 43411250 - 43411250 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	1172	8
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352	5710	5710		Proteasome (prosome, macropain) subunits	9561	protein-coding gene	gene with protein product		601648			NA	8641424	Standard	NM_002810	XM_005245354	NA	Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His	NA	D3DV16|Q5VWC5|Q9NS92	37	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034409.3		+	ENST00000368884.3	Missense_Mutation	SNP	1 : 151238835 - 151238835 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	522	5
PTPRU	10076	broad.mit.edu	37	1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	rs146215972		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630460C>T	ENST00000373779.3	+	16	2699	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	46	50	49		2570,2600,2570,2570	4.1	1	1	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense,missense,missense	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	81,81,81,81	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	857/1434,867/1447,857/1441,857/1437	29630460	1,13005	2203	4300	6503	SO:0001583	missense			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.2570C>T	1.37:g.29630460C>T	ENSP00000362884:p.Thr857Met	NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647094	0.87958	2.27E-4	0.0	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35973	1.33;1.34;1.34;1.34;1.28;1.34	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.57536	1.79	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;P	0.66351	0.943;0.943;0.943;0.879;0.868	T	0.52079	-0.8623	9	.	.	.	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	857;857;857;857;867	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	867;857;857;857;857;857	ENSP00000334941:T867M;ENSP00000362884:T857M;ENSP00000349333:T857M;ENSP00000314987:T857M;ENSP00000392332:T857M;ENSP00000432906:T857M	.	T	+	2	0	PTPRU	29503047	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.535000	0.82014	2.592000	0.87571	0.561000	0.74099	ACG	PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Missense_Mutation	SNP	1 : 29630460 - 29630460 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	410	6
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	G	A	rs145675393		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630479G>A	ENST00000373779.3	+	16	2718	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000323874.8_Silent_p.A863A	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	1		NA											NA				29630479		2203	4300	6503	SO:0001819	synonymous_variant			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.2589G>A	1.37:g.29630479G>A		NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1																																																																																			PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Silent	SNP	1 : 29630479 - 29630479 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	426	6
RBM15B	29890	broad.mit.edu	37	3	51430415	51430415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:51430415C>T	ENST00000323686.4	+	1	1685	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	529					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGACCTGGTGCGGGACAGGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	48			NA	NA	3		NA											NA				51430415		2203	4300	6503	SO:0001583	missense			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956	29890	29890		RNA binding motif (RRM) containing	24303	protein-coding gene	gene with protein product		612602			NA	16129689	Standard	NM_013286	NM_013286	NA	Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1585C>T	3.37:g.51430415C>T	ENSP00000313890:p.Arg529Trp	NA	Q6QE19|Q9BV96	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846050	0.51164	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.18174	2.23	5.55	4.67	0.58626	.	.	.	.	.	T	0.37348	0.1000	L	0.57536	1.79	0.50313	D	0.999868	D	0.89917	1.0	D	0.77004	0.989	T	0.14924	-1.0455	9	0.87932	D	0	-16.0835	13.3329	0.60500	0.4055:0.5945:0.0:0.0	.	529	Q8NDT2	RB15B_HUMAN	W	529;202	ENSP00000313890:R529W	ENSP00000313890:R529W	R	+	1	2	RBM15B	51405455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.873000	0.28052	1.329000	0.45376	0.655000	0.94253	CGG	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346489.1		+	ENST00000323686.4	Missense_Mutation	SNP	3 : 51430415 - 51430415 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	457	5
ROR1	4919	broad.mit.edu	37	1	64643702	64643702	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:64643702C>T	ENST00000371079.1	+	9	2353	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	ROR1_ENST00000545203.1_Missense_Mutation_p.P111S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	660	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCGCTGGATGCCCCCTGAAGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	1		NA											NA				64643702		2203	4300	6503	SO:0001583	missense			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483	4919	4919		Immunoglobulin superfamily / I-set domain containing	10256	protein-coding gene	gene with protein product		602336		NTRKR1	NA	1334494, 8875995	Standard	NM_005012	NM_001083592	NA	Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1978C>T	1.37:g.64643702C>T	ENSP00000360120:p.Pro660Ser	NA	Q5VVX6|Q92776	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320339	0.23994	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.60299	0.2;0.2	5.98	3.07	0.35406	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42821	D	0.000655	T	0.19765	0.0475	N	0.11560	0.145	0.80722	D	1	P	0.34934	0.476	B	0.37508	0.252	T	0.05007	-1.0912	10	0.30078	T	0.28	.	9.0314	0.36260	0.0:0.7449:0.1228:0.1323	.	660	Q01973	ROR1_HUMAN	S	660;663;111	ENSP00000360120:P660S;ENSP00000441637:P111S	ENSP00000360120:P660S	P	+	1	0	ROR1	64416290	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	2.673000	0.46858	0.405000	0.25532	0.591000	0.81541	CCC	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025002.1		+	ENST00000371079.1	Missense_Mutation	SNP	1 : 64643702 - 64643702 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	426	5
SASS6	163786	broad.mit.edu	37	1	100573235	100573235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100573235T>G	ENST00000287482.5	-	10	1235	c.1095A>C	c.(1093-1095)caA>caC	p.Q365H	SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	365					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GCTTTCCTAGTTGTACTTGAT	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	47	46			NA	NA	1		NA											NA				100573235		2200	4288	6488	SO:0001583	missense			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876	163786	163786			25403	protein-coding gene	gene with protein product		609321			NA	15665853, 14654843	Standard	NM_194292	NM_194292	NA	Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1095A>C	1.37:g.100573235T>G	ENSP00000287482:p.Gln365His	NA	D3DT55|Q8N3K0	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250271	0.39797	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.78595	-1.19;-1.19	5.86	-2.04	0.07343	.	0.097898	0.64402	D	0.000001	T	0.51363	0.1670	L	0.49350	1.555	0.39686	D	0.970979	B	0.25272	0.122	B	0.26094	0.066	T	0.37267	-0.9713	10	0.34782	T	0.22	-17.8258	8.944	0.35747	0.1162:0.4925:0.0:0.3913	.	365	Q6UVJ0	SAS6_HUMAN	H	365;338;198	ENSP00000287482:Q365H;ENSP00000440169:Q198H	ENSP00000287482:Q365H	Q	-	3	2	SASS6	100345823	0.975000	0.34042	0.975000	0.42487	0.990000	0.78478	0.142000	0.16096	-0.327000	0.08551	0.477000	0.44152	CAA	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029656.2		-	ENST00000287482.5	Missense_Mutation	SNP	1 : 100573235 - 100573235 G PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	151	7
SLC25A22	79751	broad.mit.edu	37	11	792328	792328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:792328C>T	ENST00000320230.5	-	8	1199	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	240						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACGGCCACAGCGGCGGCACTC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(93;848 1468 3270 23355 49636)							NA				0													50	60	57			NA	NA	11		NA											NA				792328		2203	4297	6500	SO:0001583	missense			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542	79751	79751		Solute carriers	19954	protein-coding gene	gene with protein product		609302			NA	11897791	Standard		NM_024698	NA	Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.718G>A	11.37:g.792328C>T	ENSP00000322020:p.Ala240Thr	NA	A8K366|Q8TBU8	37	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962796	0.53507	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78595	-1.19;-1.19	3.8	2.88	0.33553	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	L	0.38953	1.18	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.76345	-0.2993	10	0.31617	T	0.26	-17.7338	11.5497	0.50713	0.0:0.9115:0.0:0.0885	.	240	Q9H936	GHC1_HUMAN	T	240	ENSP00000322020:A240T;ENSP00000437236:A240T	ENSP00000322020:A240T	A	-	1	0	SLC25A22	782328	1.000000	0.71417	0.020000	0.16555	0.002000	0.02628	5.614000	0.67695	0.959000	0.37980	-0.199000	0.12753	GCT	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257107.2		-	ENST00000320230.5	Missense_Mutation	SNP	11 : 792328 - 792328 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	778	20
SLC32A1	140679	broad.mit.edu	37	20	37356192	37356192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:37356192G>A	ENST00000217420.1	+	2	751	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	163					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCTACACCGGCAAGATCCTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	64	69			NA	NA	20		NA											NA				37356192		2203	4300	6503	SO:0001583	missense			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438	140679	140679		Solute carriers	11018	protein-coding gene	gene with protein product			vesicular inhibitory amino acid transporter	VIAAT	NA	19843525	Standard	NM_080552	NM_080552	NA	Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.488G>A	20.37:g.37356192G>A	ENSP00000217420:p.Gly163Asp	NA	Q8N489	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208888	0.79240	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	M	0.81112	2.525	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.00406	-1.1759	10	0.51188	T	0.08	-22.1911	14.5807	0.68288	0.0:0.0:1.0:0.0	.	163	Q9H598	VIAAT_HUMAN	D	163	ENSP00000217420:G163D	ENSP00000217420:G163D	G	+	2	0	SLC32A1	36789606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.631000	0.98424	2.317000	0.78254	0.563000	0.77884	GGC	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079206.1		+	ENST00000217420.1	Missense_Mutation	SNP	20 : 37356192 - 37356192 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	401	5
SLC34A2	10568	broad.mit.edu	37	4	25674740	25674740	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:25674740G>A	ENST00000382051.3	+	10	1130	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	360					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCACCTCCCGGATCTTGCTG	0.512		NA	T	ROS1	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0													204	181	189			NA	NA	4		NA											NA				25674740		2203	4300	6503	SO:0001819	synonymous_variant			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765	10568	10568		Solute carriers	11020	protein-coding gene	gene with protein product		604217	solute carrier family 34 (sodium phosphate), member 2		NA	10329428, 10610722	Standard	NM_006424	NM_006424	NA	Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1080G>A	4.37:g.25674740G>A		NA	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	37	CCDS3435.1																																																																																			SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214990.1		+	ENST00000382051.3	Silent	SNP	4 : 25674740 - 25674740 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	561	18
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	131	140	137		1831	6	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930	353189	353189		Solute carriers	23612	protein-coding gene	gene with protein product		609013			NA		Standard	NM_180991	NM_180991	NA	Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp	NA	Q86UG5	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370332.1		-	ENST00000310954.6	Missense_Mutation	SNP	5 : 101576467 - 101576467 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	630	11
SNAP47	116841	broad.mit.edu	37	1	227947156	227947156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:227947156G>A	ENST00000366759.4	+	3	1507	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T|SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	365						endomembrane system|membrane|perinuclear region of cytoplasm		p.A365T(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTTCCCCCGCAGAGAAGAG	0.517		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	5e-04	0.0013	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)						G	THR/ALA	0,4406		0,0,2203	115	118	117		1093	1.1	0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAP47	NM_053052.3	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	365/465	227947156	1,13005	2203	4300	6503	SO:0001583	missense			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740	116841	116841			30669	protein-coding gene	gene with protein product			chromosome 1 open reading frame 142	C1orf142	NA	16621800	Standard	NM_053052	NM_053052	NA	Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1093G>A	1.37:g.227947156G>A	ENSP00000355721:p.Ala365Thr	NA	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	37	CCDS1562.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.504|5.504	0.277926|0.277926	0.10403|0.10403	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781|ENST00000418653;ENST00000426344	T;T;T|.	0.45668|.	0.89;2.2;2.18|.	5.04|5.04	1.08|1.08	0.20341|0.20341	.|.	0.734758|.	0.13883|.	N|.	0.356219|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.33379|.	0.001;0.196;0.41;0.41;0.196|.	B;B;B;B;B|.	0.25140|.	0.005;0.008;0.058;0.049;0.011|.	T|T	0.35724|0.35724	-0.9777|-0.9777	10|5	0.14656|.	T|.	0.56|.	-15.4879|-15.4879	7.4981|7.4981	0.27500|0.27500	0.445:0.0:0.555:0.0|0.445:0.0:0.555:0.0	.|.	123;365;177;365;123|.	Q5SQN1-3;Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4|.	.;SNP47_HUMAN;.;.;.|.	T|H	123;365;365|177;356	ENSP00000355722:A123T;ENSP00000355721:A365T;ENSP00000314157:A365T|.	ENSP00000314157:A365T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226013779|226013779	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	0.327000|0.327000	0.19663|0.19663	0.045000|0.045000	0.15804|0.15804	0.561000|0.561000	0.74099|0.74099	GCA|CGC	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091961.1		+	ENST00000366759.4	Missense_Mutation	SNP	1 : 227947156 - 227947156 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	749	6
TAS2R1	50834	broad.mit.edu	37	5	9629467	9629467	+	Silent	SNP	C	C	T	rs140696180		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	67	75	72		678	-11.1	0	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R1	NM_019599.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		226/300	9629467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777	50834	50834		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	14909	protein-coding gene	gene with protein product		604796			NA	10761934, 10766242	Standard		NM_019599	NA	Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.678G>A	5.37:g.9629467C>T		NA	Q646G8	37	CCDS3876.1																																																																																			TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206988.2		-	ENST00000382492.2	Silent	SNP	5 : 9629467 - 9629467 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	299	8
TECTA	7007	broad.mit.edu	37	11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:121016448G>A	ENST00000478058.1	+	0	293				TECTA_ENST00000392793.1_Missense_Mutation_p.R1243H|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H			O75443	TECTA_HUMAN	tectorin alpha	NA					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1243H(1)	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)		CTGTGTGGCCGCTACAACGGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	151	122	132		3728	4.8	1	11		132	0,8598		0,0,4299	no	missense	TECTA	NM_005422.2	29	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	1243/2156	121016448	1,13003	2203	4299	6502	SO:0001624	3_prime_UTR_variant			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	ENST00000478058.1:c.*290G>A	11.37:g.121016448G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	19.20	3.782117	0.70222	2.27E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59772	0.24;0.24	5.76	4.85	0.62838	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000005	T	0.55016	0.1894	L	0.36672	1.1	0.33742	D	0.619606	D	0.56287	0.975	P	0.50270	0.636	T	0.67632	-0.5621	10	0.59425	D	0.04	.	11.5134	0.50507	0.137:0.0:0.863:0.0	.	1243	O75443	TECTA_HUMAN	H	1243	ENSP00000376543:R1243H;ENSP00000264037:R1243H	ENSP00000264037:R1243H	R	+	2	0	TECTA	120521658	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.363000	0.44178	2.721000	0.93114	0.591000	0.81541	CGC	TECTA-003	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000313852.1		+	ENST00000478058.1	3'UTR	SNP	11 : 121016448 - 121016448 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	390	9
TLN2	83660	broad.mit.edu	37	15	63053934	63053934	+	Missense_Mutation	SNP	G	G	A	rs143603462	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:63053934G>A	ENST00000472902.1	+	0	125				TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T|TLN2_ENST00000561311.1_Missense_Mutation_p.A1565T			Q9Y4G6	TLN2_HUMAN	talin 2	NA					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CATCGCCACCGCACCCTTGAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	175	152	160		4693	3.5	0.2	15	dbSNP_134	160	2,8598	2.2+/-6.3	0,2,4298	no	missense	TLN2	NM_015059.2	58	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	1565/2543	63053934	2,13004	2203	4300	6503	SO:0001623	5_prime_UTR_variant			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000472902.1:c.-129G>A	15.37:g.63053934G>A		NA	A6NLB8	37		.	.	.	.	.	.	.	.	.	.	G	4.423	0.078267	0.08485	0.0	2.33E-4	ENSG00000171914	ENST00000306829	T	0.68624	-0.34	5.41	3.52	0.40303	.	0.314633	0.39274	N	0.001410	T	0.47229	0.1434	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23404	-1.0189	10	0.15499	T	0.54	-9.4852	6.1601	0.20360	0.1566:0.0:0.6934:0.15	.	1565	Q9Y4G6	TLN2_HUMAN	T	1565	ENSP00000303476:A1565T	ENSP00000303476:A1565T	A	+	1	0	TLN2	60841226	0.609000	0.26975	0.181000	0.23098	0.039000	0.13416	1.968000	0.40500	0.641000	0.30601	0.563000	0.77884	GCA	TLN2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257880.2		+	ENST00000472902.1	5'UTR	SNP	15 : 63053934 - 63053934 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	601	6
TNXB	7148	broad.mit.edu	37	6	32064921	32064921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:32064921C>T	ENST00000479795.1	-	3	849	c.709G>A	c.(709-711)Gca>Aca	p.A237T	TNXB_ENST00000375244.3_Missense_Mutation_p.A237T|TNXB_ENST00000375247.2_Missense_Mutation_p.A237T			P22105	TENX_HUMAN	tenascin XB	237	EGF-like 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAAGCCTGCCCGGCACACA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	6		NA											NA				32064921		2145	4231	6376	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.709G>A	6.37:g.32064921C>T	ENSP00000418248:p.Ala237Thr	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	C	0.442	-0.898065	0.02472	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11277	3.88;3.88;2.79	4.22	0.161	0.14977	.	0.689881	0.12572	N	0.457242	T	0.02047	0.0064	L	0.31294	0.92	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.44528	-0.9322	10	0.44086	T	0.13	.	4.2281	0.10590	0.154:0.3014:0.452:0.0926	.	237	P22105-3	.	T	237	ENSP00000364393:A237T;ENSP00000364396:A237T;ENSP00000418248:A237T	ENSP00000364393:A237T	A	-	1	0	TNXB	32172899	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.163000	0.09997	-0.190000	0.10465	0.655000	0.94253	GCA	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357059.1		-	ENST00000479795.1	Missense_Mutation	SNP	6 : 32064921 - 32064921 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	85	4
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125			NA	NA	17		NA											NA				7577539		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.742C>T	17.37:g.7577539G>A	ENSP00000391127:p.Arg248Trp	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577539 - 7577539 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	313	11
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCATAGGGACCTATGGCCAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	149	151			NA	NA	11		NA											NA				88911586		2201	4299	6500	SO:0001819	synonymous_variant			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	7299	7299	1.14.18.1		12442	protein-coding gene	gene with protein product	oculocutaneous albinism IA	606933			NA		Standard	NM_000372	NM_000372	NA	Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.465C>A	11.37:g.88911586C>A		NA	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	37	CCDS8284.1																																																																																			TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394045.2		+	ENST00000263321.5	Silent	SNP	11 : 88911586 - 88911586 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	627	24
USP2	9099	broad.mit.edu	37	11	119243920	119243920	+	Missense_Mutation	SNP	G	G	A	rs146943763	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:119243920G>A	ENST00000260187.2	-	2	565	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	91	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTCTCTGCCCGCTTACCACCC	0.652		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0													63	71	69			NA	NA	11		NA											NA				119243920		2199	4295	6494	SO:0001583	missense			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672	9099	9099		Ubiquitin-specific peptidases	12618	protein-coding gene	gene with protein product		604725	ubiquitin specific protease 2		NA	12838346	Standard	NM_171997	NM_004205	NA	Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.271C>T	11.37:g.119243920G>A	ENSP00000260187:p.Arg91Trp	NA	B0YJB8|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	37	CCDS8422.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.95	1.495124	0.26774	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.24538	1.85	5.37	3.3	0.37823	.	2.634020	0.01228	N	0.008277	T	0.23572	0.0570	L	0.27053	0.805	0.39645	D	0.970387	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.56958	D	0.05	-5.9847	9.6628	0.39965	0.0813:0.0:0.7696:0.1491	.	91	O75604	UBP2_HUMAN	W	91;61;91;91	ENSP00000260187:R91W	ENSP00000260187:R91W	R	-	1	2	USP2	118749130	0.941000	0.31946	0.996000	0.52242	0.734000	0.41952	2.168000	0.42424	1.262000	0.44165	-0.254000	0.11334	CGG	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388361.2		-	ENST00000260187.2	Missense_Mutation	SNP	11 : 119243920 - 119243920 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	727	6
ZNF645	158506	broad.mit.edu	37	X	22292036	22292036	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:22292036C>T	ENST00000323684.1	+	1	972	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	310	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TAACTCGGTTCGTAGCCAAGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	104	115			NA	NA	X		NA											NA				22292036		2203	4300	6503	SO:0001583	missense			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809	158506	158506			26371	protein-coding gene	gene with protein product					NA		Standard	NM_152577	NM_152577	NA	Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.928C>T	X.37:g.22292036C>T	ENSP00000323348:p.Arg310Cys	NA	A0AV29|A0AV31|Q6DJY9	37	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684388	0.14907	.	.	ENSG00000175809	ENST00000323684	T	0.30448	1.53	2.42	-0.0632	0.13778	.	3.358530	0.02026	N	0.048193	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.56958	D	0.05	.	5.4112	0.16349	0.0:0.3033:0.0:0.6967	.	310	Q8N7E2	ZN645_HUMAN	C	310	ENSP00000323348:R310C	ENSP00000323348:R310C	R	+	1	0	ZNF645	22201957	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.443000	0.52907	-0.088000	0.12506	-0.296000	0.09543	CGT	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056037.1		+	ENST00000323684.1	Missense_Mutation	SNP	X : 22292036 - 22292036 T PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	380	12
ZP4	57829	broad.mit.edu	37	1	238050775	238050775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:238050775G>A	ENST00000366570.4	-	5	798	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	214	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGCCAAGCGCACAGAATCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(166;160 2029 11600 18754 19936)							NA				0													160	146	151			NA	NA	1		NA											NA				238050775		2203	4300	6503	SO:0001583	missense			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996	57829	57829		Zona pellucida glycoproteins	15770	protein-coding gene	gene with protein product		613514			NA	7841460	Standard		NM_021186	NA	Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.640C>T	1.37:g.238050775G>A	ENSP00000355529:p.Arg214Cys	NA	B2RAE1	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827119	0.32329	.	.	ENSG00000116996	ENST00000366570	D	0.83163	-1.69	4.86	1.91	0.25777	Zona pellucida sperm-binding protein (3);	0.389295	0.28031	N	0.016872	D	0.88194	0.6371	M	0.79805	2.47	0.09310	N	1	D	0.71674	0.998	P	0.61722	0.893	T	0.80106	-0.1521	10	0.87932	D	0	-5.2811	8.9227	0.35621	0.2535:0.0:0.7465:0.0	.	214	Q12836	ZP4_HUMAN	C	214	ENSP00000355529:R214C	ENSP00000355529:R214C	R	-	1	0	ZP4	236117398	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	0.601000	0.24119	0.196000	0.20367	0.655000	0.94253	CGC	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095476.1		-	ENST00000366570.4	Missense_Mutation	SNP	1 : 238050775 - 238050775 A PAAD-TCGA-IB-A5ST-Tumor-SM-4WPAP	408	6
