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
AL021546.6	0	broad.mit.edu	37	12	120876314	120876314	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:120876314T>G	ENST00000551806.1	+	2	165	c.165T>G	c.(163-165)caT>caG	p.H55Q	COX6A1_ENST00000229379.2_Missense_Mutation_p.I79S						NA											NA						CATCTCCGCATCAGGACCAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	105	110			NA	NA	12		NA											NA				120876314		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000551806.1:c.165T>G	12.37:g.120876314T>G	ENSP00000450281:p.His55Gln	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.2|27.2	4.807742|4.807742	0.90623|0.90623	.|.	.|.	ENSG00000111780|ENSG00000111775	ENST00000551806|ENST00000229379	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Cytochrome c oxidase, subunit VIa, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79522|0.79522	0.4460|0.4460	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	.|D	.|0.55385	.|0.971	.|D	.|0.64877	.|0.93	T|T	0.83227|0.83227	-0.0065|-0.0065	5|9	.|0.87932	.|D	.|0	-22.4471|-22.4471	15.2512|15.2512	0.73549|0.73549	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|79	.|P12074	.|CX6A1_HUMAN	Q|S	55|79	.|.	.|ENSP00000229379:I79S	H|I	+|+	3|2	2|0	GATC|COX6A1	119360697|119360697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.119000|7.119000	0.77145|0.77145	2.057000|2.057000	0.61298|0.61298	0.533000|0.533000	0.62120|0.62120	CAT|ATC	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403635.1		+	ENST00000551806.1	Missense_Mutation	SNP	12 : 120876314 - 120876314 G PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	582	10
APOB	338	broad.mit.edu	37	2	21251239	21251239	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:21251239T>C	ENST00000233242.1	-	13	1916	c.1789A>G	c.(1789-1791)Att>Gtt	p.I597V	APOB_ENST00000399256.4_Missense_Mutation_p.I597V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	597	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTGGCAATATGGGAAGCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	101			NA	NA	2		NA											NA				21251239		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1789A>G	2.37:g.21251239T>C	ENSP00000233242:p.Ile597Val	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558392	0.45590	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.57436	0.4;0.4	5.69	3.17	0.36434	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.352961	0.27764	N	0.017944	T	0.47229	0.1434	L	0.56769	1.78	0.36909	D	0.890822	P	0.42908	0.793	B	0.38655	0.278	T	0.57757	-0.7756	10	0.42905	T	0.14	.	12.4341	0.55590	0.0:0.0:0.2866:0.7134	.	597	P04114	APOB_HUMAN	V	597	ENSP00000233242:I597V;ENSP00000382200:I597V	ENSP00000233242:I597V	I	-	1	0	APOB	21104744	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.596000	0.24044	1.098000	0.41479	0.533000	0.62120	ATT	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21251239 - 21251239 C PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	399	20
CA10	56934	broad.mit.edu	37	17	50008436	50008436	+	Translation_Start_Site	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:50008436G>A	ENST00000285273.4	-	4	1304	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	CA10_ENST00000442502.2_Missense_Mutation_p.R65W|CA10_ENST00000570565.1_De_novo_Start_OutOfFrame|CA10_ENST00000451037.2_Missense_Mutation_p.R65W|CA10_ENST00000340813.6_Missense_Mutation_p.R71W	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	65					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGCGACTGCCGTTTCCCCACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	187	192			NA	NA	17		NA											NA				50008436		2203	4300	6503	SO:0001583	missense			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975	56934	56934		Carbonic anhydrases	1369	protein-coding gene	gene with protein product		604642			NA	8673298, 9921901	Standard	NM_020178	NM_020178	NA	Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.193C>T	17.37:g.50008436G>A	ENSP00000285273:p.Arg65Trp	NA	B2R7J0	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725381	0.89298	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.93	4.93	0.64822	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.84875	0.5569	M	0.86502	2.82	0.46061	D	0.998844	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.86086	0.1547	9	.	.	.	.	13.5205	0.61566	0.0:0.0:0.6936:0.3064	.	65;71	Q9NS85;Q68D28	CAH10_HUMAN;.	W	65;65;65;71	ENSP00000390666:R65W;ENSP00000285273:R65W;ENSP00000405388:R65W;ENSP00000340363:R71W	.	R	-	1	2	CA10	47363435	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.008000	0.57103	2.826000	0.97356	0.655000	0.94253	CGG	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437480.1		-	ENST00000285273.4	Missense_Mutation	SNP	17 : 50008436 - 50008436 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	677	21
CCDC60	160777	broad.mit.edu	37	12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:119773039C>T	ENST00000327554.2	+	1	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CCDC60_ENST00000536742.1_Missense_Mutation_p.R20W|CCDC60_ENST00000539847.1_Missense_Mutation_p.R20W|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	77	74			NA	NA	12		NA											NA				119773039		2203	4300	6503	SO:0001583	missense			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273	160777	160777			28610	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178499	NM_178499	NA	Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.58C>T	12.37:g.119773039C>T	ENSP00000333374:p.Arg20Trp	NA		37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	6.197	0.404573	0.11754	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.48836	0.8;1.83;0.95	4.42	-3.66	0.04489	.	1.591660	0.03532	N	0.222527	T	0.17492	0.0420	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09773	-1.0659	9	.	.	.	0.016	3.2878	0.06937	0.3849:0.3158:0.0:0.2993	.	20	Q8IWA6	CCD60_HUMAN	W	20	ENSP00000445505:R20W;ENSP00000333374:R20W;ENSP00000443403:R20W	.	R	+	1	2	CCDC60	118257422	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.894000	0.04123	-0.330000	0.08514	-0.377000	0.06932	CGG	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401680.1		+	ENST00000327554.2	Missense_Mutation	SNP	12 : 119773039 - 119773039 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	354	11
CCDC87	55231	broad.mit.edu	37	11	66360267	66360267	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:66360267C>T	ENST00000333861.3	-	1	287	c.220G>A	c.(220-222)Gga>Aga	p.G74R		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	74										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAGGCACTCCCGCTGCTATC	0.657		NA									OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	11		NA											NA				66360267		2200	4293	6493	SO:0001583	missense			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791	55231	55231			25579	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018219	NM_018219	NA	Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.220G>A	11.37:g.66360267C>T	ENSP00000328487:p.Gly74Arg	1091	Q8NE76	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	4.935	0.173708	0.09391	.	.	ENSG00000182791	ENST00000333861	T	0.27890	1.64	5.39	2.33	0.28932	.	1.311630	0.05373	N	0.535892	T	0.08492	0.0211	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	10	0.11485	T	0.65	-0.9844	8.4993	0.33148	0.0872:0.4903:0.4226:0.0	.	74	Q9NVE4	CCD87_HUMAN	R	74	ENSP00000328487:G74R	ENSP00000328487:G74R	G	-	1	0	CCDC87	66116843	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.494000	0.35616	0.405000	0.25532	-0.120000	0.15030	GGA	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393825.1		-	ENST00000333861.3	Missense_Mutation	SNP	11 : 66360267 - 66360267 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	256	11
CHD5	26038	broad.mit.edu	37	1	6202252	6202252	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:6202252C>T	ENST00000262450.3	-	15	2471	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	791	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCGTTCTCCCGAATCACCGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	144	147			NA	NA	1		NA											NA				6202252		2203	4300	6503	SO:0001583	missense			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254	26038	26038		Zinc fingers, PHD-type	16816	protein-coding gene	gene with protein product		610771			NA	11889561, 12592387	Standard	NM_015557	NM_015557	NA	Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2372G>A	1.37:g.6202252C>T	ENSP00000262450:p.Arg791Gln	NA	O75032|Q5TG89|Q7LGH2|Q9UFR9	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152028	0.94645	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93712	-3.27	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.076633	0.49305	D	0.000151	D	0.95475	0.8530	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.94752	0.7928	10	0.35671	T	0.21	-22.1812	16.6218	0.84932	0.0:1.0:0.0:0.0	.	791	Q8TDI0	CHD5_HUMAN	Q	791;307;199;199	ENSP00000262450:R791Q	ENSP00000262450:R791Q	R	-	2	0	CHD5	6124839	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	7.693000	0.84214	1.977000	0.57605	0.561000	0.74099	CGG	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002823.2		-	ENST00000262450.3	Missense_Mutation	SNP	1 : 6202252 - 6202252 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	823	24
CNGA3	1261	broad.mit.edu	37	2	99013339	99013339	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:99013339G>A	ENST00000409937.1	+	8	1859	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	CNGA3_ENST00000436404.2_Missense_Mutation_p.R551H|CNGA3_ENST00000272602.2_Missense_Mutation_p.R569H|CNGA3_ENST00000393504.1_Missense_Mutation_p.R569H			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	569			Y -> C (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCAACATCCGCAGCATTGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM014559	CNGA3	M		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114	110	111		1652,1706	5.4	1	2		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	551/677,569/695	99013339	1,13005	2203	4300	6503	SO:0001583	missense			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191	1261	1261		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2	NA	7532814, 9517456, 16382102	Standard	NM_001298	NM_001298	NA	Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000409937.1:c.1718G>A	2.37:g.99013339G>A	ENSP00000386761:p.Arg573His	NA	Q53RD2|Q9UP64	37		.	.	.	.	.	.	.	.	.	.	G	19.46	3.832457	0.71258	0.0	1.16E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.42	5.42	0.78866	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.988;0.991	D	0.98965	1.0799	10	0.87932	D	0	.	12.1196	0.53883	0.0815:0.0:0.9185:0.0	.	573;551;569	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	H	569;551;569;573	ENSP00000377140:R569H;ENSP00000410070:R551H;ENSP00000272602:R569H;ENSP00000386761:R573H	ENSP00000272602:R569H	R	+	2	0	CNGA3	98379771	0.987000	0.35691	1.000000	0.80357	0.697000	0.40408	4.514000	0.60482	2.826000	0.97356	0.563000	0.77884	CGC	CNGA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329558.1		+	ENST00000409937.1	Missense_Mutation	SNP	2 : 99013339 - 99013339 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	679	31
CTD-3074O7.11	0	broad.mit.edu	37	11	66283170	66283170	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:66283170G>A	ENST00000419755.3	+	6	675	c.597G>A	c.(595-597)acG>acA	p.T199T	BBS1_ENST00000537537.1_Silent_p.T50T|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Silent_p.T162T|BBS1_ENST00000455748.2_Intron|BBS1_ENST00000318312.7_Silent_p.T162T						NA											NA						GCAGGGAGACGGCAGAGGAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	11		NA											NA				66283170		2200	4295	6495	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000419755.3:c.597G>A	11.37:g.66283170G>A		NA		37																																																																																				CTD-3074O7.11-001	KNOWN	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000395848.2		+	ENST00000419755.3	Silent	SNP	11 : 66283170 - 66283170 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	341	9
DCAF12L2	340578	broad.mit.edu	37	X	125299285	125299285	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:125299285G>C	ENST00000360028.2	-	1	649	c.623C>G	c.(622-624)gCt>gGt	p.A208G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A208G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	208										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTCACAGCTACGGTGTC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	X		NA											NA				125299285		2203	4299	6502	SO:0001583	missense			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354	340578	340578		WD repeat domain containing	32950	protein-coding gene	gene with protein product			WD repeat domain 40C	WDR40C	NA		Standard	NM_001013628	NM_001013628	NA	Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.623C>G	X.37:g.125299285G>C	ENSP00000353128:p.Ala208Gly	NA	B2RN42	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543243	0.27563	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.60171	0.21;0.21	3.87	0.855	0.19013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.817806	0.10000	N	0.728605	T	0.56702	0.2003	L	0.51422	1.61	0.30815	N	0.738405	P	0.44659	0.84	P	0.48552	0.581	T	0.57717	-0.7763	10	0.87932	D	0	.	6.7549	0.23507	0.4053:0.0:0.5947:0.0	.	208	Q5VW00	DC122_HUMAN	G	208	ENSP00000441489:A208G;ENSP00000353128:A208G	ENSP00000353128:A208G	A	-	2	0	DCAF12L2	125126966	0.998000	0.40836	0.002000	0.10522	0.010000	0.07245	2.707000	0.47143	0.042000	0.15717	0.544000	0.68410	GCT	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058181.1		-	ENST00000360028.2	Missense_Mutation	SNP	X : 125299285 - 125299285 C PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	360	10
DCBLD2	131566	broad.mit.edu	37	3	98518461	98518461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:98518461G>A	ENST00000326840.6	-	16	2445	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Q709*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	695					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGGAGGGCTGACCAACTGAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	156	156			NA	NA	3		NA											NA				98518461		1954	4159	6113	SO:0001587	stop_gained				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019	131566	131566			24627	protein-coding gene	gene with protein product		608698			NA	11447234	Standard	NM_080927	NM_080927	NA	Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2083C>T	3.37:g.98518461G>A	ENSP00000321573:p.Gln695*	NA	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627228	0.97718	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	.	.	.	5.65	2.79	0.32731	.	0.592892	0.15545	N	0.256738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.2138	1.8248	0.03118	0.1818:0.169:0.4938:0.1554	.	.	.	.	X	695;709	.	ENSP00000321573:Q695X	Q	-	1	0	DCBLD2	100001151	0.025000	0.19082	0.703000	0.30354	0.563000	0.35712	1.076000	0.30729	1.393000	0.46605	0.655000	0.94253	CAG	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324675.2		-	ENST00000326840.6	Nonsense_Mutation	SNP	3 : 98518461 - 98518461 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	462	13
DIP2C	22982	broad.mit.edu	37	10	395301	395301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr10:395301C>T	ENST00000280886.6	-	25	3166	c.3079G>A	c.(3079-3081)Ggc>Agc	p.G1027S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACGTGGTCGCCGTCCTGAAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	70	79			NA	NA	10		NA											NA				395301		2203	4300	6503	SO:0001583	missense			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240	22982	22982			29150	protein-coding gene	gene with protein product		611380	KIAA0934	KIAA0934	NA		Standard	NM_014974	NM_014974	NA	Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3079G>A	10.37:g.395301C>T	ENSP00000280886:p.Gly1027Ser	NA	Q5SS78	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501679	0.85176	.	.	ENSG00000151240	ENST00000280886	T	0.19532	2.14	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59606	-0.7423	10	0.87932	D	0	-23.0966	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1027	Q9Y2E4	DIP2C_HUMAN	S	1027	ENSP00000280886:G1027S	ENSP00000280886:G1027S	G	-	1	0	DIP2C	385301	1.000000	0.71417	0.421000	0.26609	0.302000	0.27658	7.811000	0.86092	2.409000	0.81822	0.563000	0.77884	GGC	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046389.1		-	ENST00000280886.6	Missense_Mutation	SNP	10 : 395301 - 395301 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	175	5
EPHA8	2046	broad.mit.edu	37	1	22923888	22923888	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22923888G>A	ENST00000166244.3	+	10	1921	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	617						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACACCTACGAGGAGCCAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	0,4406		0,0,2203	63	78	73		1849	4.6	1	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA8	NM_020526.3	56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	617/1006	22923888	1,13005	2203	4300	6503	SO:0001583	missense			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1849G>A	1.37:g.22923888G>A	ENSP00000166244:p.Glu617Lys	NA	Q9NUA9|Q9P269	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987973	0.74589	0.0	1.16E-4	ENSG00000070886	ENST00000166244	T	0.23754	1.89	4.63	4.63	0.57726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.82716	2.605	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.61407	-0.7069	10	0.87932	D	0	.	16.2101	0.82150	0.0:0.0:1.0:0.0	.	617	P29322	EPHA8_HUMAN	K	617	ENSP00000166244:E617K	ENSP00000166244:E617K	E	+	1	0	EPHA8	22796475	1.000000	0.71417	0.978000	0.43139	0.105000	0.19272	9.657000	0.98554	2.412000	0.81896	0.491000	0.48974	GAG	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Missense_Mutation	SNP	1 : 22923888 - 22923888 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	813	18
EPHA8	2046	broad.mit.edu	37	1	22927844	22927844	+	Silent	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22927844C>T	ENST00000166244.3	+	16	2853	c.2781C>T	c.(2779-2781)agC>agT	p.S927S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	927						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGGGGCAGCGGTGGCGGTG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	41	39			NA	NA	1		NA											NA				22927844		2178	4228	6406	SO:0001819	synonymous_variant			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2046	2046	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3391	protein-coding gene	gene with protein product		176945	EphA8	EEK	NA	1648701	Standard	NM_020526	NM_001006943	NA	Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2781C>T	1.37:g.22927844C>T		NA	Q9NUA9|Q9P269	37	CCDS225.1																																																																																			EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008085.1		+	ENST00000166244.3	Silent	SNP	1 : 22927844 - 22927844 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	437	10
FREM2	341640	broad.mit.edu	37	13	39357268	39357268	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:39357268C>A	ENST00000280481.7	+	5	5919	c.5703C>A	c.(5701-5703)ttC>ttA	p.F1901L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1901	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGAGCTGTTCATTCCCATCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	196	201			NA	NA	13		NA											NA				39357268		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5703C>A	13.37:g.39357268C>A	ENSP00000280481:p.Phe1901Leu	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513669	0.00975	.	.	ENSG00000150893	ENST00000280481	T	0.28454	1.61	5.84	3.09	0.35607	Na-Ca exchanger/integrin-beta4 (2);	0.154739	0.64402	N	0.000015	T	0.09555	0.0235	N	0.03177	-0.4	0.41029	D	0.985147	B	0.02656	0.0	B	0.09377	0.004	T	0.22487	-1.0215	10	0.05620	T	0.96	.	4.3073	0.10953	0.1488:0.4504:0.0:0.4008	.	1901	Q5SZK8	FREM2_HUMAN	L	1901	ENSP00000280481:F1901L	ENSP00000280481:F1901L	F	+	3	2	FREM2	38255268	0.416000	0.25424	0.826000	0.32828	0.043000	0.13939	-0.373000	0.07494	0.334000	0.23590	0.514000	0.50259	TTC	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39357268 - 39357268 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	597	17
FRMD7	90167	broad.mit.edu	37	X	131216469	131216469	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:131216469G>A	ENST00000298542.4	-	9	1002	c.827C>T	c.(826-828)gCt>gTt	p.A276V	FRMD7_ENST00000370879.1_Missense_Mutation_p.A156V|FRMD7_ENST00000464296.1_Missense_Mutation_p.A261V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	276	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGAAGAAAGCATGGTATTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													220	208	212			NA	NA	X		NA											NA				131216469		2203	4300	6503	SO:0001583	missense			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694	90167	90167			8079	protein-coding gene	gene with protein product		300628	nystagmus 1, congenital	NYS, NYS1	NA	2063919, 17013395	Standard	NM_194277	NM_194277	NA	Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.827C>T	X.37:g.131216469G>A	ENSP00000298542:p.Ala276Val	NA	C0LLJ3|Q5JX99	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112065	0.94339	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87650	-2.28;-2.28;-2.28	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.116646	0.56097	D	0.000024	D	0.94686	0.8286	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95702	0.8750	10	0.87932	D	0	.	16.9793	0.86323	0.0:0.0:1.0:0.0	.	261;276	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	V	156;276;261	ENSP00000359916:A156V;ENSP00000298542:A276V;ENSP00000417996:A261V	ENSP00000298542:A276V	A	-	2	0	FRMD7	131044150	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.813000	0.99286	2.305000	0.77605	0.544000	0.68410	GCT	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355031.1		-	ENST00000298542.4	Missense_Mutation	SNP	X : 131216469 - 131216469 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	1458	41
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:178410024C>T	ENST00000517717.1	-	10	2361	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V775M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	775					detection of visible light|visual perception	integral to plasma membrane		p.V775M(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)											131	107	115			NA	NA	5		NA											NA				178410024		2203	4300	6503	SO:0001583	missense			U82083	CCDS4442.1	5q35	2014-01-28					2916	2916		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4598	protein-coding gene	gene with protein product		604096			NA	9215706	Standard		NM_000843	NA	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2323G>A	5.37:g.178410024C>T	ENSP00000430767:p.Val775Met	NA		37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379871	0.61845	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89485	-2.52;-2.52	5.18	5.18	0.71444	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.94823	0.8328	M	0.84683	2.71	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.967	D	0.95314	0.8414	9	0.72032	D	0.01	.	16.5534	0.84478	0.0:1.0:0.0:0.0	.	775;69	O15303;Q5HYM4	GRM6_HUMAN;.	M	775	ENSP00000231188:V775M;ENSP00000430767:V775M	ENSP00000231188:V775M	V	-	1	0	GRM6	178342630	1.000000	0.71417	0.767000	0.31495	0.036000	0.12997	7.658000	0.83755	2.591000	0.87537	0.313000	0.20887	GTG	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253474.2		-	ENST00000517717.1	Missense_Mutation	SNP	5 : 178410024 - 178410024 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	368	10
HAS2	3037	broad.mit.edu	37	8	122641537	122641537	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:122641537G>T	ENST00000303924.4	-	2	581	c.44C>A	c.(43-45)aCc>aAc	p.T15N		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	15						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAGAGTGTGGTTCCAATTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	56	56			NA	NA	8		NA											NA				122641537		2203	4299	6502	SO:0001583	missense			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	3037	3037	2.4.1.212	Glycosyltransferase family 2 domain containing	4819	protein-coding gene	gene with protein product		601636			NA	9169154	Standard	NM_005328	NM_005328	NA	Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.44C>A	8.37:g.122641537G>T	ENSP00000306991:p.Thr15Asn	NA	Q32MM3	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369297	0.82463	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.57107	0.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.79123	2.44	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	T	0.69495	-0.5130	10	0.49607	T	0.09	-22.0036	20.8794	0.99867	0.0:0.0:1.0:0.0	.	15	Q92819	HAS2_HUMAN	N	15	ENSP00000306991:T15N	ENSP00000306991:T15N	T	-	2	0	HAS2	122710718	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.800000	0.99124	2.941000	0.99782	0.655000	0.94253	ACC	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381150.2		-	ENST00000303924.4	Missense_Mutation	SNP	8 : 122641537 - 122641537 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	327	8
HMCN1	83872	broad.mit.edu	37	1	186057376	186057376	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186057376C>T	ENST00000271588.4	+	62	9774	c.9545C>T	c.(9544-9546)aCg>aTg	p.T3182M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3182M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3182	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACCTCCCACGATAGCATGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	83	87			NA	NA	1		NA											NA				186057376		2203	4300	6503	SO:0001583	missense			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9545C>T	1.37:g.186057376C>T	ENSP00000271588:p.Thr3182Met	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535093	0.27475	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.63	-1.85	0.07784	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.735216	0.13487	N	0.384223	T	0.62925	0.2468	M	0.78456	2.415	0.09310	N	1	B	0.27791	0.189	B	0.24155	0.051	T	0.54234	-0.8324	10	0.48119	T	0.1	.	11.2133	0.48813	0.0:0.5779:0.0:0.4221	.	3182	Q96RW7	HMCN1_HUMAN	M	3182	ENSP00000271588:T3182M;ENSP00000356462:T3182M	ENSP00000271588:T3182M	T	+	2	0	HMCN1	184323999	0.002000	0.14202	0.000000	0.03702	0.741000	0.42261	0.371000	0.20450	-0.692000	0.05128	-0.471000	0.05019	ACG	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 186057376 - 186057376 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	228	7
ITGB4	3691	broad.mit.edu	37	17	73748594	73748594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:73748594G>A	ENST00000200181.3	+	32	4231	c.4044G>A	c.(4042-4044)atG>atA	p.M1348I	ITGB4_ENST00000449880.2_Missense_Mutation_p.M1348I|ITGB4_ENST00000579662.1_Missense_Mutation_p.M1348I|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.M1348I|ITGB4_ENST00000450894.3_Missense_Mutation_p.M1348I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1348					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCCTTATGTACAGCGATG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	112			NA	NA	17		NA											NA				73748594		2203	4300	6503	SO:0001583	missense				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4044G>A	17.37:g.73748594G>A	ENSP00000200181:p.Met1348Ile	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667504	0.47677	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.75938	-0.98;-0.94;-0.94	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.36672	1.1	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.80764	0.994;0.987;0.987	T	0.81342	-0.0976	10	0.46703	T	0.11	.	16.9575	0.86263	0.0:0.0:1.0:0.0	.	1348;1348;1348	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	I	1348	ENSP00000200181:M1348I;ENSP00000344079:M1348I;ENSP00000400217:M1348I	ENSP00000200181:M1348I	M	+	3	0	ITGB4	71260189	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	9.571000	0.98176	2.207000	0.71202	0.561000	0.74099	ATG	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Missense_Mutation	SNP	17 : 73748594 - 73748594 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	615	21
KCTD11	147040	broad.mit.edu	37	17	7256580	7256580	+	Missense_Mutation	SNP	C	C	T	rs35280612		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:7256580C>T	ENST00000333751.3	+	1	1373	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	107					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTCTGCTCGCCGGGGACCCCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	50	52			NA	NA	17		NA											NA				7256580		2203	4300	6503	SO:0001583	missense			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859	147040	147040			21302	protein-coding gene	gene with protein product		609848	chromosome 17 open reading frame 36, potassium channel tetramerisation domain containing 11	C17orf36	NA	12186855, 21472142	Standard	NM_001002914	NM_001002914	NA	Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.319C>T	17.37:g.7256580C>T	ENSP00000328352:p.Arg107Trp	NA	B3KPE0	37	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382499	0.61845	.	.	ENSG00000213859	ENST00000333751	T	0.71698	-0.59	5.38	-3.06	0.05379	.	0.158994	0.26979	U	0.021525	T	0.47002	0.1422	N	0.19112	0.55	0.09310	N	1	P	0.51537	0.946	B	0.33521	0.165	T	0.55471	-0.8136	10	0.72032	D	0.01	.	15.0564	0.71917	0.774:0.226:0.0:0.0	.	107	Q693B1	KCD11_HUMAN	W	107	ENSP00000328352:R107W	ENSP00000328352:R107W	R	+	1	2	KCTD11	7197304	0.646000	0.27295	0.873000	0.34254	0.874000	0.50279	0.512000	0.22755	-0.389000	0.07786	0.462000	0.41574	CGG	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255084.2		+	ENST00000333751.3	Missense_Mutation	SNP	17 : 7256580 - 7256580 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	334	14
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	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-FB-A4P5-Tumor-SM-47KKM	0	0
LRP5	4041	broad.mit.edu	37	11	68115353	68115353	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:68115353C>T	ENST00000294304.7	+	2	236	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	44	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGACGTACGGCTGGTGGA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4312		0,0,2156	37	39	38		130	2.2	1	11		38	1,8375		0,1,4187	no	missense	LRP5	NM_002335.2	101	0,1,6343	TT,TC,CC	NA	0.0119,0.0,0.0079	probably-damaging	44/1616	68115353	1,12687	2156	4188	6344	SO:0001583	missense			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337	4041	4041		Low density lipoprotein receptors	6697	protein-coding gene	gene with protein product		603506	osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1	LRP7, OPPG, EVR1	NA	9714764, 10049586	Standard	NM_002335	XM_005273994	NA	Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.130C>T	11.37:g.68115353C>T	ENSP00000294304:p.Arg44Trp	NA	Q96TD6|Q9UP66	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342253	0.41498	0.0	1.19E-4	ENSG00000162337	ENST00000294304	D	0.91792	-2.91	4.23	2.22	0.28083	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.38436	U	0.001695	D	0.96513	0.8862	H	0.95079	3.62	0.49483	D	0.999798	D	0.89917	1.0	D	0.97110	1.0	D	0.95702	0.8750	10	0.87932	D	0	.	8.5936	0.33701	0.2119:0.7033:0.0:0.0848	.	44	O75197	LRP5_HUMAN	W	44	ENSP00000294304:R44W	ENSP00000294304:R44W	R	+	1	2	LRP5	67871929	0.948000	0.32251	0.964000	0.40570	0.037000	0.13140	2.186000	0.42593	1.148000	0.42385	-0.215000	0.12644	CGG	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395088.1		+	ENST00000294304.7	Missense_Mutation	SNP	11 : 68115353 - 68115353 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	383	13
MED14	9282	broad.mit.edu	37	X	40573077	40573077	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:40573077C>T	ENST00000324817.1	-	5	723	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	202	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTACAAGCCGATGTCTAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	158	162			NA	NA	X		NA											NA				40573077		2203	4300	6503	SO:0001583	missense			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182	9282	9282			2370	protein-coding gene	gene with protein product		300182	cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa	CXorf4, CRSP2	NA	9989412, 9598311	Standard	NM_004229	NM_004229	NA	Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.605G>A	X.37:g.40573077C>T	ENSP00000323720:p.Arg202Gln	NA	Q4KMR7|Q9UNB3	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665183	0.96745	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.88105	2.93	0.80722	D	1	D	0.54397	0.966	P	0.47645	0.553	T	0.82108	-0.0620	9	0.72032	D	0.01	.	18.0658	0.89390	0.0:1.0:0.0:0.0	.	202	O60244	MED14_HUMAN	Q	202	.	ENSP00000323720:R202Q	R	-	2	0	MED14	40458021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.400000	0.79949	2.290000	0.77057	0.544000	0.68410	CGG	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060692.1		-	ENST00000324817.1	Missense_Mutation	SNP	X : 40573077 - 40573077 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	501	16
OR10AG1	282770	broad.mit.edu	37	11	55735162	55735162	+	Silent	SNP	T	T	G			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:55735162T>G	ENST00000312345.2	-	1	828	c.778A>C	c.(778-780)Agg>Cgg	p.R260R		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCCCATCCTTTGAAACTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	70			NA	NA	11		NA											NA				55735162		2201	4296	6497	SO:0001819	synonymous_variant			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970	282770	282770		GPCR / Class A : Olfactory receptors	19607	protein-coding gene	gene with protein product					NA		Standard	NM_001005491	NM_001005491	NA	Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.778A>C	11.37:g.55735162T>G		NA	B2RNH4|Q6IEU3	37	CCDS31514.1																																																																																			OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391531.1		-	ENST00000312345.2	Silent	SNP	11 : 55735162 - 55735162 G PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	286	6
PASD1	139135	broad.mit.edu	37	X	150840063	150840063	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:150840063C>T	ENST00000370357.4	+	13	1494	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	417						nucleus	signal transducer activity	p.R417C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACATTACGCCACGTTGT	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)	breast(1)						C	CYS/ARG	0,3835		0,0,1632,571	216	171	186		1249	-5.2	0	X		186	1,6727		0,1,2427,1872	yes	missense	PASD1	NM_173493.2	180	0,1,4059,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	benign	417/774	150840063	1,10562	2203	4300	6503	SO:0001583	missense			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049	139135	139135			20686	protein-coding gene	gene with protein product	cancer/testis antigen 63				NA	15122589, 15162151	Standard	NM_173493	NM_173493	NA	Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1249C>T	X.37:g.150840063C>T	ENSP00000359382:p.Arg417Cys	NA	Q3MNE0|Q69HD7|Q8N7X9	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	3.252	-0.153046	0.06585	0.0	1.49E-4	ENSG00000166049	ENST00000370357	T	0.19250	2.16	3.29	-5.21	0.02815	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.23940	-1.0174	9	0.38643	T	0.18	-28.8384	1.7157	0.02901	0.1165:0.3389:0.2296:0.315	.	417	Q8IV76	PASD1_HUMAN	C	417	ENSP00000359382:R417C	ENSP00000359382:R417C	R	+	1	0	PASD1	150590719	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.494000	0.02296	-2.249000	0.00702	-2.831000	0.00106	CGC	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060879.2		+	ENST00000370357.4	Missense_Mutation	SNP	X : 150840063 - 150840063 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	806	12
PCDHGB4	8641	broad.mit.edu	37	5	140769030	140769030	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140769030G>A	ENST00000519479.1	+	1	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			protocadherin gamma subfamily B, 4	NA										endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCTTCGAACTCACACT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	43	42			NA	NA	5		NA											NA				140769030		2038	4188	6226	SO:0001583	missense			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953	8641	8641		Cadherins / Protocadherins : Clustered	8711	other	protocadherin	fibroblast cadherin FIB2, cadherin 20	603058			NA	10380929	Standard	NM_003736	NM_003736	NA	Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1579G>A	5.37:g.140769030G>A	ENSP00000428288:p.Glu527Lys	NA		37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	8.696	0.908490	0.17833	.	.	ENSG00000253953	ENST00000519479	T	0.54071	0.59	4.95	-1.96	0.07525	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.43831	0.1265	L	0.46947	1.48	0.09310	N	1	P;P	0.44478	0.836;0.697	B;B	0.38458	0.261;0.274	T	0.29336	-1.0015	9	0.33940	T	0.23	.	15.7771	0.78232	0.1245:0.6211:0.2544:0.0	.	527;527	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	527	ENSP00000428288:E527K	ENSP00000428288:E527K	E	+	1	0	PCDHGB4	140749214	0.000000	0.05858	0.688000	0.30117	0.248000	0.25809	-2.903000	0.00703	-1.088000	0.03077	-2.589000	0.00165	GAA	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374745.1		+	ENST00000519479.1	Missense_Mutation	SNP	5 : 140769030 - 140769030 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	300	8
PPAPDC3	84814	broad.mit.edu	37	9	134165668	134165668	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:134165668G>A	ENST00000372264.3	+	1	588	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R95Q	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	95						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		ATGTCCAAGCGGCTGGGGGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	74	73			NA	NA	9		NA											NA				134165668		2203	4300	6503	SO:0001583	missense			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539	84814	84814			28174	protein-coding gene	gene with protein product			chromosome 9 open reading frame 67	C9orf67	NA	12958361	Standard	NM_032728	NM_032728	NA	Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.284G>A	9.37:g.134165668G>A	ENSP00000361338:p.Arg95Gln	NA	Q5T6P0|Q96SS7|Q9BRC3	37	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011501	0.97200	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.50548	1.8;0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.70174	-0.4944	10	0.62326	D	0.03	-40.1758	18.802	0.92022	0.0:0.0:1.0:0.0	.	95	Q8NBV4	PPAC3_HUMAN	Q	95	ENSP00000361338:R95Q;ENSP00000361335:R95Q	ENSP00000361335:R95Q	R	+	2	0	PPAPDC3	133155489	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.608000	0.82898	2.682000	0.91365	0.561000	0.74099	CGG	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054724.1		+	ENST00000372264.3	Missense_Mutation	SNP	9 : 134165668 - 134165668 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	533	11
PRG4	10216	broad.mit.edu	37	1	186281436	186281436	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186281436T>A	ENST00000445192.2	+	11	3968	c.3923T>A	c.(3922-3924)aTa>aAa	p.I1308K	PRG4_ENST00000367486.3_Missense_Mutation_p.I1265K|PRG4_ENST00000367484.3_Missense_Mutation_p.I837K|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367485.4_Missense_Mutation_p.I1215K|PRG4_ENST00000367483.4_Missense_Mutation_p.I1267K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1308					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAACGTGCTATAGGACCTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	143	143			NA	NA	1		NA											NA				186281436		2203	4300	6503	SO:0001583	missense			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690	10216	10216			9364	protein-coding gene	gene with protein product	lubricin, megakaryocyte stimulating factor, articular superficial zone protein, Jacobs camptodactyly-arthropathy-pericarditis syndrome, camptodactyly, arthropathy, coxa vara, pericarditis syndrome, bG174L6.2 (MSF: megakaryocyte stimulating factor )	604283	proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)	CACP	NA	10545950, 9920774	Standard	NM_005807	NM_005807	NA	Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3923T>A	1.37:g.186281436T>A	ENSP00000399679:p.Ile1308Lys	NA	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.543642	0.27563	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.07688	3.17;3.29;3.27;3.18;3.27	5.48	1.86	0.25419	Hemopexin/matrixin (1);	0.514144	0.16080	N	0.230549	T	0.15652	0.0377	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.71674	0.988;0.988;0.998;0.988	P;P;P;P	0.62014	0.851;0.851;0.897;0.851	T	0.08534	-1.0717	10	0.87932	D	0	-2.0141	5.7754	0.18277	0.0:0.1475:0.1412:0.7113	.	1174;1215;1308;1267	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	1265;837;1267;1215;1308	ENSP00000356456:I1265K;ENSP00000356454:I837K;ENSP00000356453:I1267K;ENSP00000356455:I1215K;ENSP00000399679:I1308K	ENSP00000356453:I1267K	I	+	2	0	PRG4	184548059	0.007000	0.16637	0.001000	0.08648	0.291000	0.27294	1.709000	0.37909	0.121000	0.18284	0.477000	0.44152	ATA	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086346.1		+	ENST00000445192.2	Missense_Mutation	SNP	1 : 186281436 - 186281436 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	674	20
RCVRN	5957	broad.mit.edu	37	17	9808122	9808122	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:9808122C>T	ENST00000226193.5	-	1	816	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	126	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTGACCATGACGATCTCCAGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	102	109			NA	NA	17		NA											NA				9808122		2203	4300	6503	SO:0001583	missense			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047	5957	5957		EF-hand domain containing	9937	protein-coding gene	gene with protein product		179618		RCV1	NA	1387789, 12507501, 1467959, 12789533	Standard	NM_002903	NM_002903	NA	Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.376G>A	17.37:g.9808122C>T	ENSP00000226193:p.Val126Ile	NA		37	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803586	0.16467	.	.	ENSG00000109047	ENST00000226193	T	0.66280	-0.2	4.86	1.66	0.24008	EF-hand-like domain (1);	0.252761	0.39909	N	0.001225	T	0.41282	0.1152	N	0.21508	0.67	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.11542	-1.0583	10	0.26408	T	0.33	.	7.0455	0.25042	0.0:0.6107:0.0:0.3893	.	126	P35243	RECO_HUMAN	I	126	ENSP00000226193:V126I	ENSP00000226193:V126I	V	-	1	0	RCVRN	9748847	0.052000	0.20516	0.997000	0.53966	0.306000	0.27790	0.015000	0.13355	0.554000	0.29061	0.655000	0.94253	GTC	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252600.2		-	ENST00000226193.5	Missense_Mutation	SNP	17 : 9808122 - 9808122 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	451	17
SEMA5A	9037	broad.mit.edu	37	5	9066644	9066644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:9066644G>A	ENST00000382496.5	-	17	2853	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	730	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CATGTGTATCGGAATCGTTGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	147	151			NA	NA	5		NA											NA				9066644		2203	4300	6503	SO:0001587	stop_gained			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902	9037	9037		Semaphorins	10736	protein-coding gene	gene with protein product		609297		SEMAF	NA	8817451, 9464278	Standard		NM_003966	NA	Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2188C>T	5.37:g.9066644G>A	ENSP00000371936:p.Arg730*	NA	D3DTC6|O60408|Q1RLL9	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	44	10.876622	0.99482	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.52	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9373	0.64032	0.0:0.0:0.8468:0.1532	.	.	.	.	X	730	.	ENSP00000371936:R730X	R	-	1	2	SEMA5A	9119644	1.000000	0.71417	0.961000	0.40146	0.351000	0.29236	2.938000	0.48987	1.468000	0.48064	-0.230000	0.12252	CGA	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206989.2		-	ENST00000382496.5	Nonsense_Mutation	SNP	5 : 9066644 - 9066644 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	767	26
SEPT9	10801	broad.mit.edu	37	17	75398245	75398245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:75398245C>T	ENST00000423034.2	+	2	468	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	SEPT9_ENST00000329047.8_Nonsense_Mutation_p.Q43*|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427177.1_Nonsense_Mutation_p.Q61*|SEPT9_ENST00000590294.1_Nonsense_Mutation_p.Q43*|SEPT9_ENST00000591198.1_Nonsense_Mutation_p.Q42*|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR	NM_001113493.1	NP_001106965.1	Q9UHD8	SEPT9_HUMAN	septin 9	61					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAGCTCCACCCAGAAATTCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	35	34			NA	NA	17		NA											NA				75398245		1926	4138	6064	SO:0001587	stop_gained			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640	10801	10801		Septins	7323	protein-coding gene	gene with protein product	Ov/Br septin	604061	MLL septin-like fusion	MSF	NA	10339604, 10485469	Standard	NM_006640	NM_006640	NA	Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000423034.2:c.160C>T	17.37:g.75398245C>T	ENSP00000405877:p.Gln54*	NA	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	37	CCDS45792.1	.	.	.	.	.	.	.	.	.	.	C	45	11.389194	0.99555	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	.	.	.	4.89	4.89	0.63831	.	2.942800	0.01335	U	0.011366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.0435	0.86496	0.0:1.0:0.0:0.0	.	.	.	.	X	61;43;54	.	ENSP00000329161:Q43X	Q	+	1	0	SEPT9	72909840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.105000	0.57797	2.262000	0.75019	0.555000	0.69702	CAG	SEPT9-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436351.1		+	ENST00000423034.2	Nonsense_Mutation	SNP	17 : 75398245 - 75398245 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	246	12
SLC6A7	6534	broad.mit.edu	37	5	149576606	149576606	+	Splice_Site	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:149576606C>T	ENST00000524041.1	+	4	594	c.351C>T	c.(349-351)ggC>ggT	p.G117G	SLC6A7_ENST00000230671.2_Splice_Site_p.G117G			Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	117						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCACACCAGGCGCCGGCGCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	5		NA											NA				149576606		2203	4300	6503	SO:0001630	splice_region_variant			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083	6534	6534		Solute carriers	11054	protein-coding gene	gene with protein product	brain-specific L-proline transporter, sodium-dependent proline transporter	606205	solute carrier family 6 (neurotransmitter transporter, L-proline), member 7		NA	7651355	Standard	NM_014228	NM_014228	NA	Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000524041.1:c.350-1C>T	5.37:g.149576606C>T		NA	Q0VG81|Q52LU6	37																																																																																				SLC6A7-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000377501.1	Silent	+	ENST00000524041.1	Splice_Site	SNP	5 : 149576606 - 149576606 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	146	7
SLC7A3	84889	broad.mit.edu	37	X	70146745	70146745	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:70146745T>C	ENST00000374299.3	-	9	1577	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.Y478C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	478					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACAAACATAGACAATTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	79	83			NA	NA	X		NA											NA				70146745		2203	4300	6503	SO:0001583	missense			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349	84889	84889		Solute carriers	11061	protein-coding gene	gene with protein product		300443			NA	11591158	Standard	NM_032803	NM_001048164	NA	Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1433A>G	X.37:g.70146745T>C	ENSP00000363417:p.Tyr478Cys	NA	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126783	0.37533	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88431	-2.38;-2.38	5.31	5.31	0.75309	.	0.111999	0.64402	D	0.000006	D	0.89626	0.6769	M	0.86028	2.79	0.52099	D	0.999945	B	0.26081	0.141	B	0.25759	0.063	D	0.88089	0.2812	10	0.51188	T	0.08	.	13.061	0.59008	0.0:0.0:0.0:1.0	.	478	Q8WY07	CTR3_HUMAN	C	478	ENSP00000363417:Y478C;ENSP00000298085:Y478C	ENSP00000298085:Y478C	Y	-	2	0	SLC7A3	70063470	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.912000	0.69948	1.968000	0.57251	0.430000	0.28490	TAT	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057080.1		-	ENST00000374299.3	Missense_Mutation	SNP	X : 70146745 - 70146745 C PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	208	7
SPSB3	90864	broad.mit.edu	37	16	1828584	1828584	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr16:1828584G>A	ENST00000566339.1	-	3	486	c.156C>T	c.(154-156)taC>taT	p.Y52Y	SPSB3_ENST00000301717.4_Silent_p.Y52Y	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	52					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCAGCGTGGAGTACTCGGGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	98	97			NA	NA	16		NA											NA				1828584		2199	4300	6499	SO:0001819	synonymous_variant				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032	90864	90864			30629	protein-coding gene	gene with protein product		611659	chromosome 16 open reading frame 31	C16orf31	NA	12076535	Standard	NM_080861	NM_080861	NA	Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.156C>T	16.37:g.1828584G>A		NA	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	37	CCDS32365.1																																																																																			SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433512.1		-	ENST00000566339.1	Silent	SNP	16 : 1828584 - 1828584 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	342	12
TBC1D25	4943	broad.mit.edu	37	X	48418156	48418156	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48418156C>T	ENST00000376771.4	+	6	1201	c.860C>T	c.(859-861)aCg>aTg	p.T287M	TBC1D25_ENST00000537536.1_Missense_Mutation_p.T33M	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	287	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATCCGCAGCACGGTCCTCAAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	44	46			NA	NA	X		NA											NA				48418156		2202	4300	6502	SO:0001583	missense			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354	4943	4943			8092	protein-coding gene	gene with protein product		311240	ornithine aminotransferase-like 1	OATL1	NA	21383079	Standard	NM_002536	NM_002536	NA	Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.860C>T	X.37:g.48418156C>T	ENSP00000365962:p.Thr287Met	NA	Q08AN9|Q3MII4|Q8TAR9	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272312	0.23221	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.12361	2.69;2.69	5.89	4.95	0.65309	Rab-GAP/TBC domain (4);	0.053790	0.64402	D	0.000001	T	0.03178	0.0093	N	0.00765	-1.205	0.34569	D	0.713181	B;B;B	0.25441	0.126;0.023;0.013	B;B;B	0.14023	0.01;0.01;0.01	T	0.28996	-1.0026	10	0.02654	T	1	-2.3984	9.7287	0.40348	0.3521:0.6479:0.0:0.0	.	291;229;287	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	M	287;33	ENSP00000365962:T287M;ENSP00000444091:T33M	ENSP00000365962:T287M	T	+	2	0	TBC1D25	48303100	0.998000	0.40836	0.967000	0.41034	0.807000	0.45602	3.928000	0.56506	2.499000	0.84300	0.529000	0.55759	ACG	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060764.2		+	ENST00000376771.4	Missense_Mutation	SNP	X : 48418156 - 48418156 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	191	7
TCN1	6947	broad.mit.edu	37	11	59629067	59629067	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:59629067G>A	ENST00000257264.3	-	4	593	c.489C>T	c.(487-489)acC>acT	p.T163T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	163					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAACTTCGGCGGTTGAGTAGT	0.448		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													120	119	119			NA	NA	11		NA											NA				59629067		2201	4295	6496	SO:0001819	synonymous_variant			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827	6947	6947			11652	protein-coding gene	gene with protein product	haptocorin, haptocorrin	189905			NA		Standard	NM_001062	NM_001062	NA	Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.489C>T	11.37:g.59629067G>A		NA	A8KAC5|Q8WV77	37	CCDS7978.1																																																																																			TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394503.1		-	ENST00000257264.3	Silent	SNP	11 : 59629067 - 59629067 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	576	12
TFE3	7030	broad.mit.edu	37	X	48896768	48896768	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48896768C>T	ENST00000315869.7	-	3	657	c.398G>A	c.(397-399)cGt>cAt	p.R133H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	133					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGTTCCCGACGCTCACGCCT	0.662		NA	T	SFPQ, ASPSCR1, PRCC, NONO, CLTC	papillary renal, alveolar soft part sarcoma, renal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													23	22	22			NA	NA	X		NA											NA				48896768		2200	4295	6495	SO:0001583	missense			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323	7030	7030		Basic helix-loop-helix proteins	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310			NA	1672758, 1685140	Standard	NM_006521	NM_006521	NA	Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.398G>A	X.37:g.48896768C>T	ENSP00000314129:p.Arg133His	NA	A8MZL6|Q92757|Q92758|Q99964	37	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834420	0.50951	.	.	ENSG00000068323	ENST00000315869	T	0.17370	2.28	5.36	4.49	0.54785	.	0.207799	0.40554	N	0.001077	T	0.12646	0.0307	L	0.52011	1.625	0.30557	N	0.764871	P	0.49783	0.928	B	0.35813	0.211	T	0.23797	-1.0178	10	0.72032	D	0.01	-7.8369	6.4239	0.21758	0.0:0.8025:0.0:0.1975	.	133	P19532	TFE3_HUMAN	H	133	ENSP00000314129:R133H	ENSP00000314129:R133H	R	-	2	0	TFE3	48783712	0.253000	0.23982	0.998000	0.56505	0.716000	0.41182	0.777000	0.26718	2.224000	0.72417	0.513000	0.50165	CGT	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058872.2		-	ENST00000315869.7	Missense_Mutation	SNP	X : 48896768 - 48896768 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	85	4
TGIF2LX	90316	broad.mit.edu	37	X	89177404	89177404	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:89177404G>A	ENST00000561129.2	+	1	450	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R107H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCTCGCAGACGCATTCTCCCG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	123	127			NA	NA	X		NA											NA				89177404		2203	4300	6503	SO:0001583	missense			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779	90316	90316		Homeoboxes / TALE class	18570	protein-coding gene	gene with protein product		300411	TGFB-induced factor 2-like, X-linked		NA		Standard	NM_138960	NM_138960	NA	Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.320G>A	X.37:g.89177404G>A	ENSP00000453704:p.Arg107His	NA	Q5JRM9|Q8TD48	37	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041557	0.55003	.	.	ENSG00000153779	ENST00000283891	D	0.98617	-5.03	3.08	2.18	0.27775	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	.	.	.	.	D	0.99245	0.9737	H	0.96048	3.76	0.18873	N	0.999989	D	0.76494	0.999	D	0.70227	0.968	D	0.95720	0.8765	8	.	.	.	-22.4853	8.1044	0.30877	0.1341:0.0:0.8659:0.0	.	107	Q8IUE1	TF2LX_HUMAN	H	107	ENSP00000355119:R107H	.	R	+	2	0	TGIF2LX	89064060	0.232000	0.23762	0.001000	0.08648	0.285000	0.27093	3.495000	0.53280	0.663000	0.31027	0.513000	0.50165	CGC	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417911.2		+	ENST00000561129.2	Missense_Mutation	SNP	X : 89177404 - 89177404 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	859	20
TLR9	54106	broad.mit.edu	37	3	52255986	52255986	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:52255986G>A	ENST00000494383.1	-	5	2805	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	TLR9_ENST00000360658.2_Silent_p.P782P|TLR9_ENST00000597542.1_Silent_p.P806P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGGCAGACCGGGCACGGCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	3		NA											NA				52255986		2200	4291	6491	SO:0001583	missense			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732	54106	54106		CD molecules	15633	protein-coding gene	gene with protein product		605474			NA	11022119	Standard		NM_017442	NA	Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000494383.1:c.2806C>T	3.37:g.52255986G>A	ENSP00000417517:p.Arg936Trp	NA	B3Y661|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	37		.	.	.	.	.	.	.	.	.	.	A	4.348	0.064092	0.08388	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	T	0.40403	-0.9565	4	.	.	.	.	2.3241	0.04218	0.4323:0.1532:0.2706:0.1439	.	.	.	.	W	936	.	.	R	-	1	2	RP11-330H6.5	52231026	0.000000	0.05858	0.004000	0.12327	0.786000	0.44442	-5.459000	0.00120	-2.475000	0.00527	-0.521000	0.04368	CGG	TLR9-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367019.1		-	ENST00000494383.1	Missense_Mutation	SNP	3 : 52255986 - 52255986 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	187	8
TRAPPC9	83696	broad.mit.edu	37	8	141461429	141461429	+	Missense_Mutation	SNP	G	G	A	rs142839408		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:141461429G>A	ENST00000389328.4	-	2	352	c.338C>T	c.(337-339)aCg>aTg	p.T113M	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.T15M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T15M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	15					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACGAGCAGCGTCTGGTGGTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR	5,4395		0,5,2195	30	31	31		44,338	4.4	0.9	8	dbSNP_134	31	2,8594		0,2,4296	yes	missense,missense	TRAPPC9	NM_001160372.1,NM_031466.5	81,81	0,7,6491	AA,AG,GG	NA	0.0233,0.1136,0.0539	probably-damaging,probably-damaging	15/1149,113/1247	141461429	7,12989	2200	4298	6498	SO:0001583	missense			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632	83696	83696		Trafficking protein particle complex	30832	protein-coding gene	gene with protein product	TRAPP 120 kDa subunit, tularik gene 1	611966			NA	11572484	Standard	NM_031466	NM_031466	NA	Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000389328.4:c.338C>T	8.37:g.141461429G>A	ENSP00000373979:p.Thr113Met	NA	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	37	CCDS34946.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921045	0.73213	0.001136	2.33E-4	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.26	4.39	0.52855	.	0.046901	0.85682	D	0.000000	T	0.70369	0.3216	L	0.54323	1.7	0.44221	D	0.99705	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.967;0.967	T	0.71474	-0.4582	9	0.51188	T	0.08	.	13.9017	0.63809	0.0735:0.0:0.9265:0.0	.	15;15;113	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	M	113;15;15	.	ENSP00000373978:T15M	T	-	2	0	TRAPPC9	141530611	1.000000	0.71417	0.924000	0.36721	0.956000	0.61745	9.640000	0.98453	1.210000	0.43336	0.650000	0.86243	ACG	TRAPPC9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377711.3		-	ENST00000389328.4	Missense_Mutation	SNP	8 : 141461429 - 141461429 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	227	11
TRPM6	140803	broad.mit.edu	37	9	77386696	77386696	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:77386696G>A	ENST00000360774.1	-	25	3696	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	TRPM6_ENST00000376864.4_Silent_p.C1153C|TRPM6_ENST00000361255.3_Silent_p.C1148C|TRPM6_ENST00000449912.2_Silent_p.C1148C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Silent_p.C1153C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1153					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTTTCCACGCACTGCTCCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	105	109			NA	NA	9		NA											NA				77386696		2203	4300	6503	SO:0001819	synonymous_variant			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3459C>T	9.37:g.77386696G>A		NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1																																																																																			TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Silent	SNP	9 : 77386696 - 77386696 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	241	10
USP32	84669	broad.mit.edu	37	17	58292024	58292024	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:58292024C>T	ENST00000300896.4	-	17	2173	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	USP32_ENST00000592339.1_Missense_Mutation_p.R330H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTCTTTAATGCGCAGCCTTTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	38	39			NA	NA	17		NA											NA				58292024		2201	4295	6496	SO:0001583	missense			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832	84669	84669		Ubiquitin-specific peptidases, EF-hand domain containing	19143	protein-coding gene	gene with protein product		607740	ubiquitin specific protease 32		NA	12838346	Standard	NM_032582	NM_032582	NA	Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1979G>A	17.37:g.58292024C>T	ENSP00000300896:p.Arg660His	NA	Q9BX85|Q9Y591	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530108	0.96446	.	.	ENSG00000170832	ENST00000300896	T	0.50001	0.76	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.48642	1.525	0.80722	D	1	P	0.50617	0.937	B	0.41440	0.357	T	0.49113	-0.8973	10	0.49607	T	0.09	.	19.155	0.93506	0.0:1.0:0.0:0.0	.	660	Q8NFA0	UBP32_HUMAN	H	660	ENSP00000300896:R660H	ENSP00000300896:R660H	R	-	2	0	USP32	55646806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.539000	0.85634	0.650000	0.86243	CGC	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449235.2		-	ENST00000300896.4	Missense_Mutation	SNP	17 : 58292024 - 58292024 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	369	7
ZNF208	7757	broad.mit.edu	37	19	22171675	22171675	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:22171675A>T	ENST00000397126.4	-	2	188	c.40T>A	c.(40-42)Tct>Act	p.S14T	ZNF208_ENST00000601773.1_Missense_Mutation_p.S14T|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.S14T	NM_007153.3	NP_009084.2			zinc finger protein 208	NA										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCCTCCAGAGAGAATTCTATG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	131	128			NA	NA	19		NA											NA				22171675		2203	4300	6503	SO:0001583	missense			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321	7757	7757		Zinc fingers, C2H2-type, -	12999	protein-coding gene	gene with protein product	zinc finger protein 95	603977			NA	9724325	Standard	NM_007153	NM_007153	NA	Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.40T>A	19.37:g.22171675A>T	ENSP00000380315:p.Ser14Thr	NA		37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	3.819	-0.038200	0.07497	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.01484	4.84	1.32	-0.168	0.13343	Krueppel-associated box (4);	.	.	.	.	T	0.02304	0.0071	.	.	.	0.09310	N	1	D;P	0.63046	0.992;0.876	P;P	0.60012	0.867;0.652	T	0.27640	-1.0068	8	0.07175	T	0.84	.	3.607	0.08046	0.3597:0.0:0.0:0.6403	.	14;14	O43345;F8WEA0	ZN208_HUMAN;.	T	14	ENSP00000380315:S14T	ENSP00000380315:S14T	S	-	1	0	ZNF208	21963515	0.002000	0.14202	0.009000	0.14445	0.641000	0.38312	-0.021000	0.12504	-0.610000	0.05716	0.234000	0.17832	TCT	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464302.1		-	ENST00000397126.4	Missense_Mutation	SNP	19 : 22171675 - 22171675 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	748	16
ZNF430	80264	broad.mit.edu	37	19	21239860	21239860	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:21239860C>T	ENST00000261560.5	+	5	927	c.746C>T	c.(745-747)aCt>aTt	p.T249I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAACCCTTACTAGACACAGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	58	57			NA	NA	19		NA											NA				21239860		2203	4300	6503	SO:0001583	missense			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620	80264	80264		Zinc fingers, C2H2-type, -	20808	protein-coding gene	gene with protein product					NA		Standard	NM_025189	NM_025189	NA	Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.746C>T	19.37:g.21239860C>T	ENSP00000261560:p.Thr249Ile	NA	Q86V70	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	3.684	-0.064825	0.07273	.	.	ENSG00000118620	ENST00000261560	T	0.33865	1.39	1.04	-0.123	0.13527	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26195	0.0639	N	0.12471	0.22	0.09310	N	1	D;P	0.56968	0.978;0.723	P;B	0.53760	0.734;0.41	T	0.12915	-1.0529	9	0.38643	T	0.18	.	4.5907	0.12306	0.0:0.5789:0.0:0.4211	.	248;249	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	249	ENSP00000261560:T249I	ENSP00000261560:T249I	T	+	2	0	ZNF430	21031700	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	-3.561000	0.00430	0.452000	0.26830	0.455000	0.32223	ACT	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463539.1		+	ENST00000261560.5	Missense_Mutation	SNP	19 : 21239860 - 21239860 T PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	289	9
ZNF561	93134	broad.mit.edu	37	19	9721440	9721440	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:9721440G>A	ENST00000424629.1	-	5	980	c.690C>T	c.(688-690)caC>caT	p.H230H	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000302851.3_Silent_p.H299H|ZNF561_ENST00000354661.4_Silent_p.H163H			Q8N587	ZN561_HUMAN	zinc finger protein 561	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GAATTTGAATGTGATCATTAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	108	110			NA	NA	19		NA											NA				9721440		2203	4300	6503	SO:0001819	synonymous_variant			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469	93134	93134		Zinc fingers, C2H2-type, -	28684	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152289	NM_152289	NA	Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000424629.1:c.690C>T	19.37:g.9721440G>A		NA	Q6PJS0	37																																																																																				ZNF561-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347358.1		-	ENST00000424629.1	Silent	SNP	19 : 9721440 - 9721440 A PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	646	25
ZNF616	90317	broad.mit.edu	37	19	52619638	52619638	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:52619638T>C	ENST00000600228.1	-	4	1040	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTGACTCCTTTGGTGTCTTAC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	19		NA											NA				52619638		2203	4300	6503	SO:0001583	missense			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611	90317	90317		Zinc fingers, C2H2-type, -	28062	protein-coding gene	gene with protein product					NA		Standard	XM_030892	NM_178523	NA	Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.779A>G	19.37:g.52619638T>C	ENSP00000471000:p.Gln260Arg	NA	B3KRV1|Q0P658|Q658V7	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	9.538	1.112700	0.20795	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.954	-0.118	0.13547	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25457	0.0619	L	0.28344	0.845	0.09310	N	1	B	0.27594	0.182	B	0.28638	0.092	T	0.20874	-1.0262	8	0.35671	T	0.21	.	4.2259	0.10580	0.0:0.2336:0.0:0.7664	.	260	Q08AN1	ZN616_HUMAN	R	260	.	ENSP00000328722:Q260R	Q	-	2	0	ZNF616	57311450	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	-0.069000	0.11542	-0.101000	0.12219	0.254000	0.18369	CAA	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462451.1		-	ENST00000600228.1	Missense_Mutation	SNP	19 : 52619638 - 52619638 C PAAD-TCGA-FB-A4P5-Tumor-SM-47KKM	499	19
