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
ABCB1	5243	broad.mit.edu	37	7	87178760	87178760	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:87178760A>G	ENST00000265724.3	-	15	2046	c.1629T>C	c.(1627-1629)cgT>cgC	p.R543R	ABCB1_ENST00000543898.1_Silent_p.R479R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	543	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GAACCAGGGCACGTGCAATGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	113	121			NA	NA	7		NA											NA				87178760		2203	4300	6503	SO:0001819	synonymous_variant			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563	5243	5243		CD molecules, ATP binding cassette transporters / subfamily B	40	protein-coding gene	gene with protein product	multidrug resistance protein 1	171050	colchicin sensitivity	PGY1, MDR1, CLCS	NA	3027054	Standard	NM_000927	NM_000927	NA	Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1629T>C	7.37:g.87178760A>G		NA	A8K294|Q12755|Q14812	37	CCDS5608.1																																																																																			ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335444.2		-	ENST00000265724.3	Silent	SNP	7 : 87178760 - 87178760 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	411	79
ADAMTS10	81794	broad.mit.edu	37	19	8661292	8661292	+	Silent	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:8661292C>A	ENST00000597188.1	-	10	1359	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	ADAMTS10_ENST00000270328.4_Silent_p.L363L	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	363	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCGGGGCCAGGCCTGGGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	32	33			NA	NA	19		NA											NA				8661292		2203	4300	6503	SO:0001819	synonymous_variant			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303	81794	81794		ADAM metallopeptidases with thrombospondin type 1 motif	13201	protein-coding gene	gene with protein product		608990	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10		NA		Standard	NM_030957	XM_005272499	NA	Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1089G>T	19.37:g.8661292C>A		NA		37	CCDS12206.1																																																																																			ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460085.3		-	ENST00000597188.1	Silent	SNP	19 : 8661292 - 8661292 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	174	17
ADPGK	83440	broad.mit.edu	37	15	73045100	73045100	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:73045100A>G	ENST00000311669.8	-	7	1166	c.1073T>C	c.(1072-1074)cTc>cCc	p.L358P	ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	359	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GATCCAGAAGAGGATGTCACT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	15		NA											NA				73045100		2005	4174	6179	SO:0001583	missense			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322	83440	83440			25250	protein-coding gene	gene with protein product		611861			NA	11230166	Standard	NM_031284	NM_031284	NA	Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1073T>C	15.37:g.73045100A>G	ENSP00000312250:p.Leu358Pro	NA	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	37	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738815	0.89573	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.52057	0.68;0.68	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.996;0.996	T	0.74359	-0.3691	10	0.87932	D	0	-27.9599	16.5446	0.84426	1.0:0.0:0.0:0.0	.	301;359;358;84	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	P	358;278;84;237	ENSP00000312250:L358P;ENSP00000397694:L84P	ENSP00000312250:L358P	L	-	2	0	ADPGK	70832153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.311000	0.77944	0.533000	0.62120	CTC	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420434.1		-	ENST00000311669.8	Missense_Mutation	SNP	15 : 73045100 - 73045100 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	542	98
ANKRD13D	338692	broad.mit.edu	37	11	67067334	67067334	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67067334C>T	ENST00000447274.2	+	9	1831	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	219										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGGGATGGCGCAGCAGCAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	11		NA											NA				67067334		2200	4295	6495	SO:0001583	missense			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932	338692	338692		Ankyrin repeat domain containing	27880	protein-coding gene	gene with protein product		615126			NA		Standard	NM_207354	NM_207354	NA	Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.656C>T	11.37:g.67067334C>T	ENSP00000402616:p.Ala219Val	NA	Q0VAK0|Q6ZVD0|Q86SU1	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312689	0.60414	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000004	T	0.42966	0.1226	L	0.41079	1.255	0.80722	D	1	D;D	0.56746	0.977;0.973	P;P	0.50537	0.56;0.643	T	0.15694	-1.0428	10	0.15066	T	0.55	-19.9301	17.0487	0.86511	0.0:1.0:0.0:0.0	.	306;219	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	V	219;306;219;219	ENSP00000402616:A219V;ENSP00000427130:A306V;ENSP00000310874:A219V;ENSP00000444404:A219V	ENSP00000310874:A219V	A	+	2	0	ANKRD13D	66823910	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.355000	0.79434	2.351000	0.79841	0.313000	0.20887	GCG	ANKRD13D-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000371067.2		+	ENST00000447274.2	Missense_Mutation	SNP	11 : 67067334 - 67067334 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	385	34
ARHGAP15	55843	broad.mit.edu	37	2	143959733	143959733	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:143959733C>T	ENST00000409869.1	+	4	373	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H66Y			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	66					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCATTCACAGCATATCTTGAA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	120	120			NA	NA	2		NA											NA				143959733		2203	4300	6503	SO:0001583	missense			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884	55843	55843		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	21030	protein-coding gene	gene with protein product		610578			NA	12650940, 11042152	Standard	NM_018460	NM_018460	NA	Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000409869.1:c.196C>T	2.37:g.143959733C>T	ENSP00000386560:p.His66Tyr	NA	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	37		.	.	.	.	.	.	.	.	.	.	C	18.33	3.600439	0.66332	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08102	3.13	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.34521	1.04	0.41455	D	0.988008	D;B	0.76494	0.999;0.355	D;B	0.83275	0.996;0.046	T	0.09487	-1.0672	10	0.10636	T	0.68	.	17.8083	0.88608	0.0:1.0:0.0:0.0	.	66;66	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Y	66	ENSP00000295095:H66Y	ENSP00000295095:H66Y	H	+	1	0	ARHGAP15	143676203	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.000000	0.63940	2.646000	0.89796	0.585000	0.79938	CAT	ARHGAP15-002	PUTATIVE	not_organism_supported|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000332175.1		+	ENST00000409869.1	Missense_Mutation	SNP	2 : 143959733 - 143959733 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	387	76
ARID2	196528	broad.mit.edu	37	12	46245520	46245520	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:46245520G>C	ENST00000334344.6	+	15	3786	c.3614G>C	c.(3613-3615)gGa>gCa	p.G1205A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A|ARID2_ENST00000444670.1_Missense_Mutation_p.G815A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1205					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCATGAGCGGAACGCAGACA	0.483		NA	N, S, F		hepatocellular carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													69	64	66			NA	NA	12		NA											NA				46245520		2203	4300	6503	SO:0001583	missense				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079	196528	196528		-	18037	protein-coding gene	gene with protein product		609539			NA		Standard	XM_350875	NM_152641	NA	Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3614G>C	12.37:g.46245520G>C	ENSP00000335044:p.Gly1205Ala	NA	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	5.049	0.194686	0.09599	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.33865	1.39	6.17	6.17	0.99709	.	0.101926	0.64402	D	0.000003	T	0.32010	0.0815	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46859	0.885;0.885;0.817	P;P;B	0.45753	0.492;0.492;0.23	T	0.02813	-1.1107	10	0.06099	T	0.92	-8.32	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1205;815;1205	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1205;322;322;1056;815	ENSP00000335044:G1205A	ENSP00000335044:G1205A	G	+	2	0	ARID2	44531787	1.000000	0.71417	0.869000	0.34112	0.004000	0.04260	7.071000	0.76770	2.941000	0.99782	0.655000	0.94253	GGA	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318380.2		+	ENST00000334344.6	Missense_Mutation	SNP	12 : 46245520 - 46245520 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	257	50
BCAM	4059	broad.mit.edu	37	19	45315574	45315574	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:45315574A>C	ENST00000589651.1	+	3	413	c.359A>C	c.(358-360)gAg>gCg	p.E120A	BCAM_ENST00000270233.6_Missense_Mutation_p.E120A			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	NA	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGGGCGACGAGCGAGACTAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	27			NA	NA	19		NA											NA				45315574		2203	4298	6501	SO:0001583	missense			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244	4059	4059		CD molecules, Blood group antigens, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6722	protein-coding gene	gene with protein product		612773	Lutheran blood group (Auberger b antigen included), basal cell adhesion molecule (Lu and Au blood groups)	LU	NA		Standard	NM_005581	NM_005581	NA	Approved	CD239	uc002ozu.4	P50895		ENST00000589651.1:c.359A>C	19.37:g.45315574A>C	ENSP00000476710:p.Glu120Ala	NA	A8MYF9|A9YWT5|A9YWT6|Q86VC7	37	CCDS42575.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.245746	0.22796	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.26223	1.75;1.75	3.43	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21761	0.0524	L	0.29908	0.895	0.27355	N	0.95613	P	0.36874	0.572	B	0.43754	0.43	T	0.16012	-1.0417	9	0.42905	T	0.14	-14.82	5.7766	0.18283	0.8682:0.0:0.1318:0.0	.	120	P50895	BCAM_HUMAN	A	120	ENSP00000270233:E120A;ENSP00000375817:E120A	ENSP00000270233:E120A	E	+	2	0	BCAM	50007414	1.000000	0.71417	0.691000	0.30163	0.294000	0.27393	1.634000	0.37123	0.456000	0.26937	0.260000	0.18958	GAG	BCAM-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453219.2		+	ENST00000589651.1	Missense_Mutation	SNP	19 : 45315574 - 45315574 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	246	13
BCL11A	53335	broad.mit.edu	37	2	60688255	60688255	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:60688255C>A	ENST00000335712.6	-	4	2019	c.1792G>T	c.(1792-1794)Gac>Tac	p.D598Y	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	598					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCCATCGTCTATGCGGTCC	0.697		NA	T	IGH@	B-CLL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													20	24	23			NA	NA	2		NA											NA				60688255		2184	4277	6461	SO:0001583	missense			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866	53335	53335		Zinc fingers, C2H2-type	13221	protein-coding gene	gene with protein product		606557	ecotropic viral integration site 9	EVI9	NA	11719382, 18245381	Standard	NM_022893	NM_018014	NA	Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1792G>T	2.37:g.60688255C>A	ENSP00000338774:p.Asp598Tyr	NA	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952165	0.34471	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09163	3.01;3.33;3.2;3.32;3.27	6.01	6.01	0.97437	.	0.234402	0.42172	D	0.000755	T	0.17662	0.0424	L	0.40543	1.245	0.58432	D	0.999994	P;P;P;P;P	0.50710	0.923;0.894;0.763;0.938;0.895	B;B;P;B;P	0.47430	0.442;0.367;0.447;0.328;0.547	T	0.00055	-1.2179	10	0.62326	D	0.03	-3.9852	20.5211	0.99222	0.0:1.0:0.0:0.0	.	564;267;564;598;598	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	Y	598;623;564;267;598;564	ENSP00000349300:D598Y;ENSP00000438303:D564Y;ENSP00000443712:D267Y;ENSP00000338774:D598Y;ENSP00000351307:D564Y	ENSP00000338774:D598Y	D	-	1	0	BCL11A	60541759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	2.861000	0.98227	0.650000	0.86243	GAC	BCL11A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251579.2		-	ENST00000335712.6	Missense_Mutation	SNP	2 : 60688255 - 60688255 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	257	39
BRD4	23476	broad.mit.edu	37	19	15354198	15354198	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:15354198C>G	ENST00000263377.2	-	14	2903	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	894					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTGTTTGGGTCAAGGCTGGTG	0.682		NA	T	C15orf55	lethal midline carcinoma of young people									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													9	11	11			NA	NA	19		NA											NA				15354198		2173	4280	6453	SO:0001583	missense			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	23476	23476			13575	protein-coding gene	gene with protein product	chromosome-associated protein	608749	bromodomain-containing 4		NA	10938129	Standard	NM_058243	NM_058243	NA	Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2682G>C	19.37:g.15354198C>G	ENSP00000263377:p.Leu894Phe	NA	O60433|Q86YS8|Q96PD3	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	3.540	-0.093932	0.07053	.	.	ENSG00000141867	ENST00000263377	T	0.36157	1.27	4.34	3.26	0.37387	.	0.000000	0.36002	N	0.002844	T	0.32164	0.0820	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.08229	-1.0732	10	0.56958	D	0.05	-13.9508	5.6884	0.17815	0.3:0.4573:0.2427:0.0	.	894	O60885	BRD4_HUMAN	F	894	ENSP00000263377:L894F	ENSP00000263377:L894F	L	-	3	2	BRD4	15215198	0.998000	0.40836	0.826000	0.32828	0.102000	0.19082	0.756000	0.26419	1.945000	0.56424	0.556000	0.70494	TTG	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465800.3		-	ENST00000263377.2	Missense_Mutation	SNP	19 : 15354198 - 15354198 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	75	5
BSX	390259	broad.mit.edu	37	11	122850021	122850021	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:122850021G>C	ENST00000343035.2	-	2	455	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	136										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TTCTGGCGTGGACAGGTAGCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	74	70			NA	NA	11		NA											NA				122850021		2080	4203	6283	SO:0001583	missense				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909	390259	390259		Homeoboxes / ANTP class : NKL subclass	20450	protein-coding gene	gene with protein product		611074			NA		Standard	NM_001098169	NM_001098169	NA	Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.407C>G	11.37:g.122850021G>C	ENSP00000344285:p.Ser136Cys	NA		37	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604204	0.87157	.	.	ENSG00000188909	ENST00000343035	D	0.96522	-4.04	5.22	4.25	0.50352	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.053098	0.85682	D	0.000000	D	0.97632	0.9224	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96636	0.9470	10	0.25751	T	0.34	.	15.2252	0.73345	0.0:0.1409:0.8591:0.0	.	136	Q3C1V8	BSH_HUMAN	C	136	ENSP00000344285:S136C	ENSP00000344285:S136C	S	-	2	0	BSX	122355231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.525000	0.73795	2.454000	0.82982	0.655000	0.94253	TCC	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317076.1		-	ENST00000343035.2	Missense_Mutation	SNP	11 : 122850021 - 122850021 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	559	26
C17orf47	284083	broad.mit.edu	37	17	56620313	56620313	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:56620313G>T	ENST00000321691.3	-	1	1416	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	412										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGAGGCAAGGGCCTAGGGGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	132	134			NA	NA	17		NA											NA				56620313		2203	4300	6503	SO:0001583	missense				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013	284083	284083			26844	protein-coding gene	gene with protein product					NA		Standard	NM_001038704	NM_001038704	NA	Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1235C>A	17.37:g.56620313G>T	ENSP00000354874:p.Pro412His	NA	Q8N821	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832788	0.71258	.	.	ENSG00000181013	ENST00000321691	T	0.66099	-0.19	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000006	T	0.70996	0.3288	L	0.34521	1.04	0.39463	D	0.967593	D	0.89917	1.0	D	0.97110	1.0	T	0.74234	-0.3731	10	0.87932	D	0	-15.4301	15.5506	0.76148	0.0:0.0:1.0:0.0	.	412	Q8NEP4	CQ047_HUMAN	H	412	ENSP00000354874:P412H	ENSP00000354874:P412H	P	-	2	0	C17orf47	53975312	0.999000	0.42202	1.000000	0.80357	0.769000	0.43574	3.256000	0.51492	2.739000	0.93911	0.561000	0.74099	CCC	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445443.1		-	ENST00000321691.3	Missense_Mutation	SNP	17 : 56620313 - 56620313 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	567	58
C19orf59	0	broad.mit.edu	37	19	7743463	7743463	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:7743463A>G	ENST00000333598.3	+	5	914	c.460A>G	c.(460-462)Att>Gtt	p.I154V	CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G|C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		154						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAGGAGCAAGATTGATAGATT	0.522		NA									OREG0025208	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													140	137	138			NA	NA	19		NA											NA				7743463		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000333598.3:c.460A>G	19.37:g.7743463A>G	ENSP00000329920:p.Ile154Val	644	Q8IX20	37	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159286	0.01686	.	.	ENSG00000183019	ENST00000333598	T	0.25749	1.78	2.97	-1.59	0.08453	.	1.091820	0.07270	N	0.868924	T	0.08758	0.0217	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37384	-0.9708	10	0.09590	T	0.72	-3.8449	7.6052	0.28097	0.6562:0.0:0.3438:0.0	.	154	Q8IX19	MCEM1_HUMAN	V	154	ENSP00000329920:I154V	ENSP00000329920:I154V	I	+	1	0	C19orf59	7649463	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.282000	0.08445	-0.582000	0.05929	-0.119000	0.15052	ATT	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461248.1		+	ENST00000333598.3	Missense_Mutation	SNP	19 : 7743463 - 7743463 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	318	49
C1QL3	389941	broad.mit.edu	37	10	16562659	16562659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:16562659G>A	ENST00000298943.3	-	1	1345	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	136	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTCATGCTGCCGCTTGAGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	106	113			NA	NA	10		NA											NA				16562659		2203	4300	6503	SO:0001587	stop_gained				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985	389941	389941			19359	protein-coding gene	gene with protein product		615227			NA	21378161	Standard	XM_372305	NM_001010908	NA	Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.406C>T	10.37:g.16562659G>A	ENSP00000298943:p.Gln136*	NA	A0PJY4|A0PJY5	37	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	44	10.640110	0.99442	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	.	.	.	3.56	3.56	0.40772	.	0.194179	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.3	0.73940	0.0:0.0:1.0:0.0	.	.	.	.	X	136;113	.	ENSP00000298943:Q136X	Q	-	1	0	C1QL3	16602665	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	7.685000	0.84117	1.992000	0.58205	0.637000	0.83480	CAG	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047003.1		-	ENST00000298943.3	Nonsense_Mutation	SNP	10 : 16562659 - 16562659 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	318	12
C1orf162	128346	broad.mit.edu	37	1	112020662	112020662	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:112020662G>A	ENST00000343534.5	+	6	635	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	129						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAACTCTCAGAAGAAAAGAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	99	100			NA	NA	1		NA											NA				112020662		2203	4300	6503	SO:0001583	missense			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110	128346	128346			28344	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_174896	XM_005270475	NA	Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.385G>A	1.37:g.112020662G>A	ENSP00000344218:p.Glu129Lys	NA	Q5QNZ1	37	CCDS837.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790336	0.70337	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.96168	-3.93;-3.93	5.33	2.41	0.29592	.	0.433811	0.19760	N	0.106688	T	0.80849	0.4702	N	0.20986	0.625	0.09310	N	1	P	0.36144	0.539	B	0.33799	0.17	T	0.74064	-0.3785	10	0.39692	T	0.17	-7.762	5.2195	0.15362	0.181:0.169:0.65:0.0	.	129	Q8NEQ5	CA162_HUMAN	K	129;104	ENSP00000344218:E129K;ENSP00000358732:E104K	ENSP00000344218:E129K	E	+	1	0	C1orf162	111822185	0.001000	0.12720	0.017000	0.16124	0.172000	0.22775	0.239000	0.18023	0.365000	0.24400	0.655000	0.94253	GAA	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032471.1		+	ENST00000343534.5	Missense_Mutation	SNP	1 : 112020662 - 112020662 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	455	77
CACNA1C	775	broad.mit.edu	37	12	2760901	2760901	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:2760901G>C	ENST00000399655.1	+	32	4306	c.4041G>C	c.(4039-4041)cgG>cgC	p.R1347R	CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000347598.4_Silent_p.R1395R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000406454.3_Silent_p.R1347R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000402845.3_Silent_p.R1347R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000399601.1_Silent_p.R1347R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGGCATCCGGACGCTGCTGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	60	57			NA	NA	12		NA											NA				2760901		2200	4299	6499	SO:0001819	synonymous_variant			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.4041G>C	12.37:g.2760901G>C		NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1																																																																																			CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Silent	SNP	12 : 2760901 - 2760901 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	263	40
CC2D2A	57545	broad.mit.edu	37	4	15572024	15572024	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:15572024G>T	ENST00000503292.1	+	29	3679	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D1167Y	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1167	C2.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCTTTAGGATGACCGTGAAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	64			NA	NA	4		NA											NA				15572024		1865	4113	5978	SO:0001583	missense			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342	57545	57545			29253	protein-coding gene	gene with protein product	Meckel syndrome, type 6	612013			NA	10718198, 18513680	Standard	NM_001080522	NM_001080522	NA	Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3499G>T	4.37:g.15572024G>T	ENSP00000421809:p.Asp1167Tyr	NA	A6ND97|B3FW08|Q3SYP3|Q9H8A7	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820380	0.71028	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.85861	-2.0;-2.0;-2.0;-2.04	5.65	4.81	0.61882	C2 calcium-dependent membrane targeting (1);	0.108853	0.64402	D	0.000008	D	0.90235	0.6947	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89006	0.3425	10	0.36615	T	0.2	.	11.7426	0.51801	0.1419:0.0:0.8581:0.0	.	1167;1118	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Y	1167;1167;1118;1118;1167;1118	ENSP00000403465:D1167Y;ENSP00000398391:D1167Y;ENSP00000421809:D1167Y;ENSP00000374303:D1118Y	ENSP00000374303:D1118Y	D	+	1	0	CC2D2A	15181122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.179000	0.71974	1.390000	0.46547	0.561000	0.74099	GAC	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359906.2		+	ENST00000503292.1	Missense_Mutation	SNP	4 : 15572024 - 15572024 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	54	11
CCDC6	8030	broad.mit.edu	37	10	61552865	61552865	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:61552865G>A	ENST00000263102.6	-	9	1466	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	412						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCGTGGTGAAGGCCTCTGCAG	0.562		NA	T	RET	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													114	110	111			NA	NA	10		NA											NA				61552865		2203	4300	6503	SO:0001583	missense			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091	8030	8030			18782	protein-coding gene	gene with protein product	DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1	601985	DNA segment on chromosome 10 (unique) 170	TST1, D10S170	NA	8058316, 6745938	Standard	NM_005436	NM_005436	NA	Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1235C>T	10.37:g.61552865G>A	ENSP00000263102:p.Pro412Leu	NA	Q15250|Q6GSG7	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166263	0.57476	.	.	ENSG00000108091	ENST00000263102	T	0.52754	0.65	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.67803	-0.5576	10	0.72032	D	0.01	-10.9482	19.4045	0.94643	0.0:0.0:1.0:0.0	.	412	Q16204	CCDC6_HUMAN	L	412	ENSP00000263102:P412L	ENSP00000263102:P412L	P	-	2	0	CCDC6	61222871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.637000	0.89404	0.563000	0.77884	CCT	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048176.2		-	ENST00000263102.6	Missense_Mutation	SNP	10 : 61552865 - 61552865 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	187	23
CD58	965	broad.mit.edu	37	1	117087113	117087113	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:117087113T>C	ENST00000457047.2	-	2	237	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CD58_ENST00000369487.3_Missense_Mutation_p.K62E|CD58_ENST00000369489.5_Missense_Mutation_p.K62E	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	62					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCTGCAACTTTATCCTTTTGT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	1		NA											NA				117087113		2203	4300	6503	SO:0001583	missense			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815	965	965		CD molecules	1688	protein-coding gene	gene with protein product		153420	CD58 antigen, (lymphocyte function-associated antigen 3)	LFA3	NA	9510189	Standard	NM_001779	NM_001144822	NA	Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000457047.2:c.184A>G	1.37:g.117087113T>C	ENSP00000409080:p.Lys62Glu	NA	A8K7G5|Q5U053|Q6IB65|Q96KI9	37	CCDS44199.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436430	0.62955	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	3.86	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.138000	0.06498	N	0.735875	T	0.28433	0.0703	L	0.58810	1.83	0.25688	N	0.985724	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.985;0.994	T	0.12528	-1.0544	10	0.56958	D	0.05	-31.9159	9.2366	0.37470	0.0:0.0:0.0:1.0	.	62;62;62	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	E	62;62;34;62	ENSP00000358501:K62E;ENSP00000409080:K62E;ENSP00000433648:K34E;ENSP00000358499:K62E	ENSP00000358499:K62E	K	-	1	0	CD58	116888636	0.934000	0.31675	0.828000	0.32881	0.100000	0.18952	1.517000	0.35867	1.740000	0.51718	0.459000	0.35465	AAA	CD58-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387905.1		-	ENST00000457047.2	Missense_Mutation	SNP	1 : 117087113 - 117087113 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	226	45
CELA3A	10136	broad.mit.edu	37	1	22331987	22331987	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:22331987C>T	ENST00000290122.3	+	3	196	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CELA3A_ENST00000374663.1_Silent_p.G59G	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACACGTGTGGCGGTAGCCTCA	0.622		NA									OREG0013211	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													89	103	98			NA	NA	1		NA											NA				22331987		2197	4300	6497	SO:0001819	synonymous_variant			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789	10136	10136			15944	protein-coding gene	gene with protein product	protease E		elastase 3A, pancreatic (protease E), elastase 3A, pancreatic	ELA3A	NA	2826474, 2460440	Standard	NM_005747	NM_005747	NA	Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.177C>T	1.37:g.22331987C>T		755		37	CCDS220.1																																																																																			CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007791.1		+	ENST00000290122.3	Silent	SNP	1 : 22331987 - 22331987 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	504	51
CHD4	1108	broad.mit.edu	37	12	6692545	6692545	+	Splice_Site	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:6692545C>A	ENST00000544484.1	-	26	4017		c.e26-1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000540960.1_Intron|CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000357008.2_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	NA					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTCTTCCTCCTGGGACAGAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(32;586 792 4568 16848 45314)							NA				0													122	120	121			NA	NA	12		NA											NA				6692545		2203	4300	6503	SO:0001630	splice_region_variant			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642	1108	1108		Zinc fingers, PHD-type	1919	protein-coding gene	gene with protein product		603277			NA	7575689, 8843877	Standard	NM_001273	XM_006718958	NA	Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000544484.1:c.3871-1G>T	12.37:g.6692545C>A		NA	Q8IXZ5	37		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388725	0.61956	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6562806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.733000	0.68571	2.832000	0.97577	0.655000	0.94253	.	CHD4-013	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000402631.1	Intron	-	ENST00000544484.1	Splice_Site	SNP	12 : 6692545 - 6692545 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	660	24
CHRNB2	1141	broad.mit.edu	37	1	154544140	154544140	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154544140C>G	ENST00000368476.3	+	5	1105	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	281					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GGTCTTCCTGCTGCTCATCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	181	202			NA	NA	1		NA											NA				154544140		2203	4300	6503	SO:0001583	missense			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716	1141	1141		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1962	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, beta 2 (neuronal)	118507	cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)		NA	1505988	Standard	NM_000748	NM_000748	NA	Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.841C>G	1.37:g.154544140C>G	ENSP00000357461:p.Leu281Val	NA	Q9UEH9	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549775	0.65311	.	.	ENSG00000160716	ENST00000368476	D	0.87571	-2.27	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.95085	0.8408	H	0.96015	3.755	0.58432	D	0.999999	D	0.64830	0.994	D	0.85130	0.997	D	0.96704	0.9520	10	0.87932	D	0	.	15.8078	0.78527	0.0:1.0:0.0:0.0	.	281	P17787	ACHB2_HUMAN	V	281	ENSP00000357461:L281V	ENSP00000357461:L281V	L	+	1	2	CHRNB2	152810764	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.888000	0.56204	2.024000	0.59613	0.313000	0.20887	CTG	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090697.1		+	ENST00000368476.3	Missense_Mutation	SNP	1 : 154544140 - 154544140 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	772	79
CLCN2	1181	broad.mit.edu	37	3	184079221	184079221	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:184079221T>G	ENST00000434054.2	-	1	170	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|CLCN2_ENST00000265593.4_Missense_Mutation_p.Q16P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR	NM_001171088.2	NP_001164559.1	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCTCGTACTGCAGCGCCCG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	3		NA											NA				184079221		2203	4300	6503	SO:0001583	missense			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859	1181	1181		Ion channels / Chloride channels : Voltage-sensitive	2020	protein-coding gene	gene with protein product		600570	chloride channel 2		NA	7795595	Standard		NM_004366	NA	Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000434054.2:c.47A>C	3.37:g.184079221T>G	ENSP00000400425:p.Gln16Pro	NA	O14864|Q6IPA9|Q8WU13	37	CCDS54690.1	.	.	.	.	.	.	.	.	.	.	N	10.09	1.254718	0.22965	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	3.81	3.81	0.43845	.	0.245968	0.25741	N	0.028603	T	0.78027	0.4219	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.25105	0.046;0.072;0.072;0.118;0.072	B;B;B;B;B	0.28232	0.026;0.054;0.087;0.079;0.054	T	0.74748	-0.3560	10	0.44086	T	0.13	-14.9975	9.2202	0.37373	0.0:0.0:0.0:1.0	.	16;16;16;16;16	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	16	ENSP00000265593:Q16P;ENSP00000345056:Q16P;ENSP00000400425:Q16P;ENSP00000391928:Q16P	ENSP00000265593:Q16P	Q	-	2	0	CLCN2	185561915	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	2.573000	0.46007	1.742000	0.51746	0.370000	0.22315	CAG	CLCN2-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345573.1		-	ENST00000434054.2	Missense_Mutation	SNP	3 : 184079221 - 184079221 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	415	51
COCH	1690	broad.mit.edu	37	14	31355263	31355270	+	Frame_Shift_Del	DEL	GCTGTACA	GCTGTACA	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	GCTGTACA	GCTGTACA	-	-	GCTGTACA	GCTGTACA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:31355263_31355270delGCTGTACA	ENST00000460581.2	+	9	1432_1439	c.886_893delGCTGTACA	c.(886-894)gctgtacagfs	p.AVQ296fs	COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000396618.3_Frame_Shift_Del_p.AVQ408fs|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs			O43405	COCH_HUMAN	cochlin	408	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CAAGATAGCTGCTGTACAGTTTACTTAT	0.442		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473	1690	1690			2180	protein-coding gene	gene with protein product		603196	coagulation factor C (Limulus polyphemus homolog); cochlin, coagulation factor C homolog, cochlin (Limulus polyphemus)	DFNA31, DFNA9	NA	9806553	Standard	NM_004086	NM_004086	NA	Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000460581.2:c.886_893delGCTGTACA	14.37:g.31355263_31355270delGCTGTACA	ENSP00000451713:p.Ala296fs	NA	A8K9K9|D3DS84	37																																																																																				COCH-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409705.1		+	ENST00000460581.2	Frame_Shift_Del	DEL	14 : 31355263 - 31355270 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	417	38
COL1A1	1277	broad.mit.edu	37	17	48263999	48263999	+	Splice_Site	SNP	A	A	T	rs112830882		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:48263999A>T	ENST00000225964.5	-	48	3933		c.e48+1			NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	NA					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCAGGCCCTCACCACTCTTCC	0.637		NA	T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0													63	71	68			NA	NA	17		NA											NA				48263999		2203	4300	6503	SO:0001630	splice_region_variant			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821	1277	1277		Collagens	2197	protein-coding gene	gene with protein product		120150			NA	3178743, 2857713	Standard		NM_000088	NA	Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3814+1T>A	17.37:g.48263999A>T		NA	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274012	0.59649	.	.	ENSG00000108821	ENST00000225964	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.885	0.52598	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL1A1	45618998	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.921000	0.92784	1.630000	0.50440	0.260000	0.18958	.	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309036.2	Intron	-	ENST00000225964.5	Splice_Site	SNP	17 : 48263999 - 48263999 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	656	84
COL1A1	1277	broad.mit.edu	37	17	48264484	48264484	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:48264484C>T	ENST00000225964.5	-	47	3542		c.e47-1			NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	NA					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGGGGGACCCTGGAGTGGGG	0.657		NA	T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0			GRCh37	CS090269	COL1A1	S							19	22	21			NA	NA	17		NA											NA				48264484		2201	4299	6500	SO:0001630	splice_region_variant			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821	1277	1277		Collagens	2197	protein-coding gene	gene with protein product		120150			NA	3178743, 2857713	Standard		NM_000088	NA	Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3424-1G>A	17.37:g.48264484C>T		NA	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449682	0.63290	.	.	ENSG00000108821	ENST00000225964	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7392	0.69440	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL1A1	45619483	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	7.604000	0.82830	2.051000	0.60960	0.462000	0.41574	.	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309036.2	Intron	-	ENST00000225964.5	Splice_Site	SNP	17 : 48264484 - 48264484 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	81	10
COMMD8	54951	broad.mit.edu	37	4	47462175	47462175	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:47462175A>C	ENST00000381571.4	-	2	275	c.208T>G	c.(208-210)Tta>Gta	p.L70V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	70							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						TCATCAGGTAAGTTTTTACCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	106	105			NA	NA	4		NA											NA				47462175		2203	4300	6503	SO:0001583	missense			AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019	54951	54951			26036	protein-coding gene	gene with protein product					NA	15799966	Standard	NM_017845	NM_017845	NA	Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.208T>G	4.37:g.47462175A>C	ENSP00000370984:p.Leu70Val	NA	Q8WUR4|Q9HC15	37	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	A	1.293	-0.606993	0.03717	.	.	ENSG00000169019	ENST00000381571	T	0.09163	3.01	5.48	-0.28	0.12886	.	0.649849	0.15783	N	0.244813	T	0.03827	0.0108	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.41980	-0.9478	10	0.02654	T	1	-13.9887	1.6707	0.02811	0.3234:0.3696:0.1699:0.137	.	70	Q9NX08	COMD8_HUMAN	V	70	ENSP00000370984:L70V	ENSP00000370984:L70V	L	-	1	2	COMMD8	47156932	0.001000	0.12720	0.986000	0.45419	0.274000	0.26718	-0.138000	0.10374	0.352000	0.24053	-0.346000	0.07831	TTA	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216898.2		-	ENST00000381571.4	Missense_Mutation	SNP	4 : 47462175 - 47462175 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	539	67
CRB1	23418	broad.mit.edu	37	1	197404147	197404147	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:197404147C>G	ENST00000367399.2	+	7	2818	c.2818C>G	c.(2818-2820)Caa>Gaa	p.Q940E	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1052E|CRB1_ENST00000367397.1_Missense_Mutation_p.Q433E|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E|CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E	NM_001193640.1	NP_001180569.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1052	EGF-like 14.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCAGGTGGCAAATGGAAGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	1		NA											NA				197404147		2203	4300	6503	SO:0001583	missense				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376	23418	23418			2343	protein-coding gene	gene with protein product		604210	crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila)	RP12	NA	10373321, 10508521	Standard	NM_201253	NM_201253	NA	Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367399.2:c.2818C>G	1.37:g.197404147C>G	ENSP00000356369:p.Gln940Glu	NA	A2A308|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0	37	CCDS53454.1	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113985	0.20795	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.7	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.70509	0.3232	M	0.68317	2.08	0.38634	D	0.951453	P;P;B;P	0.38280	0.571;0.571;0.228;0.625	B;B;B;B	0.38156	0.121;0.229;0.083;0.266	T	0.68112	-0.5495	9	0.02654	T	1	.	10.6667	0.45734	0.1324:0.7976:0.0:0.0701	.	1028;940;701;1052	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	E	1028;1052;940;533;433;701	ENSP00000438786:Q1028E;ENSP00000356370:Q1052E;ENSP00000356369:Q940E;ENSP00000444556:Q533E;ENSP00000356367:Q433E	ENSP00000356367:Q433E	Q	+	1	0	CRB1	195670770	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.552000	0.45828	2.681000	0.91329	0.650000	0.86243	CAA	CRB1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280653.1		+	ENST00000367399.2	Missense_Mutation	SNP	1 : 197404147 - 197404147 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	573	25
CSPP1	79848	broad.mit.edu	37	8	68062034	68062034	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:68062034G>C	ENST00000262210.5	+	16	2008	c.1977G>C	c.(1975-1977)atG>atC	p.M659I	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	694						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAATAGGATGCACAGACAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	191	193			NA	NA	8		NA											NA				68062034		1834	4086	5920	SO:0001583	missense			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218	79848	79848			26193	protein-coding gene	gene with protein product		611654			NA	15580290, 24360807	Standard	NM_024790	NM_024790	NA	Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1977G>C	8.37:g.68062034G>C	ENSP00000262210:p.Met659Ile	NA	A6ND63|Q70F00|Q8TBC1	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428415	0.83667	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.75821	-0.97	5.96	5.96	0.96718	.	0.000000	0.53938	U	0.000057	D	0.83193	0.5201	L	0.43152	1.355	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.75484	0.986;0.986;0.986	T	0.83223	-0.0067	10	0.66056	D	0.02	-10.4183	20.0142	0.97474	0.0:0.0:1.0:0.0	.	659;694;694	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	I	659;694	ENSP00000262210:M659I	ENSP00000262210:M659I	M	+	3	0	CSPP1	68224588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.094000	0.76944	2.831000	0.97527	0.650000	0.86243	ATG	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379254.1		+	ENST00000262210.5	Missense_Mutation	SNP	8 : 68062034 - 68062034 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	948	122
CTSF	8722	broad.mit.edu	37	11	66331559	66331559	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:66331559C>T	ENST00000310325.5	-	12	1489	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	460				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).	proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGACTCACCTTCTCACCCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	11		NA											NA				66331559		2200	4295	6495	SO:0001630	splice_region_variant			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080	8722	8722		Cathepsins	2531	protein-coding gene	gene with protein product		603539			NA	9822672, 10318784	Standard	NM_003793	NM_003793	NA	Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1380+1G>A	11.37:g.66331559C>T		NA	B2R964|O95240|Q9NSU4|Q9UKQ5	37	CCDS8144.1																																																																																			CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393047.1	Silent	-	ENST00000310325.5	Splice_Site	SNP	11 : 66331559 - 66331559 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	145	15
DEFB119	245932	broad.mit.edu	37	20	29965196	29965196	+	Silent	SNP	C	C	T	rs144077858	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:29965196C>T	ENST00000376321.3	-	2	227	c.108G>A	c.(106-108)agG>agA	p.R36R	DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	36					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCAAGAGGCCCTACAAATTC	0.438		NA											C	6	0.0027	0.01	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0027	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	,	29,4377	35.2+/-66.4	0,29,2174	188	173	178		108,	0.6	0.2	20	dbSNP_134	178	0,8600		0,0,4300	no	coding-synonymous,utr-3	DEFB119	NM_153289.2,NM_173460.1	,	0,29,6474	TT,TC,CC	NA	0.0,0.6582,0.223	,	36/85,	29965196	29,12977	2203	4300	6503	SO:0001819	synonymous_variant			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483	245932	245932		Defensins, beta	18099	protein-coding gene	gene with protein product			defensin, beta 120	DEFB120	NA	11854508	Standard	NM_153289	NM_153289	NA	Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.108G>A	20.37:g.29965196C>T		NA	Q5GRG1|Q5JWP1|Q8N689	37	CCDS13178.1																																																																																			DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078514.1		-	ENST00000376321.3	Silent	SNP	20 : 29965196 - 29965196 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	786	114
DLG5	9231	broad.mit.edu	37	10	79589222	79589222	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:79589222G>A	ENST00000372391.2	-	12	2081	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG5_ENST00000372388.2_Silent_p.I692I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	692	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAGCGCCTTGATGGCCTGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	165	175			NA	NA	10		NA											NA				79589222		2203	4300	6503	SO:0001819	synonymous_variant			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208	9231	9231			2904	protein-coding gene	gene with protein product		604090	discs, large (Drosophila) homolog 5		NA	9738934	Standard		XM_005270276	NA	Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2076C>T	10.37:g.79589222G>A		NA	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	37	CCDS7353.2																																																																																			DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048900.2		-	ENST00000372391.2	Silent	SNP	10 : 79589222 - 79589222 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	750	25
DMAP1	55929	broad.mit.edu	37	1	44680376	44680376	+	Splice_Site	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:44680376G>C	ENST00000372289.2	+	3	462	c.199G>C	c.(199-201)Gat>Cat	p.D67H	DMAP1_ENST00000315913.5_Splice_Site_p.D67H|DMAP1_ENST00000361745.6_Splice_Site_p.D67H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	67					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCCTGCCAGGGATGCACCCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	1		NA											NA				44680376		2203	4300	6503	SO:0001630	splice_region_variant			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028	55929	55929			18291	protein-coding gene	gene with protein product		605077			NA	10888872, 10718198	Standard	NM_019100	XM_005271039	NA	Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.198-1G>C	1.37:g.44680376G>C		NA	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008721	0.93346	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.99;0.993;0.994;0.991;0.991;0.99	T	0.63756	-0.6565	10	0.66056	D	0.02	-13.9902	19.3227	0.94248	0.0:0.0:1.0:0.0	.	67;67;67;67;93;67	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	H	67;67;93;67;93;93;67;67;38	ENSP00000354697:D67H;ENSP00000409200:D67H;ENSP00000401099:D67H;ENSP00000400269:D93H;ENSP00000402494:D93H;ENSP00000312697:D67H;ENSP00000361363:D67H;ENSP00000361364:D38H	ENSP00000312697:D67H	D	+	1	0	DMAP1	44452963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.655000	0.94253	GAT	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020027.3	Missense_Mutation	+	ENST00000372289.2	Splice_Site	SNP	1 : 44680376 - 44680376 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	530	70
DNAH9	1770	broad.mit.edu	37	17	11650939	11650939	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:11650939G>A	ENST00000454412.2	+	32	6466	c.6466G>A	c.(6466-6468)Ggc>Agc	p.G2156S	DNAH9_ENST00000262442.4_Missense_Mutation_p.G2156S			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2156	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTGGTACCGGCAAGTCACA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	71	73			NA	NA	17		NA											NA				11650939		2203	4300	6503	SO:0001583	missense			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174	1770	1770		Axonemal dyneins	2953	protein-coding gene	gene with protein product		603330	dynein, axonemal, heavy polypeptide 17-like, dynein, axonemal, heavy polypeptide 9	DNAH17L	NA	8812413, 11247663	Standard	NM_001372	NM_001372	NA	Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000454412.2:c.6466G>A	17.37:g.11650939G>A	ENSP00000414874:p.Gly2156Ser	NA	O15064|O95494|Q9NQ28	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.208342	0.79240	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.92048	-2.96;-2.96	4.5	4.5	0.54988	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	H	0.97587	4.035	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99301	1.0901	10	0.87932	D	0	.	17.416	0.87500	0.0:0.0:1.0:0.0	.	2156	Q9NYC9	DYH9_HUMAN	S	2156;2156;738	ENSP00000262442:G2156S;ENSP00000414874:G2156S	ENSP00000262442:G2156S	G	+	1	0	DNAH9	11591664	1.000000	0.71417	0.928000	0.36995	0.327000	0.28475	9.556000	0.98127	2.346000	0.79739	0.557000	0.71058	GGC	DNAH9-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000252758.4		+	ENST00000454412.2	Missense_Mutation	SNP	17 : 11650939 - 11650939 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	424	47
DPP8	54878	broad.mit.edu	37	15	65793003	65793003	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:65793003G>A	ENST00000341861.5	-	4	2115	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	DPP8_ENST00000300141.6_Silent_p.L163L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L|DPP8_ENST00000559233.1_Silent_p.L179L|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000358939.4_Silent_p.L163L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	179					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.L163V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTGAAACAGAAATGTTCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											192	181	185			NA	NA	15		NA											NA				65793003		2201	4299	6500	SO:0001819	synonymous_variant			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603	54878	54878			16490	protein-coding gene	gene with protein product	dipeptidyl peptidase VIII, dipeptidyl peptidase IV-related protein-1, prolyl dipeptidase DPP8	606819	dipeptidylpeptidase 8		NA	11012666	Standard	NM_017743	XM_005254500	NA	Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.535C>T	15.37:g.65793003G>A		NA	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	37	CCDS10207.1																																																																																			DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256847.1		-	ENST00000341861.5	Silent	SNP	15 : 65793003 - 65793003 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	988	119
DSE	29940	broad.mit.edu	37	6	116579984	116579984	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:116579984C>T	ENST00000540275.1	+	2	499	c.378C>T	c.(376-378)gaC>gaT	p.D126D				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	55					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGTGTATGACCTCGAAGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	29940	29940	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	squamous cell carcinoma antigen recognized by T cells 2	SART2	NA	11920522, 16505484	Standard	NM_013352	NM_001080976	NA	Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000540275.1:c.378C>T	6.37:g.116579984C>T		NA	Q5R3K6	37																																																																																				DSE-203	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000540275.1	Silent	SNP	6 : 116579984 - 116579984 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	221	23
DYM	54808	broad.mit.edu	37	18	46783384	46783384	+	Missense_Mutation	SNP	T	T	A	rs61758455		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:46783384T>A	ENST00000269445.6	-	13	1913	c.1456A>T	c.(1456-1458)Atc>Ttc	p.I486F	DYM_ENST00000442713.2_Missense_Mutation_p.I296F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	486						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTTACCTGATGATCCTCTGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	100	106			NA	NA	18		NA											NA				46783384		2203	4300	6503	SO:0001583	missense			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627	54808	54808			21317	protein-coding gene	gene with protein product		607461			NA		Standard	NM_017653	NM_017653	NA	Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1456A>T	18.37:g.46783384T>A	ENSP00000269445:p.Ile486Phe	NA	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953857	0.73902	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.85258	-1.96;-1.96	5.54	4.38	0.52667	.	0.044822	0.85682	D	0.000000	D	0.87067	0.6085	L	0.45137	1.4	0.80722	D	1	D;P;D;D	0.64830	0.991;0.926;0.993;0.994	P;P;D;P	0.63192	0.858;0.46;0.912;0.892	D	0.85578	0.1238	10	0.45353	T	0.12	.	10.5173	0.44898	0.0:0.0775:0.0:0.9225	.	296;40;308;486	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	F	91;296;486	ENSP00000395942:I296F;ENSP00000269445:I486F	ENSP00000269445:I486F	I	-	1	0	DYM	45037382	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.925000	0.70062	0.933000	0.37291	0.533000	0.62120	ATC	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255912.3		-	ENST00000269445.6	Missense_Mutation	SNP	18 : 46783384 - 46783384 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	249	38
DYRK3	8444	broad.mit.edu	37	1	206822032	206822032	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:206822032G>A	ENST00000367106.1	+	4	1902	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K|DYRK3_ENST00000367109.2_Missense_Mutation_p.E497K|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	497	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTGTTTATAGAGTTCTTGAA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(164;427 2622 26826 51707)							NA				0													59	62	61			NA	NA	1		NA											NA				206822032		2203	4300	6503	SO:0001583	missense			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	8444	8444	2.7.12.1		3094	protein-coding gene	gene with protein product	regulatory erythroid kinase, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5, protein kinase Dyrk3	603497			NA	9748265	Standard	NM_003582	NM_003582	NA	Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367106.1:c.1429G>A	1.37:g.206822032G>A	ENSP00000356073:p.Glu477Lys	NA	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	37	CCDS31000.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763548	0.69878	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.20332	2.08;2.08;2.08	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100076	0.64402	D	0.000001	T	0.25005	0.0607	N	0.26130	0.795	0.58432	D	0.999997	P;P	0.45902	0.486;0.868	P;P	0.48189	0.484;0.57	T	0.01326	-1.1384	10	0.87932	D	0	.	18.1352	0.89617	0.0:0.0:1.0:0.0	.	497;477	O43781;O43781-2	DYRK3_HUMAN;.	K	497;477;477	ENSP00000356076:E497K;ENSP00000356075:E477K;ENSP00000356073:E477K	ENSP00000356073:E477K	E	+	1	0	DYRK3	204888655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.765000	0.95021	0.555000	0.69702	GAG	DYRK3-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088461.1		+	ENST00000367106.1	Missense_Mutation	SNP	1 : 206822032 - 206822032 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	575	19
EDAR	10913	broad.mit.edu	37	2	109524464	109524464	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:109524464G>A	ENST00000409271.1	-	10	1354	c.911C>T	c.(910-912)gCc>gTc	p.A304V	EDAR_ENST00000258443.2_Missense_Mutation_p.A272V|EDAR_ENST00000376651.1_Missense_Mutation_p.A304V			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	272					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCGGATGAGGCATCGTTCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	2		NA											NA				109524464		2203	4300	6503	SO:0001583	missense			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960	10913	10913		Tumor necrosis factor receptor superfamily	2895	protein-coding gene	gene with protein product		604095	ectodysplasin 1, anhidrotic receptor	ED3, DL	NA	10431241, 9375732	Standard		NM_022336	NA	Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000409271.1:c.911C>T	2.37:g.109524464G>A	ENSP00000386371:p.Ala304Val	NA	D3DX74|Q52LL5|Q9UND9	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077967	0.76528	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94828	-3.53;-3.32;-3.53	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.985	D	0.97373	0.9977	10	0.72032	D	0.01	-31.1079	19.7084	0.96083	0.0:0.0:1.0:0.0	.	304;272	E9PC98;Q9UNE0	.;EDAR_HUMAN	V	304;272;304	ENSP00000386371:A304V;ENSP00000258443:A272V;ENSP00000365839:A304V	ENSP00000258443:A272V	A	-	2	0	EDAR	108890896	1.000000	0.71417	0.938000	0.37757	0.188000	0.23474	9.110000	0.94302	2.648000	0.89879	0.561000	0.74099	GCC	EDAR-002	KNOWN	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000331201.1		-	ENST00000409271.1	Missense_Mutation	SNP	2 : 109524464 - 109524464 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	214	30
EHBP1L1	254102	broad.mit.edu	37	11	65351822	65351822	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:65351822C>G	ENST00000309295.4	+	10	3469	c.3204C>G	c.(3202-3204)aaC>aaG	p.N1068K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1068	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGCGCAACGGCTTGGCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	70	67			NA	NA	11		NA											NA				65351822		2171	4266	6437	SO:0001583	missense			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442	254102	254102			30682	protein-coding gene	gene with protein product					NA		Standard	XM_170658	NM_001099409	NA	Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3204C>G	11.37:g.65351822C>G	ENSP00000312671:p.Asn1068Lys	NA	Q8TB89|Q9H7M7	37	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.82|19.82	3.897825|3.897825	0.72639|0.72639	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	D;D|.	0.95724|.	-3.79;-3.79|.	5.31|5.31	0.137|0.137	0.14787|0.14787	Calponin homology domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.77574|0.77574	-0.2537|-0.2537	10|5	0.87932|.	D|.	0|.	.|.	8.6876|8.6876	0.34247|0.34247	0.0:0.4974:0.0:0.5026|0.0:0.4974:0.0:0.5026	.|.	485;1068|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	K|G	1068;485|118	ENSP00000312671:N1068K;ENSP00000431996:N485K|.	ENSP00000312671:N1068K|.	N|R	+|+	3|1	2|2	EHBP1L1|EHBP1L1	65108398|65108398	0.001000|0.001000	0.12720|0.12720	0.984000|0.984000	0.44739|0.44739	0.985000|0.985000	0.73830|0.73830	-1.676000|-1.676000	0.01946|0.01946	-0.226000|-0.226000	0.09899|0.09899	0.561000|0.561000	0.74099|0.74099	AAC|CGG	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390145.1		+	ENST00000309295.4	Missense_Mutation	SNP	11 : 65351822 - 65351822 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	415	16
EML4	27436	broad.mit.edu	37	2	42511790	42511790	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:42511790G>T	ENST00000318522.5	+	9	1220	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	EML4_ENST00000401738.3_Missense_Mutation_p.D331Y|EML4_ENST00000402711.2_Missense_Mutation_p.D262Y	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	320					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TATACATCCTGACAAAATTAG	0.378		NA	T	ALK	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													166	155	158			NA	NA	2		NA											NA				42511790		2203	4300	6503	SO:0001583	missense			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924	27436	27436		WD repeat domain containing	1316	protein-coding gene	gene with protein product		607442		C2orf2	NA		Standard	NM_019063	NM_019063	NA	Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.958G>T	2.37:g.42511790G>T	ENSP00000320663:p.Asp320Tyr	NA	B2RBK3|B2RTW7|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366057	0.82463	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57107	0.42;0.42;0.42	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.80634	-0.1295	10	0.87932	D	0	-12.2515	17.8854	0.88852	0.0:0.0:1.0:0.0	.	262;320	B5MCW9;Q9HC35	.;EMAL4_HUMAN	Y	320;262;331	ENSP00000320663:D320Y;ENSP00000385059:D262Y;ENSP00000384939:D331Y	ENSP00000320663:D320Y	D	+	1	0	EML4	42365294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.393000	0.97256	2.282000	0.76494	0.484000	0.47621	GAC	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250463.3		+	ENST00000318522.5	Missense_Mutation	SNP	2 : 42511790 - 42511790 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	319	47
EOMES	8320	broad.mit.edu	37	3	27759190	27759190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27759190C>A	ENST00000295743.4	-	6	1635	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497*|EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*			O95936	EOMES_HUMAN	eomesodermin	478					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACAAAGGGCTCCGGGAAGAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	82			NA	NA	3		NA											NA				27759190		2203	4300	6503	SO:0001587	stop_gained			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508	8320	8320		T-boxes	3372	protein-coding gene	gene with protein product	T-box brain2	604615	eomesodermin (Xenopus laevis) homolog		NA	9888994, 9434949	Standard	NM_005442	NM_005442	NA	Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1432G>T	3.37:g.27759190C>A	ENSP00000295743:p.Glu478*	NA	Q8TAZ2|Q9UPM7	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	38	7.132100	0.98085	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	.	.	.	5.1	5.1	0.69264	.	1.323980	0.04968	N	0.463351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.4135	0.94685	0.0:1.0:0.0:0.0	.	.	.	.	X	478;497;202;362	.	ENSP00000295743:E478X	E	-	1	0	EOMES	27734194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.769000	0.95229	0.655000	0.94253	GAG	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252995.1		-	ENST00000295743.4	Nonsense_Mutation	SNP	3 : 27759190 - 27759190 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	435	40
EPS8L1	54869	broad.mit.edu	37	19	55597502	55597502	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55597502T>C	ENST00000201647.6	+	16	1648	c.1592T>C	c.(1591-1593)aTc>aCc	p.I531T	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.I467T|EPS8L1_ENST00000245618.5_Missense_Mutation_p.I404T|EPS8L1_ENST00000588359.1_Missense_Mutation_p.I217T	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	531	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCTACAACATCCTGACACCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(149;255 1863 3636 27051 29647)							NA				0													87	92	90			NA	NA	19		NA											NA				55597502		2203	4300	6503	SO:0001583	missense			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037	54869	54869			21295	protein-coding gene	gene with protein product		614987			NA	12620401	Standard	NM_017729	NM_133180	NA	Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1592T>C	19.37:g.55597502T>C	ENSP00000201647:p.Ile531Thr	NA	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.917634	0.73098	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.29917	1.55;1.55;1.55	4.43	4.43	0.53597	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.88105	2.93	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.963	T	0.67868	-0.5559	10	0.87932	D	0	-27.9937	11.9022	0.52690	0.0:0.0:0.0:1.0	.	310;404;531	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	T	531;467;404;217	ENSP00000201647:I531T;ENSP00000437541:I467T;ENSP00000245618:I404T	ENSP00000201647:I531T	I	+	2	0	EPS8L1	60289314	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	6.645000	0.74343	1.775000	0.52247	0.397000	0.26171	ATC	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451713.1		+	ENST00000201647.6	Missense_Mutation	SNP	19 : 55597502 - 55597502 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	514	24
FAM180A	389558	broad.mit.edu	37	7	135418815	135418815	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:135418815G>C	ENST00000338588.3	-	3	695	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	144						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATGTCCTTCTGATGGCCGTGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	91	96			NA	NA	7		NA											NA				135418815		2203	4300	6503	SO:0001583	missense			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320	389558	389558			33773	protein-coding gene	gene with protein product					NA	12975309, 12690205	Standard	NM_205855	NM_205855	NA	Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.430C>G	7.37:g.135418815G>C	ENSP00000342336:p.Gln144Glu	NA	B2RP85	37	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458856	0.84317	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	5.65	0.86999	.	0.053099	0.85682	D	0.000000	T	0.53642	0.1809	M	0.72894	2.215	0.53688	D	0.999978	D	0.67145	0.996	D	0.76071	0.987	T	0.42015	-0.9476	10	0.19147	T	0.46	-11.6415	17.225	0.86967	0.0:0.0:1.0:0.0	.	144	Q6UWF9	F180A_HUMAN	E	144	ENSP00000342336:Q144E;ENSP00000395467:Q144E	ENSP00000342336:Q144E	Q	-	1	0	FAM180A	135069355	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	8.517000	0.90555	2.677000	0.91161	0.561000	0.74099	CAG	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340554.2		-	ENST00000338588.3	Missense_Mutation	SNP	7 : 135418815 - 135418815 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	347	43
FASN	2194	broad.mit.edu	37	17	80049208	80049208	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:80049208G>A	ENST00000306749.2	-	9	1600	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	461	Acyl and malonyl transferases (By similarity).			AVPA -> LSPT (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGCGGTGGCGGGGACAGCCGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(59;314 1043 11189 28578 32273)							NA				0													15	19	17			NA	NA	17		NA											NA				80049208		2184	4282	6466	SO:0001583	missense			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2194	2194	2.3.1.85	Short chain dehydrogenase/reductase superfamily / Atypical members	3594	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 27X, member 1	600212			NA	7835891, 7567999, 19027726	Standard	NM_004104	NM_004104	NA	Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1382C>T	17.37:g.80049208G>A	ENSP00000304592:p.Pro461Leu	NA	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231188	0.58777	.	.	ENSG00000169710	ENST00000306749	T	0.25414	1.8	4.41	4.41	0.53225	.	0.269718	0.36482	N	0.002567	T	0.35740	0.0942	L	0.28776	0.89	0.43902	D	0.996533	D	0.65815	0.995	P	0.58820	0.846	T	0.21484	-1.0244	10	0.62326	D	0.03	-5.7597	17.1601	0.86802	0.0:0.0:1.0:0.0	.	461	P49327	FAS_HUMAN	L	461	ENSP00000304592:P461L	ENSP00000304592:P461L	P	-	2	0	FASN	77642497	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	7.495000	0.81514	2.298000	0.77334	0.484000	0.47621	CCC	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442369.1		-	ENST00000306749.2	Missense_Mutation	SNP	17 : 80049208 - 80049208 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	120	17
FBXW7	55294	broad.mit.edu	37	4	153332931	153332931	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:153332931C>T	ENST00000281708.4	-	2	1254	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	9					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTTGCTGCCCACAGAGAGC	0.483		NA	Mis, N, D, F		colorectal, endometrial, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		4	4q31.3	55294	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)		E, L	0													63	55	57			NA	NA	4		NA											NA				153332931		2203	4300	6503	SO:0001583	missense			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23				NA	55294		F-boxes / WD-40 domains, WD repeat domain containing	16712	protein-coding gene	gene with protein product	archipelago homolog (Drosophila)	606278	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila), F-box and WD repeat domain containing 7		NA	10531037, 11425854	Standard		NM_018315	NA	Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.25G>A	4.37:g.153332931C>T	ENSP00000281708:p.Gly9Ser	NA	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332824	0.81801	.	.	ENSG00000109670	ENST00000281708	T	0.66995	-0.24	5.67	5.67	0.87782	.	0.073729	0.52532	D	0.000071	T	0.71896	0.3394	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.66256	-0.5969	10	0.18276	T	0.48	-5.609	19.7677	0.96349	0.0:1.0:0.0:0.0	.	9;9	G0Z2K0;Q969H0	.;FBXW7_HUMAN	S	9	ENSP00000281708:G9S	ENSP00000281708:G9S	G	-	1	0	FBXW7	153552381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.668000	0.90789	0.650000	0.86243	GGC	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469956.1		-	ENST00000281708.4	Missense_Mutation	SNP	4 : 153332931 - 153332931 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	225	38
FLT4	2324	broad.mit.edu	37	5	180056837	180056837	+	Splice_Site	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:180056837T>A	ENST00000261937.6	-	6	755		c.e6-2		FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000393347.3_Splice_Site|FLT4_ENST00000502649.1_Splice_Site	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	NA					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCGTTGCCTGTTGACACGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													80	70	74			NA	NA	5		NA											NA				180056837		2200	4296	6496	SO:0001630	splice_region_variant			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.677-2A>T	5.37:g.180056837T>A		NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422002	0.62622	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8506	0.70295	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT4	179989443	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.474000	0.81024	1.976000	0.57569	0.459000	0.35465	.	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4	Intron	-	ENST00000261937.6	Splice_Site	SNP	5 : 180056837 - 180056837 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	180	76
FNBP1	23048	broad.mit.edu	37	9	132662705	132662705	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132662705C>T	ENST00000446176.2	-	14	1736	c.1550G>A	c.(1549-1551)aGc>aAc	p.S517N	FNBP1_ENST00000443566.2_Splice_Site_p.S145N|FNBP1_ENST00000355681.3_Splice_Site_p.S488N|FNBP1_ENST00000420781.1_Splice_Site_p.S508N|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	517	Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				NA		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GATACTGTACCTCTCACGGTC	0.572		NA	T	MLL	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													39	44	42			NA	NA	9		NA											NA				132662705		2025	4174	6199	SO:0001630	splice_region_variant			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239	23048	23048			17069	protein-coding gene	gene with protein product		606191			NA	9628581, 11438682	Standard		XM_005251815	NA	Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1550+1G>A	9.37:g.132662705C>T		NA	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	37	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869244|3.869244	0.72065|0.72065	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|T;T;T;T	.|0.74002	.|-0.8;-0.8;-0.8;-0.8	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	.|0.178639	.|0.64402	.|D	.|0.000015	D|D	0.85026|0.85026	0.5603|0.5603	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D;P;D;D;D	.|0.89917	.|0.997;0.999;0.997;0.967;0.794;1.0;0.979;0.999	.|D;D;D;P;P;D;P;D	.|0.73380	.|0.922;0.978;0.938;0.852;0.618;0.98;0.835;0.942	D|D	0.85688|0.85688	0.1305|0.1305	5|9	.|.	.|.	.|.	-34.4769|-34.4769	16.4132|16.4132	0.83726|0.83726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|512;507;145;451;488;468;512;517	.|B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;.;FNBP1_HUMAN	T|N	469|517;517;508;517;145;488	.|ENSP00000413625:S517N;ENSP00000407548:S508N;ENSP00000389117:S145N;ENSP00000347907:S488N	.|.	A|S	-|-	1|2	0|0	FNBP1|FNBP1	131702526|131702526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	6.738000|6.738000	0.74822|0.74822	2.405000|2.405000	0.81733|0.81733	0.462000|0.462000	0.41574|0.41574	GCC|AGC	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054630.2	Missense_Mutation	-	ENST00000446176.2	Splice_Site	SNP	9 : 132662705 - 132662705 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	98	10
FRYL	285527	broad.mit.edu	37	4	48605373	48605373	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:48605373C>G	ENST00000503238.1	-	9	866	c.867G>C	c.(865-867)ttG>ttC	p.L289F	FRYL_ENST00000358350.4_Missense_Mutation_p.L289F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L289F|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.L289F			O94915	FRYL_HUMAN	FRY-like	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATTTTTCAAACAGGGAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	63	64			NA	NA	4		NA											NA				48605373		1811	4058	5869	SO:0001583	missense			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539	285527	285527			29127	protein-coding gene	gene with protein product			KIAA0826, furry homolog-like (Drosophila)	KIAA0826	NA	10048485	Standard		NM_015030	NA	Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.867G>C	4.37:g.48605373C>G	ENSP00000426064:p.Leu289Phe	NA	O95640|Q8WTZ5|Q9NT40	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730434	0.89390	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.16	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.53938	U	0.000057	T	0.81711	0.4880	M	0.71581	2.175	0.80722	D	1	D;P	0.69078	0.997;0.943	D;P	0.79108	0.992;0.874	T	0.80795	-0.1223	10	0.45353	T	0.12	.	19.5444	0.95285	0.0:1.0:0.0:0.0	.	289;289	F2Z2S2;O94915	.;FRYL_HUMAN	F	289	ENSP00000426064:L289F;ENSP00000351113:L289F;ENSP00000441114:L289F;ENSP00000421584:L289F	ENSP00000351113:L289F	L	-	3	2	FRYL	48300130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	2.628000	0.89032	0.655000	0.94253	TTG	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369265.2		-	ENST00000503238.1	Missense_Mutation	SNP	4 : 48605373 - 48605373 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	454	58
GCM1	8521	broad.mit.edu	37	6	52996784	52996811	+	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	TAACTAACTCAAAAATCCAACCTGGAAA	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	TAACTAACTCAAAAATCCAACCTGGAAA	TAACTAACTCAAAAATCCAACCTGGAAA	-	-	TAACTAACTCAAAAATCCAACCTGGAAA	TAACTAACTCAAAAATCCAACCTGGAAA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	ENST00000259803.7	-	4	646_653	c.435_442delTTTCCAGGTTGGATTTTTGAGTTAGTTA	c.(433-444)tttttccaggtt>tttt	p.FQV146fs		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	146						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AACTCTCACGTAACTAACTCAAAAATCCAACCTGGAAAAATATAAAGC	0.518		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Unknown(1)	ovary(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270	8521	8521			4197	protein-coding gene	gene with protein product		603715	glial cells missing (Drosophila) homolog a	GCMA	NA	8962155	Standard		NM_003643	NA	Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.441+1TTTCCAGGTTGGATTTTTGAGTTAGTTA>-	6.37:g.52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA		NA	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	37	CCDS4950.1																																																																																			GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040953.1	Frame_Shift_Del	-	ENST00000259803.7	Splice_Site	DEL	6 : 52996784 - 52996811 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	161	8
GLI3	2737	broad.mit.edu	37	7	42012195	42012195	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:42012195G>C	ENST00000395925.3	-	13	1928	c.1844C>G	c.(1843-1845)aCt>aGt	p.T615S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	615					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTAACGCTTAGTGCAGCCTGG	0.507		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	74			NA	NA	7		NA											NA				42012195		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1844C>G	7.37:g.42012195G>C	ENSP00000379258:p.Thr615Ser	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015304	0.93404	.	.	ENSG00000106571	ENST00000395925	T	0.50277	0.75	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.10760	0.04	0.80722	D	1	B	0.32893	0.389	P	0.45071	0.468	T	0.52510	-0.8566	10	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	615	P10071	GLI3_HUMAN	S	615	ENSP00000379258:T615S	ENSP00000379258:T615S	T	-	2	0	GLI3	41978720	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	9.869000	0.99810	2.804000	0.96469	0.655000	0.94253	ACT	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42012195 - 42012195 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	302	46
HBE1	3046	broad.mit.edu	37	11	5289744	5289744	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:5289744C>G	ENST00000380237.1	-	5	743	c.399G>C	c.(397-399)aaG>aaC	p.K133N	HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	133					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACACCAGCTTCTGCCAGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	141	148			NA	NA	11		NA											NA				5289744		2201	4298	6499	SO:0001583	missense			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931	3046	3046			4830	protein-coding gene	gene with protein product		142100			NA	2649166	Standard	NM_005330	NM_005330	NA	Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.399G>C	11.37:g.5289744C>G	ENSP00000369586:p.Lys133Asn	NA	Q6FH44	37	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853467	0.71719	.	.	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.95482	-3.72;-3.72	6.06	2.03	0.26663	Globin-like (1);Globin, structural domain (1);	0.065321	0.64402	U	0.000014	D	0.97971	0.9332	H	0.96662	3.86	0.58432	D	0.999993	D	0.76494	0.999	D	0.65874	0.939	D	0.96683	0.9505	10	0.87932	D	0	-25.6695	8.6332	0.33933	0.0:0.6625:0.0:0.3375	.	133	P02100	HBE_HUMAN	N	133	ENSP00000369586:K133N;ENSP00000292896:K133N	ENSP00000292896:K133N	K	-	3	2	HBE1	5246320	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.268000	0.33062	0.113000	0.18004	-0.150000	0.13652	AAG	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142973.2		-	ENST00000380237.1	Missense_Mutation	SNP	11 : 5289744 - 5289744 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	732	126
HMCES	56941	broad.mit.edu	37	3	129020839	129020839	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:129020839G>C	ENST00000383463.4	+	6	771	c.682G>C	c.(682-684)Gac>Cac	p.D228H	HMCES_ENST00000417226.2_Missense_Mutation_p.D186H|HMCES_ENST00000502878.2_Missense_Mutation_p.D228H|HMCES_ENST00000389735.3_Missense_Mutation_p.D228H	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	228											NA						TAAATGGCTTGACTTTGGTGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	127	126			NA	NA	3		NA											NA				129020839		2203	4300	6503	SO:0001583	missense			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624	56941	56941			24446	protein-coding gene	gene with protein product	SOS response associated peptidase domain containing 1		chromosome 3 open reading frame 37	C3orf37	NA	23434322, 23945014	Standard	NM_020187	XM_005247636	NA	Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.682G>C	3.37:g.129020839G>C	ENSP00000372955:p.Asp228His	NA		37	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287703	0.59976	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	5.2	1.37	0.22104	.	0.140572	0.64402	D	0.000007	T	0.78266	0.4256	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.72338	0.977;0.947	T	0.76919	-0.2781	9	0.62326	D	0.03	-16.3914	9.1141	0.36746	0.3126:0.0:0.6874:0.0	.	186;228	E7EMP6;Q96FZ2	.;CC037_HUMAN	H	180;228;186;138;228;228;228;138	.	ENSP00000372955:D228H	D	+	1	0	C3orf37	130503529	1.000000	0.71417	0.326000	0.25389	0.982000	0.71751	3.284000	0.51708	0.035000	0.15519	0.591000	0.81541	GAC	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355470.2		+	ENST00000383463.4	Missense_Mutation	SNP	3 : 129020839 - 129020839 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	603	97
HMCN1	83872	broad.mit.edu	37	1	185966578	185966578	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:185966578G>C	ENST00000271588.4	+	25	4025	c.3796G>C	c.(3796-3798)Gat>Cat	p.D1266H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1266	Ig-like C2-type 10.				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						CACAGTGGAAGATCTAGAACC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	108	112			NA	NA	1		NA											NA				185966578		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.3796G>C	1.37:g.185966578G>C	ENSP00000271588:p.Asp1266His	NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660822	0.88154	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.21	5.51	5.51	0.81932	Immunoglobulin-like (1);	0.211109	0.48286	D	0.000184	T	0.62539	0.2436	L	0.43923	1.385	0.51012	D	0.999907	B	0.15930	0.015	B	0.15052	0.012	T	0.55774	-0.8088	10	0.36615	T	0.2	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	1266	Q96RW7	HMCN1_HUMAN	H	1266	ENSP00000271588:D1266H;ENSP00000356462:D1266H	ENSP00000271588:D1266H	D	+	1	0	HMCN1	184233201	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.922000	0.70036	2.736000	0.93811	0.655000	0.94253	GAT	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Missense_Mutation	SNP	1 : 185966578 - 185966578 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	384	53
IGF2R	3482	broad.mit.edu	37	6	160492963	160492963	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:160492963A>C	ENST00000356956.1	+	32	4613	c.4465A>C	c.(4465-4467)Agc>Cgc	p.S1489R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1489				S -> N (in Ref. 2; AAA59866).	receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CATGTTCATCAGCGCCGTGGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	164	173			NA	NA	6		NA											NA				160492963		2203	4300	6503	SO:0001583	missense			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081	3482	3482		CD molecules	5467	protein-coding gene	gene with protein product	cation-independent mannose-6 phosphate receptor	147280			NA		Standard	NM_000876	NM_000876	NA	Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4465A>C	6.37:g.160492963A>C	ENSP00000349437:p.Ser1489Arg	NA	Q7Z7G9|Q96PT5	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005983	0.74932	.	.	ENSG00000197081	ENST00000356956	T	0.02050	4.48	5.36	5.36	0.76844	Mannose-6-phosphate receptor, binding (1);	0.279013	0.41605	D	0.000852	T	0.05135	0.0137	M	0.67625	2.065	0.46586	D	0.999118	D	0.71674	0.998	D	0.72338	0.977	T	0.28933	-1.0028	10	0.45353	T	0.12	-6.113	10.2898	0.43588	0.8527:0.0:0.0:0.1473	.	1489	P11717	MPRI_HUMAN	R	1489	ENSP00000349437:S1489R	ENSP00000349437:S1489R	S	+	1	0	IGF2R	160412953	1.000000	0.71417	0.977000	0.42913	0.905000	0.53344	5.343000	0.65976	2.024000	0.59613	0.533000	0.62120	AGC	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042931.1		+	ENST00000356956.1	Missense_Mutation	SNP	6 : 160492963 - 160492963 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	706	29
ITGAE	3682	broad.mit.edu	37	17	3661083	3661083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:3661083C>A	ENST00000263087.4	-	9	1035	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	313	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AATATGCCACCATCGGTGAGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(182;635 2928 8995 38788)							NA				0													232	213	220			NA	NA	17		NA											NA				3661083		2203	4300	6503	SO:0001583	missense			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457	3682	3682		CD molecules, Integrins	6147	protein-coding gene	gene with protein product		604682			NA	8119947	Standard	NM_002208	NM_002208	NA	Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.937G>T	17.37:g.3661083C>A	ENSP00000263087:p.Gly313Cys	NA	Q17RS6|Q9NZU9	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353139	0.82132	.	.	ENSG00000083457	ENST00000263087	D	0.93019	-3.15	5.56	5.56	0.83823	von Willebrand factor, type A (3);	.	.	.	.	D	0.97424	0.9157	M	0.91872	3.25	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.97965	1.0340	9	0.87932	D	0	.	17.3887	0.87424	0.0:1.0:0.0:0.0	.	313	P38570	ITAE_HUMAN	C	313	ENSP00000263087:G313C	ENSP00000263087:G313C	G	-	1	0	ITGAE	3607832	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	5.183000	0.65065	2.787000	0.95880	0.514000	0.50259	GGT	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438169.1		-	ENST00000263087.4	Missense_Mutation	SNP	17 : 3661083 - 3661083 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1310	207
KAT6A	7994	broad.mit.edu	37	8	41834718	41834718	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:41834718C>G	ENST00000396930.3	-	8	1714	c.1171G>C	c.(1171-1173)Gac>Cac	p.D391H	KAT6A_ENST00000485568.1_Missense_Mutation_p.D391H|KAT6A_ENST00000265713.2_Missense_Mutation_p.D391H|KAT6A_ENST00000406337.1_Missense_Mutation_p.D391H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	391	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						CTGCAGAAGTCCAAGCCATCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	117	121			NA	NA	8		NA											NA				41834718		2203	4299	6502	SO:0001583	missense			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	7994	7994		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	13013	protein-coding gene	gene with protein product	Monocytic leukemia zinc finger protein	601408	runt-related transcription factor binding protein 2, MYST histone acetyltransferase (monocytic leukemia) 3	ZNF220, RUNXBP2, MYST3	NA	8849440, 8782817	Standard	NM_006766	NM_001099412	NA	Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1171G>C	8.37:g.41834718C>G	ENSP00000380136:p.Asp391His	NA	Q76L81	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056858	0.36277	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84370	0.21;0.21;0.21;-1.84	5.37	5.37	0.77165	.	0.152609	0.44902	D	0.000402	D	0.82811	0.5118	N	0.24115	0.695	0.29750	N	0.836435	P;D	0.58620	0.641;0.983	B;P	0.49708	0.125;0.62	T	0.80084	-0.1530	10	0.42905	T	0.14	-12.106	19.1648	0.93551	0.0:1.0:0.0:0.0	.	391;391	A5PLL3;Q92794	.;KAT6A_HUMAN	H	391	ENSP00000265713:D391H;ENSP00000385888:D391H;ENSP00000380136:D391H;ENSP00000430606:D391H	ENSP00000265713:D391H	D	-	1	0	KAT6A	41953875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.550000	0.53691	2.505000	0.84491	0.650000	0.86243	GAC	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318163.1		-	ENST00000396930.3	Missense_Mutation	SNP	8 : 41834718 - 41834718 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	620	56
KCNC4	3749	broad.mit.edu	37	1	110768648	110768664	+	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	CTGGCCTCACCCAACCC	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	CTGGCCTCACCCAACCC	CTGGCCTCACCCAACCC	-	-	CTGGCCTCACCCAACCC	CTGGCCTCACCCAACCC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	ENST00000413138.3	+	3	1675_1691	c.1667_1683delCTGGCCTCACCCAACCC	c.(1666-1683)gctggcctcacccaacccfs	p.AGLTQP556fs	KCNC4_ENST00000369787.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs			Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	556					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGAGGGAGCTGGCCTCACCCAACCCCTGGCCTCCT	0.641		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396	3749	3749		Potassium channels, Voltage-gated ion channels / Potassium channels	6236	protein-coding gene	gene with protein product		176265	chromosome 1 open reading frame 30	C1orf30	NA	1920536, 1740329, 16382104	Standard	NM_001039574	NM_004978	NA	Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000413138.3:c.1667_1683delCTGGCCTCACCCAACCC	1.37:g.110768648_110768664delCTGGCCTCACCCAACCC	ENSP00000388029:p.Ala556fs	NA	Q3MIM4|Q5TBI6	37																																																																																				KCNC4-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390341.1		+	ENST00000413138.3	Frame_Shift_Del	DEL	1 : 110768648 - 110768664 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	300	51
KIAA1467	57613	broad.mit.edu	37	12	13219646	13219646	+	Missense_Mutation	SNP	G	G	A	rs145573782	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:13219646G>A	ENST00000197268.8	+	6	1045	c.925G>A	c.(925-927)Gtt>Att	p.V309I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	309						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTACAACATCGTTGGAGTTGG	0.507		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													182	156	165			NA	NA	12		NA											NA				13219646		2203	4300	6503	SO:0001583	missense			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444	57613	57613			29288	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020853	XM_005253450	NA	Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.925G>A	12.37:g.13219646G>A	ENSP00000197268:p.Val309Ile	NA	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	37	CCDS31750.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.65	1.702571	0.30232	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.21734	1.99	5.58	2.75	0.32379	.	0.151025	0.64402	D	0.000015	T	0.12305	0.0299	L	0.31294	0.92	0.26197	N	0.9795	B	0.25235	0.121	B	0.14023	0.01	T	0.13469	-1.0508	10	0.34782	T	0.22	-13.0986	6.2254	0.20706	0.352:0.0:0.648:0.0	.	309	A2RU67	K1467_HUMAN	I	309;85	ENSP00000437974:V85I	ENSP00000197268:V309I	V	+	1	0	KIAA1467	13110913	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.709000	0.37909	1.352000	0.45808	0.650000	0.86243	GTT	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401007.1		+	ENST00000197268.8	Missense_Mutation	SNP	12 : 13219646 - 13219646 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	463	21
KIF4B	285643	broad.mit.edu	37	5	154395716	154395716	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:154395716A>C	ENST00000435029.4	+	1	2457	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	766	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATCTGAATGACCTCCTTGAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	5		NA											NA				154395716		2203	4300	6503	SO:0001583	missense			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2297A>C	5.37:g.154395716A>C	ENSP00000387875:p.Asp766Ala	NA		37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	14.79	2.641957	0.47153	.	.	ENSG00000226650	ENST00000435029	T	0.68181	-0.31	2.14	2.14	0.27477	.	.	.	.	.	T	0.55226	0.1907	L	0.55481	1.735	0.49915	D	0.999833	B	0.22909	0.077	B	0.23275	0.045	T	0.42999	-0.9418	9	0.15952	T	0.53	.	8.1524	0.31148	1.0:0.0:0.0:0.0	.	766	Q2VIQ3	KIF4B_HUMAN	A	766	ENSP00000387875:D766A	ENSP00000387875:D766A	D	+	2	0	KIF4B	154375909	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	3.984000	0.56923	0.939000	0.37446	0.460000	0.39030	GAC	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Missense_Mutation	SNP	5 : 154395716 - 154395716 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	276	48
KLHL11	55175	broad.mit.edu	37	17	40010103	40010103	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:40010103G>A	ENST00000319121.3	-	2	2076	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	672						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GAGGCATAGGGTATCTCTGTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	199	208			NA	NA	17		NA											NA				40010103		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502	55175	55175		Kelch-like, BTB/POZ domain containing	19008	protein-coding gene	gene with protein product			kelch-like 11 (Drosophila)		NA		Standard	NM_018143	NM_018143	NA	Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.2016C>T	17.37:g.40010103G>A		NA		37	CCDS11411.1																																																																																			KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257464.2		-	ENST00000319121.3	Silent	SNP	17 : 40010103 - 40010103 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	801	111
KLHL38	340359	broad.mit.edu	37	8	124664765	124664792	+	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-	rs7387544	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	GCTGGGGGCCAACTGGCTCTGCAAGTAC	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-	-	GCTGGGGGCCAACTGGCTCTGCAAGTAC	GCTGGGGGCCAACTGGCTCTGCAAGTAC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENST00000325995.7	-	1	398_425	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	c.(373-402)tcgtacttgcagagccagttggcccccagcfs	p.SYLQSQLAPS125fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	125								p.S134R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCAACTGGCTCTGCAAGTACGAGGAGCAGG	0.575		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946	340359	340359		Kelch-like, BTB/POZ domain containing	34435	protein-coding gene	gene with protein product			kelch-like 38 (Drosophila)		NA		Standard		NM_001081675	NA	Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	8.37:g.124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENSP00000321475:p.Ser125fs	NA	A0PK12	37	CCDS43766.1																																																																																			KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381288.1		-	ENST00000325995.7	Frame_Shift_Del	DEL	8 : 124664765 - 124664792 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	279	15
KLK8	11202	broad.mit.edu	37	19	51503919	51503919	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:51503919G>A	ENST00000391806.2	-	3	206	c.126C>T	c.(124-126)gtC>gtT	p.V42V	KLK8_ENST00000600767.1_Intron|KLK9_ENST00000376832.4_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_Intron|KLK9_ENST00000250366.6_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTCAAATGGACACACGGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	19		NA											NA				51503919		2203	4300	6503	SO:0001819	synonymous_variant			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455	11202	11202		Kallikreins, Serine peptidases / Serine peptidases	6369	protein-coding gene	gene with protein product		605644	kallikrein 8 (neuropsin/ovasin)	PRSS19	NA	10102990, 9714609, 16800724, 16800723	Standard	NM_007196	NM_144505	NA	Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000391806.2:c.126C>T	19.37:g.51503919G>A		NA	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	37	CCDS42600.1																																																																																			KLK8-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465031.1		-	ENST00000391806.2	Silent	SNP	19 : 51503919 - 51503919 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	513	43
KMT2A	4297	broad.mit.edu	37	11	118375783	118375783	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:118375783C>T	ENST00000534358.1	+	27	9199	c.9176C>T	c.(9175-9177)cCg>cTg	p.P3059L	KMT2A_ENST00000389506.5_Missense_Mutation_p.P3056L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3018L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						AGTCCTGGCCCGTCTCAGATT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	106			NA	NA	11		NA											NA				118375783		2200	4295	6495	SO:0001583	missense			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058	4297	4297		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7132	protein-coding gene	gene with protein product		159555	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	MLL	NA	1720549	Standard	NM_005933	NM_001197104	NA	Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000534358.1:c.9176C>T	11.37:g.118375783C>T	ENSP00000436786:p.Pro3059Leu	NA		37	CCDS55791.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862681	0.32884	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85013	-1.93;-1.93;-1.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53006	0.715;0.715	D	0.86967	0.2095	10	0.51188	T	0.08	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3059;3056	E9PQG7;Q03164	.;MLL1_HUMAN	L	3059;3056;3018;1966	ENSP00000436786:P3059L;ENSP00000374157:P3056L;ENSP00000346516:P3018L	ENSP00000346516:P3018L	P	+	2	0	MLL	117880993	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCG	KMT2A-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389228.2		+	ENST00000534358.1	Missense_Mutation	SNP	11 : 118375783 - 118375783 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	753	30
KRT39	390792	broad.mit.edu	37	17	39114945	39114945	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:39114945A>G	ENST00000355612.2	-	7	1419	c.1384T>C	c.(1384-1386)Tgc>Cgc	p.C462R	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	462	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTGATGGTGCAAATTTTAACC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	122	126			NA	NA	17		NA											NA				39114945		2203	4296	6499	SO:0001583	missense			AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859	390792	390792		-, Intermediate filaments type I, keratins (acidic)	32971	protein-coding gene	gene with protein product					NA	16831889	Standard	NM_213656	NM_213656	NA	Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1384T>C	17.37:g.39114945A>G	ENSP00000347823:p.Cys462Arg	NA	B2RXK6|Q6IFU6	37	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	A	9.108	1.005788	0.19199	.	.	ENSG00000196859	ENST00000355612	T	0.81078	-1.45	5.54	2.11	0.27256	.	0.716870	0.12158	N	0.494267	T	0.69142	0.3078	L	0.52573	1.65	0.43485	D	0.995715	B	0.13145	0.007	B	0.06405	0.002	T	0.54105	-0.8343	10	0.02654	T	1	.	7.8536	0.29470	0.6667:0.0:0.3333:0.0	.	462	Q6A163	K1C39_HUMAN	R	462	ENSP00000347823:C462R	ENSP00000347823:C462R	C	-	1	0	KRT39	36368471	0.842000	0.29525	0.990000	0.47175	0.882000	0.50991	1.164000	0.31810	0.075000	0.16796	-0.290000	0.09829	TGC	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257287.1		-	ENST00000355612.2	Missense_Mutation	SNP	17 : 39114945 - 39114945 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	513	16
LARS2	23395	broad.mit.edu	37	3	45533136	45533136	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:45533136G>A	ENST00000415258.1	+	12	1508	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	LARS2_ENST00000265537.3_Missense_Mutation_p.G456D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.G413D			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	456					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CGGTACTGGGGCACACCAATC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	108	109			NA	NA	3		NA											NA				45533136		2203	4300	6503	SO:0001583	missense			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	23395	23395	6.1.1.4	Aminoacyl tRNA synthetases / Class I	17095	protein-coding gene	gene with protein product	leucine tRNA ligase 2, mitochondrial	604544			NA	20194621, 15123417	Standard	NM_015340	NM_015340	NA	Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1367G>A	3.37:g.45533136G>A	ENSP00000408576:p.Gly456Asp	NA		37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618477	0.87359	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	D;D;D	0.97114	-4.25;-4.25;-4.25	5.88	4.99	0.66335	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.050320	0.85682	D	0.000000	D	0.99281	0.9749	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98237	1.0486	10	0.87932	D	0	-32.9792	16.2532	0.82497	0.0:0.0:0.8663:0.1337	.	413;456	E9PHM2;Q15031	.;SYLM_HUMAN	D	456;456;413	ENSP00000265537:G456D;ENSP00000408576:G456D;ENSP00000412893:G413D	ENSP00000265537:G456D	G	+	2	0	LARS2	45508140	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.460000	0.97641	1.446000	0.47643	0.561000	0.74099	GGC	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345001.1		+	ENST00000415258.1	Missense_Mutation	SNP	3 : 45533136 - 45533136 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	406	69
LHB	3972	broad.mit.edu	37	19	49520322	49520322	+	Splice_Site	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:49520322A>C	ENST00000221421.2	-	1	15		c.e1+1			NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	NA					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	CTGTAGTCTTACCTGGAGCAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	198	213			NA	NA	19		NA											NA				49520322		2203	4300	6503	SO:0001630	splice_region_variant				CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826	3972	3972		Endogenous ligands	6584	protein-coding gene	gene with protein product	lutropin, beta chain, interstitial cell stimulating hormone, beta chain, luteinizing hormone beta subunit	152780			NA	1191677	Standard	NM_000894	NM_000894	NA	Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.15+1T>G	19.37:g.49520322A>C		NA	Q9UDI0	37	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505370	0.26949	.	.	ENSG00000104826	ENST00000221421	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1486	0.36948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LHB	54212134	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	2.488000	0.45276	1.736000	0.51660	0.379000	0.24179	.	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466246.1	Intron	-	ENST00000221421.2	Splice_Site	SNP	19 : 49520322 - 49520322 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1048	111
LRRC6	23639	broad.mit.edu	37	8	133595976	133595976	+	Silent	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:133595976A>T	ENST00000518642.1	-	11	1247	c.1182T>A	c.(1180-1182)acT>acA	p.T394T	LRRC6_ENST00000519595.1_Silent_p.T397T|LRRC6_ENST00000250173.1_Silent_p.T397T			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	397	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCCGAGGTAGTTTTCATAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	180	191			NA	NA	8		NA											NA				133595976		2203	4300	6503	SO:0001819	synonymous_variant			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295	23639	23639			16725	protein-coding gene	gene with protein product	leucine rich testes protein	614930			NA	10775177, 23122586	Standard	NM_012472	NM_012472	NA	Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000518642.1:c.1182T>A	8.37:g.133595976A>T		NA	Q13648|Q4G183	37																																																																																				LRRC6-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379580.1		-	ENST00000518642.1	Silent	SNP	8 : 133595976 - 133595976 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	427	36
LSM14A	26065	broad.mit.edu	37	19	34685499	34685499	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:34685499C>T	ENST00000540746.2	+	2	356	c.238C>T	c.(238-240)Cca>Tca	p.P80S	LSM14A_ENST00000433627.5_Missense_Mutation_p.P80S|LSM14A_ENST00000544216.3_Missense_Mutation_p.P80S			Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	80					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGTTTGTGAGCCACCAAAACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	186	197			NA	NA	19		NA											NA				34685499		2203	4300	6503	SO:0001583	missense			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103	26065	26065			24489	protein-coding gene	gene with protein product		610677	chromosome 19 open reading frame 13, family with sequence similarity 61, member A, LSM14 homolog A (SCD6, S. cerevisiae)	C19orf13, FAM61A	NA	12477932	Standard	NM_015578	NM_015578	NA	Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000540746.2:c.238C>T	19.37:g.34685499C>T	ENSP00000446451:p.Pro80Ser	NA	Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	37		.	.	.	.	.	.	.	.	.	.	C	25.3	4.619262	0.87460	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.33216	1.42;1.42;1.45	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.54323	1.7	0.80722	D	1	P;D;D	0.69078	0.624;0.997;0.995	P;D;D	0.68192	0.525;0.932;0.956	T	0.32481	-0.9905	10	0.33940	T	0.23	-0.7743	19.5786	0.95455	0.0:1.0:0.0:0.0	.	80;80;80	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	80	ENSP00000446271:P80S;ENSP00000413964:P80S;ENSP00000446451:P80S	ENSP00000314768:P80S	P	+	1	0	LSM14A	39377339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.042000	0.70996	2.711000	0.92665	0.655000	0.94253	CCA	LSM14A-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451575.2		+	ENST00000540746.2	Missense_Mutation	SNP	19 : 34685499 - 34685499 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	813	108
LSS	4047	broad.mit.edu	37	21	47614458	47614458	+	Silent	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr21:47614458G>T	ENST00000397728.3	-	20	2013	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	LSS_ENST00000522411.1_Silent_p.A634A|LSS_ENST00000457828.2_Silent_p.A565A|LSS_ENST00000356396.4_Silent_p.A645A	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	645					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCTGGGACTGGGCACTCTGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(114;955 2313 34923 50507)							NA				0													104	82	90			NA	NA	21		NA											NA				47614458		2203	4300	6503	SO:0001819	synonymous_variant			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	4047	4047	5.4.99.7		6708	protein-coding gene	gene with protein product		600909			NA	7639730, 8655142	Standard		NM_001001438	NA	Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1935C>A	21.37:g.47614458G>T		NA	D3DSN0|Q8IYL6|Q9UEZ1	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779646	0.02929	.	.	ENSG00000160285	ENST00000419093	.	.	.	5.07	1.18	0.20946	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.22873	N	0.998627	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	.	5.5508	0.17089	0.282:0.0:0.5927:0.1253	.	.	.	.	T	13	.	.	P	-	1	0	LSS	46438886	0.003000	0.15002	0.004000	0.12327	0.120000	0.20174	0.464000	0.21988	0.009000	0.14813	-0.727000	0.03589	CCA	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207274.2		-	ENST00000397728.3	Silent	SNP	21 : 47614458 - 47614458 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	219	43
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	G	T	rs146595343	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:67522730G>T	ENST00000590474.1	+	10	1048	c.761G>T	c.(760-762)cGa>cTa	p.R254L	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	254	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R254L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											100	101	100			NA	NA	17		NA											NA				67522730		2203	4300	6503	SO:0001583	missense			U39064	CCDS11686.1	17q	2011-06-09					5608	5608		Mitogen-activated protein kinase cascade / Kinase kinases	6846	protein-coding gene	gene with protein product	protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)	601254		PRKMK6	NA	8621675	Standard	NM_002758	XM_005257515	NA	Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.761G>T	17.37:g.67522730G>T	ENSP00000468348:p.Arg254Leu	NA		37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299264	0.81025	.	.	ENSG00000108984	ENST00000359094	.	.	.	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061266	0.64402	D	0.000007	T	0.67590	0.2909	L	0.38531	1.155	0.53688	D	0.999975	P	0.39903	0.694	P	0.51777	0.679	T	0.59637	-0.7417	8	.	.	.	-17.1079	19.4236	0.94732	0.0:0.0:1.0:0.0	.	254	P52564	MP2K6_HUMAN	L	254	.	.	R	+	2	0	MAP2K6	65034325	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.365000	0.52335	2.937000	0.99478	0.650000	0.86243	CGA	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450689.1		+	ENST00000590474.1	Missense_Mutation	SNP	17 : 67522730 - 67522730 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	637	75
MAP3K10	4294	broad.mit.edu	37	19	40711993	40711993	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:40711993G>A	ENST00000253055.3	+	5	1652	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	455	Arg/Lys-rich (basic).				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTCCGCAAGCGCAAGGGCAAC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4404		0,0,2202	22	23	23		1364	4.5	1	19		23	1,8599		0,1,4299	no	missense	MAP3K10	NM_002446.3	29	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	455/955	40711993	1,13003	2202	4300	6502	SO:0001583	missense			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		4294	4294	2.7.11.1	Mitogen-activated protein kinase cascade / Kinase kinase kinases	6849	protein-coding gene	gene with protein product	MKN28 kinase, mixed lineage kinase 2, MKN28 derived nonreceptor_type serine/threonine kinase	600137		MLK2	NA	8536694, 7731697	Standard	NM_002446	NM_002446	NA	Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1364G>A	19.37:g.40711993G>A	ENSP00000253055:p.Arg455His	NA	Q12761|Q14871	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010501	0.93346	0.0	1.16E-4	ENSG00000130758	ENST00000253055	T	0.12672	2.66	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.80508	2.5	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	15.1095	0.72343	0.0:0.0:1.0:0.0	.	455	Q02779	M3K10_HUMAN	H	455	ENSP00000253055:R455H	ENSP00000253055:R455H	R	+	2	0	MAP3K10	45403833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.803000	0.99136	2.204000	0.70986	0.491000	0.48974	CGC	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462552.1		+	ENST00000253055.3	Missense_Mutation	SNP	19 : 40711993 - 40711993 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	171	31
MCM3	4172	broad.mit.edu	37	6	52146932	52146932	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52146932A>G	ENST00000596288.1	-	4	604	c.577T>C	c.(577-579)Tgt>Cgt	p.C193R	MCM3_ENST00000229854.7_Missense_Mutation_p.C148R|MCM3_ENST00000419835.2_Missense_Mutation_p.C102R	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	148					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTAGCAGGACAGTAGTGGACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	142	149			NA	NA	6		NA											NA				52146932		2203	4300	6503	SO:0001583	missense			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118	4172	4172			6945	protein-coding gene	gene with protein product		602693	minichromosome maintenance deficient (S. cerevisiae) 3, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)		NA	1549468	Standard		NM_002388	NA	Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000596288.1:c.577T>C	6.37:g.52146932A>G	ENSP00000472940:p.Cys193Arg	NA	Q92660|Q9BTR3|Q9NUE7	37	CCDS4940.2	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879725	0.72294	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.20200	2.09;2.09	5.69	5.69	0.88448	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	T	0.67902	-0.5550	10	0.87932	D	0	-9.9587	15.9495	0.79823	1.0:0.0:0.0:0.0	.	102;148	B4DUQ9;P25205	.;MCM3_HUMAN	R	148;102	ENSP00000229854:C148R;ENSP00000388647:C102R	ENSP00000229854:C148R	C	-	1	0	MCM3	52254891	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	9.242000	0.95408	2.173000	0.68751	0.460000	0.39030	TGT	MCM3-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040897.3		-	ENST00000596288.1	Missense_Mutation	SNP	6 : 52146932 - 52146932 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	607	76
MROH6	642475	broad.mit.edu	37	8	144650380	144650380	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:144650380G>T	ENST00000398882.3	-	11	1952	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	MROH6_ENST00000524906.1_De_novo_Start_InFrame|MROH6_ENST00000534459.1_De_novo_Start_InFrame|MROH6_ENST00000533679.1_Intron	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6	NA											NA						AACTCCTCCAGCAGGCCCCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	28	27			NA	NA	8		NA											NA				144650380		1952	4143	6095	SO:0001583	missense			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839	642475	642475		maestro heat-like repeat containing	27814	protein-coding gene	gene with protein product			chromosome 8 open reading frame 73	C8orf73	NA	12477932	Standard	NM_001100878	NM_001100878	NA	Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1696C>A	8.37:g.144650380G>T	ENSP00000381857:p.Leu566Met	NA		37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344607	0.41498	.	.	ENSG00000204839	ENST00000398882	T	0.52295	0.67	4.82	3.73	0.42828	Armadillo-type fold (1);	.	.	.	.	T	0.56645	0.1999	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.53092	-0.8487	9	0.30854	T	0.27	-35.1542	6.1398	0.20253	0.1112:0.0:0.699:0.1898	.	566	A6NGR9	CH073_HUMAN	M	566	ENSP00000381857:L566M	ENSP00000381857:L566M	L	-	1	2	C8orf73	144721523	0.987000	0.35691	1.000000	0.80357	0.480000	0.33159	1.228000	0.32588	2.232000	0.73038	0.448000	0.29417	CTG	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382330.3		-	ENST00000398882.3	Missense_Mutation	SNP	8 : 144650380 - 144650380 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	131	21
MRPL48	51642	broad.mit.edu	37	11	73555970	73555980	+	Frame_Shift_Del	DEL	CCCAGTATGTT	CCCAGTATGTT	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	CCCAGTATGTT	CCCAGTATGTT	-	-	CCCAGTATGTT	CCCAGTATGTT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:73555970_73555980delCCCAGTATGTT	ENST00000411840.2	+	7	650_660	c.23_33delCCCAGTATGTT	c.(22-33)gcccagtatgttfs	p.AQYV8fs	MRPL48_ENST00000310614.7_Frame_Shift_Del_p.AQYV107fs|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs|MRPL48_ENST00000314282.7_Frame_Shift_Del_p.AQYV8fs			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	107					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						GAGAGTTATGCCCAGTATGTTCACAACCTCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581	51642	51642		Mitochondrial ribosomal proteins / large subunits	16653	protein-coding gene	gene with protein product		611853			NA	10810093	Standard	NM_016055	NM_016055	NA	Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000411840.2:c.23_33delCCCAGTATGTT	11.37:g.73555970_73555980delCCCAGTATGTT	ENSP00000399076:p.Ala8fs	NA	Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	37																																																																																				MRPL48-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397739.1		+	ENST00000411840.2	Frame_Shift_Del	DEL	11 : 73555970 - 73555980 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	241	40
MYO3B	140469	broad.mit.edu	37	2	171323216	171323216	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:171323216G>C	ENST00000408978.4	+	25	3152	c.3009G>C	c.(3007-3009)gtG>gtC	p.V1003V	MYO3B_ENST00000409044.3_Silent_p.V1003V|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000334231.6_Silent_p.V1012V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1003	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGAATTTGTGAAAAGGTCAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	61	61			NA	NA	2		NA											NA				171323216		1934	4154	6088	SO:0001819	synonymous_variant				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909	140469	140469		Myosins / Myosin superfamily : Class III	15576	protein-coding gene	gene with protein product		610040			NA		Standard		NM_001083615	NA	Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3009G>C	2.37:g.171323216G>C		NA	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	37	CCDS42773.1																																																																																			MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333410.1		+	ENST00000408978.4	Silent	SNP	2 : 171323216 - 171323216 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	492	65
NEK10	152110	broad.mit.edu	37	3	27297832	27297832	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27297832T>C	ENST00000429845.2	-	24	2407	c.2045A>G	c.(2044-2046)gAa>gGa	p.E682G	NEK10_ENST00000341435.5_Missense_Mutation_p.E682G|NEK10_ENST00000357467.2_Missense_Mutation_p.E79G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	682	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTACTGTTTTCTTGTTTTTG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	3		NA											NA				27297832		2202	4300	6502	SO:0001583	missense			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491	152110	152110			18592	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)- related kinase 10		NA	15289607	Standard	NM_152534	NM_199347	NA	Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2045A>G	3.37:g.27297832T>C	ENSP00000395849:p.Glu682Gly	NA	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.852640|2.852640	0.51270|0.51270	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435|ENST00000424275	T;T|.	0.66638|.	-0.22;-0.22|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.58061|0.58061	0.2096|0.2096	L|L	0.41961|0.41961	1.31|1.31	0.39166|0.39166	D|D	0.962504|0.962504	B;B|.	0.26635|.	0.155;0.042|.	B;B|.	0.18871|.	0.022;0.023|.	T|T	0.58707|0.58707	-0.7589|-0.7589	9|5	0.48119|.	T|.	0.1|.	.|.	12.4529|12.4529	0.55686|0.55686	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	682;79|.	Q6ZWH5;Q8N774|.	NEK10_HUMAN;.|.	G|E	79;682|169	ENSP00000350059:E79G;ENSP00000343847:E682G|.	ENSP00000343847:E682G|.	E|K	-|-	2|1	0|0	NEK10|NEK10	27272836|27272836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.508000|5.508000	0.67006|0.67006	1.984000|1.984000	0.57885|0.57885	0.482000|0.482000	0.46254|0.46254	GAA|AAA	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000438156.1		-	ENST00000429845.2	Missense_Mutation	SNP	3 : 27297832 - 27297832 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	154	15
NLRP5	126206	broad.mit.edu	37	19	56565133	56565133	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56565133C>T	ENST00000390649.3	+	13	3258	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1086						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGCGCTGTGCGAGGGACTGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	99	98			NA	NA	19		NA											NA				56565133		2101	4218	6319	SO:0001819	synonymous_variant			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487	126206	126206		Nucleotide-binding domain and leucine rich repeat containing	21269	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5	609658	NACHT, leucine rich repeat and PYD containing 5	NALP5	NA	12563287, 11925379	Standard	NM_153447	NM_153447	NA	Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3258C>T	19.37:g.56565133C>T		NA	A8MTY4|Q86W29	37	CCDS12938.1																																																																																			NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313735.1		+	ENST00000390649.3	Silent	SNP	19 : 56565133 - 56565133 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	436	59
NOL6	65083	broad.mit.edu	37	9	33468069	33468069	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:33468069C>T	ENST00000379471.2	-	11	1470	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.M409I			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	461					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTTTGGGAGTCATCAACAGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	123	124			NA	NA	9		NA											NA				33468069		2203	4300	6503	SO:0001583	missense			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271	65083	65083			19910	protein-coding gene	gene with protein product		611532	nucleolar protein family 6 (RNA-associated)		NA	11895476, 15590835	Standard	NM_022917	NM_022917	NA	Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1383G>A	9.37:g.33468069C>T	ENSP00000368784:p.Met461Ile	NA	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544742	0.86022	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.46	5.46	0.80206	.	0.069975	0.85682	D	0.000000	T	0.49304	0.1549	L	0.49350	1.555	0.80722	D	1	D;D;D;P;D	0.63046	0.992;0.99;0.99;0.532;0.992	D;P;P;B;D	0.63033	0.91;0.853;0.853;0.259;0.91	T	0.27606	-1.0069	10	0.10377	T	0.69	.	17.0911	0.86622	0.0:1.0:0.0:0.0	.	409;458;461;461;461	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	I	461;461;461;17;461;409	ENSP00000313978:M461I;ENSP00000297990:M461I;ENSP00000368784:M461I;ENSP00000395915:M409I	ENSP00000297990:M461I	M	-	3	0	NOL6	33458069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.937000	0.75898	2.575000	0.86900	0.561000	0.74099	ATG	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NA	protein_coding	OTTHUMT00000001019.2		-	ENST00000379471.2	Missense_Mutation	SNP	9 : 33468069 - 33468069 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	738	35
NOS2	4843	broad.mit.edu	37	17	26108128	26108128	+	Silent	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:26108128G>T	ENST00000313735.6	-	8	1031	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	266				R -> H (in Ref. 8; AAC19133).	arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCCAGCATAGCGGATGAGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	79	83			NA	NA	17		NA											NA				26108128		2203	4300	6503	SO:0001819	synonymous_variant			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	4843	4843	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	nitric oxide synthase 2A (inducible, hepatocytes)	NOS2A	NA	7682706	Standard	NM_000625	NM_000625	NA	Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.798C>A	17.37:g.26108128G>T		NA	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	37	CCDS11223.1																																																																																			NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255597.1		-	ENST00000313735.6	Silent	SNP	17 : 26108128 - 26108128 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	406	13
NTMT1	28989	broad.mit.edu	37	9	132395107	132395107	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132395107T>A	ENST00000372486.1	+	2	474	c.125T>A	c.(124-126)aTc>aAc	p.I42N	NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.I42N|NTMT1_ENST00000372481.3_Missense_Mutation_p.I42N|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.I42N|NTMT1_ENST00000372483.4_Missense_Mutation_p.I42N					N-terminal Xaa-Pro-Lys N-methyltransferase 1	NA											NA						AGCATCGACATCAACAGCTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	140	146			NA	NA	9		NA											NA				132395107		2203	4300	6503	SO:0001583	missense			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	28989	28989	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	chromosome 9 open reading frame 32, methyltransferase like 11A	C9orf32, METTL11A	NA	20481588	Standard	NM_014064	XM_005251939	NA	Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.125T>A	9.37:g.132395107T>A	ENSP00000361564:p.Ile42Asn	NA		37	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651900	0.88056	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.15	5.15	0.70609	.	0.190467	0.43919	D	0.000514	T	0.60586	0.2280	M	0.89904	3.07	0.58432	D	0.999998	D;D	0.76494	0.999;0.994	D;D	0.65443	0.935;0.927	T	0.69687	-0.5078	10	0.66056	D	0.02	8.0E-4	13.8086	0.63248	0.0:0.0:0.0:1.0	.	42;42	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	N	42	ENSP00000361564:I42N;ENSP00000361561:I42N;ENSP00000361559:I42N;ENSP00000361558:I42N	ENSP00000361558:I42N	I	+	2	0	METTL11A	131434928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.160000	0.71862	1.954000	0.56735	0.459000	0.35465	ATC	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054589.1		+	ENST00000372486.1	Missense_Mutation	SNP	9 : 132395107 - 132395107 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	774	123
OCRL	4952	broad.mit.edu	37	X	128696369	128696369	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128696369G>A	ENST00000371113.4	+	11	1113	c.948G>A	c.(946-948)ctG>ctA	p.L316L	OCRL_ENST00000357121.5_Silent_p.L316L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	316					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTTCAACTGGTGCGCCTTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	157	164			NA	NA	X		NA											NA				128696369		2203	4300	6503	SO:0001819	synonymous_variant			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126	4952	4952			8108	protein-coding gene	gene with protein product		300535			NA		Standard	NM_000276	NM_001587	NA	Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.948G>A	X.37:g.128696369G>A		NA	A6NKI1|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	37	CCDS35393.1																																																																																			OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058917.1		+	ENST00000371113.4	Silent	SNP	X : 128696369 - 128696369 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	361	86
OPRL1	4987	broad.mit.edu	37	20	62729444	62729444	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:62729444T>A	ENST00000349451.3	+	5	935	c.523T>A	c.(523-525)Tgg>Agg	p.W175R	OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R|OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	175					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTGGCCATCTGGGCCCTGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	20		NA											NA				62729444		2203	4296	6499	SO:0001583	missense				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510	4987	4987		GPCR / Class A : Opioid receptors	8155	protein-coding gene	gene with protein product	LC132 receptor-like, orphanin FQ receptor, kappa3-related opioid receptor	602548			NA	8137918	Standard	NM_182647	NM_000913	NA	Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.523T>A	20.37:g.62729444T>A	ENSP00000336764:p.Trp175Arg	NA	Q8TD34|Q8WYH9|Q9H4K4	37	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796426	0.70567	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	D;D;D	0.88896	-2.44;-2.44;-2.44	5.0	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.062472	0.64402	N	0.000001	D	0.96864	0.8976	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.96110	0.9076	10	0.87932	D	0	.	10.6469	0.45626	0.0:0.0765:0.0:0.9235	.	170;175	P41146-2;P41146	.;OPRX_HUMAN	R	175	ENSP00000336843:W175R;ENSP00000347848:W175R;ENSP00000336764:W175R	ENSP00000336843:W175R	W	+	1	0	OPRL1	62199888	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.942000	0.63547	0.764000	0.33197	0.369000	0.22263	TGG	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080295.1		+	ENST00000349451.3	Missense_Mutation	SNP	20 : 62729444 - 62729444 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	596	58
OR10K2	391107	broad.mit.edu	37	1	158390123	158390123	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158390123G>A	ENST00000314902.2	-	1	533	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAATGTCACAGAAGAAGTGAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	139	146			NA	NA	1		NA											NA				158390123		2203	4300	6503	SO:0001819	synonymous_variant			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708	391107	391107		GPCR / Class A : Olfactory receptors	14826	protein-coding gene	gene with protein product					NA		Standard	NM_001004476	NM_001004476	NA	Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.534C>T	1.37:g.158390123G>A		NA		37	CCDS30896.1																																																																																			OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051854.1		-	ENST00000314902.2	Silent	SNP	1 : 158390123 - 158390123 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	654	104
OR1J2	26740	broad.mit.edu	37	9	125273681	125273681	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:125273681A>G	ENST00000335302.5	+	1	601	c.601A>G	c.(601-603)Aca>Gca	p.T201A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGTCATGTTCACAGTAGGGGT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	116	125			NA	NA	9		NA											NA				125273681		2203	4300	6503	SO:0001583	missense				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233	26740	26740		GPCR / Class A : Olfactory receptors	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5	NA		Standard		XM_005251920	NA	Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.601A>G	9.37:g.125273681A>G	ENSP00000335575:p.Thr201Ala	NA	A3KFL9|Q6IF14|Q96R90|Q9NZP1	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897443	0.33535	.	.	ENSG00000197233	ENST00000335302	T	0.00051	8.81	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.190676	0.25391	U	0.031011	T	0.00144	0.0004	N	0.20401	0.57	0.09310	N	1	B	0.14438	0.01	B	0.26693	0.072	T	0.44907	-0.9297	10	0.38643	T	0.18	.	13.7117	0.62672	1.0:0.0:0.0:0.0	.	201	Q8NGS2	OR1J2_HUMAN	A	201	ENSP00000335575:T201A	ENSP00000335575:T201A	T	+	1	0	OR1J2	124313502	0.000000	0.05858	0.174000	0.22961	0.009000	0.06853	0.633000	0.24598	2.085000	0.62840	0.529000	0.55759	ACA	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053932.1		+	ENST00000335302.5	Missense_Mutation	SNP	9 : 125273681 - 125273681 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	427	78
OR6Y1	391112	broad.mit.edu	37	1	158517108	158517108	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158517108G>T	ENST00000302617.3	-	1	787	c.788C>A	c.(787-789)aCc>aAc	p.T263N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACGGGCATAGGTGAAAAGTGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	191	194			NA	NA	1		NA											NA				158517108		2203	4300	6503	SO:0001583	missense			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532	391112	391112		GPCR / Class A : Olfactory receptors	14823	protein-coding gene	gene with protein product				OR6Y2	NA		Standard	NM_001005189	NM_001005189	NA	Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.788C>A	1.37:g.158517108G>T	ENSP00000304807:p.Thr263Asn	NA	Q6IFS0	37	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625712	0.46840	.	.	ENSG00000197532	ENST00000302617	T	0.00145	8.67	5.34	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.00109	0.0003	L	0.35542	1.07	0.23649	N	0.997204	D	0.89917	1.0	D	0.79108	0.992	T	0.54186	-0.8331	10	0.41790	T	0.15	.	9.8124	0.40831	0.1588:0.0:0.8412:0.0	.	263	Q8NGX8	OR6Y1_HUMAN	N	263	ENSP00000304807:T263N	ENSP00000304807:T263N	T	-	2	0	OR6Y1	156783732	0.009000	0.17119	0.996000	0.52242	0.943000	0.58893	0.043000	0.13971	2.763000	0.94921	0.655000	0.94253	ACC	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051844.1		-	ENST00000302617.3	Missense_Mutation	SNP	1 : 158517108 - 158517108 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	648	100
OTUD7B	56957	broad.mit.edu	37	1	149920861	149920869	+	Splice_Site	DEL	CCTGGCTTA	CCTGGCTTA	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	CCTGGCTTA	CCTGGCTTA	-	-	CCTGGCTTA	CCTGGCTTA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:149920861_149920869delCCTGGCTTA	ENST00000369135.4	-	10	1533		c.e10+1			NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAAGACTAGGCCTGGCTTACCTGGCCAAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522	56957	56957		OTU domain containing	16683	protein-coding gene	gene with protein product		611748	zinc finger, A20 domain containing 1, OTU domain containing 7B	ZA20D1	NA	11463333, 23827681	Standard	NM_020205	NM_020205	NA	Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1238+1TAAGCCAGG>-	1.37:g.149920861_149920869delCCTGGCTTA		NA	D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	37	CCDS41389.1																																																																																			OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034146.3	Intron	-	ENST00000369135.4	Splice_Site	DEL	1 : 149920861 - 149920869 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	353	26
PET112	0	broad.mit.edu	37	4	152638043	152638043	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:152638043C>T	ENST00000515812.1	-	4	641	c.625G>A	c.(625-627)Gat>Aat	p.D209N	PET112_ENST00000512306.1_Missense_Mutation_p.D209N|PET112_ENST00000263985.6_Missense_Mutation_p.D209N			O75879	GATB_HUMAN		209						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGTTCAAATCAATGAGCGTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	131	138			NA	NA	4		NA											NA				152638043		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000515812.1:c.625G>A	4.37:g.152638043C>T	ENSP00000426859:p.Asp209Asn	NA	Q9P0S6|Q9Y2B8	37		.	.	.	.	.	.	.	.	.	.	C	32	5.158723	0.94686	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.66638	-0.07;-0.22;0.22	6.08	6.08	0.98989	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87023	0.2130	10	0.87932	D	0	-23.3706	20.6647	0.99678	0.0:1.0:0.0:0.0	.	209;209	D6RDU9;O75879	.;GATB_HUMAN	N	209	ENSP00000263985:D209N;ENSP00000426859:D209N;ENSP00000420831:D209N	ENSP00000263985:D209N	D	-	1	0	PET112	152857493	1.000000	0.71417	0.909000	0.35828	0.866000	0.49608	7.544000	0.82117	2.890000	0.99128	0.655000	0.94253	GAT	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365672.1		-	ENST00000515812.1	Missense_Mutation	SNP	4 : 152638043 - 152638043 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	583	61
PIGO	84720	broad.mit.edu	37	9	35095294	35095294	+	Missense_Mutation	SNP	A	A	T	rs148704151		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:35095294A>T	ENST00000378617.3	-	2	663	c.269T>A	c.(268-270)gTg>gAg	p.V90E	PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.V90E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	90					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTCTAGGCACGTGTGAATG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	120	120			NA	NA	9		NA											NA				35095294		2203	4300	6503	SO:0001583	missense			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282	84720	84720		Phosphatidylinositol glycan anchor biosynthesis	23215	protein-coding gene	gene with protein product		614730	phosphatidylinositol glycan, class O		NA	10781593	Standard	NM_032634	NM_032634	NA	Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.269T>A	9.37:g.35095294A>T	ENSP00000367880:p.Val90Glu	NA	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	A	6.740	0.505242	0.12822	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.54479	0.58;0.57;0.57;0.58	5.18	-3.57	0.04612	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.152970	0.06125	N	0.669484	T	0.29389	0.0732	N	0.13235	0.315	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.15665	-1.0429	10	0.22109	T	0.4	-30.4467	5.0997	0.14753	0.304:0.4722:0.1382:0.0856	.	90;90	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	E	90	ENSP00000298004:V90E;ENSP00000367880:V90E;ENSP00000339382:V90E;ENSP00000354678:V90E	ENSP00000298004:V90E	V	-	2	0	PIGO	35085294	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.567000	0.05916	-0.401000	0.07644	-0.400000	0.06385	GTG	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052284.1		-	ENST00000378617.3	Missense_Mutation	SNP	9 : 35095294 - 35095294 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	717	48
PITRM1	10531	broad.mit.edu	37	10	3185639	3185639	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:3185639C>A	ENST00000224949.4	-	23	2621	c.2587G>T	c.(2587-2589)Gtg>Ttg	p.V863L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Missense_Mutation_p.V864L|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L			E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	765					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACGTAATTCACCGGGAAGGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	117	115			NA	NA	10		NA											NA				3185639		2060	4199	6259	SO:0001583	missense			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959	10531	10531			17663	protein-coding gene	gene with protein product	PreP peptidasome		pitrilysin metalloproteinase 1		NA	1036083, 10470851, 16849325	Standard		NM_014889	NA	Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2587G>T	10.37:g.3185639C>A	ENSP00000224949:p.Val863Leu	NA		37	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.85|19.85	3.903997|3.903997	0.72754|0.72754	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.|T;T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96;0.96	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72045|0.72045	0.3412|0.3412	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79784	.|0.927;0.991;0.993;0.993;0.993	T|T	0.79347|0.79347	-0.1841|-0.1841	5|10	.|0.87932	.|D	.|0	-29.6242|-29.6242	18.5462|18.5462	0.91047|0.91047	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|856;765;864;863;856	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	V|L	196|863;856;864;421;765;44	.|ENSP00000224949:V863L;ENSP00000370377:V864L;ENSP00000370382:V421L;ENSP00000401201:V765L;ENSP00000399307:V44L	.|ENSP00000224949:V863L	G|V	-|-	2|1	0|0	PITRM1|PITRM1	3175639|3175639	1.000000|1.000000	0.71417|0.71417	0.211000|0.211000	0.23655|0.23655	0.121000|0.121000	0.20230|0.20230	7.541000|7.541000	0.82084|0.82084	2.373000|2.373000	0.80994|0.80994	0.561000|0.561000	0.74099|0.74099	GGT|GTG	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046469.2		-	ENST00000224949.4	Missense_Mutation	SNP	10 : 3185639 - 3185639 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	352	19
PLB1	151056	broad.mit.edu	37	2	28849295	28849295	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:28849295G>T	ENST00000327757.5	+	51	3624	c.3580G>T	c.(3580-3582)Gac>Tac	p.D1194Y	PLB1_ENST00000422425.2_Splice_Site_p.D1183Y|PLB1_ENST00000541605.1_Splice_Site_p.D159Y	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1194	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCCCTCAGGACATCAACCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	105	111			NA	NA	2		NA											NA				28849295		2203	4300	6503	SO:0001630	splice_region_variant				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	151056	151056	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179			NA	12150957	Standard		NM_153021	NA	Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3580-1G>T	2.37:g.28849295G>T		NA	A8KAX2|Q53S03|Q8IUP7|Q96DP9	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964975	0.53507	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	T;T;T	0.15372	2.43;2.43;2.43	5.48	1.65	0.23941	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.593899	0.17524	N	0.171149	T	0.19248	0.0462	N	0.24115	0.695	0.29330	N	0.866772	D;D	0.62365	0.966;0.991	P;P	0.60541	0.627;0.876	T	0.09015	-1.0694	9	.	.	.	-5.1346	7.0461	0.25046	0.3801:0.0:0.6199:0.0	.	1183;1194	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	Y	1194;1183;159	ENSP00000330442:D1194Y;ENSP00000416440:D1183Y;ENSP00000437426:D159Y	.	D	+	1	0	PLB1	28702799	0.999000	0.42202	0.989000	0.46669	0.685000	0.39939	0.871000	0.28023	0.026000	0.15269	0.561000	0.74099	GAC	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353348.2	Missense_Mutation	+	ENST00000327757.5	Splice_Site	SNP	2 : 28849295 - 28849295 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	317	36
PLK4	10733	broad.mit.edu	37	4	128804674	128804674	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:128804674A>G	ENST00000507249.1	+	4	509	c.303A>G	c.(301-303)ctA>ctG	p.L101L	PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000270861.5_Silent_p.L101L|PLK4_ENST00000515069.1_Silent_p.L101L|PLK4_ENST00000514379.1_Silent_p.L60L			O00444	PLK4_HUMAN	polo-like kinase 4	101	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTATCTAAAGAATAGAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(135;508 1718 19061 31832 42879)							NA				0													60	65	63			NA	NA	4		NA											NA				128804674		2201	4294	6495	SO:0001819	synonymous_variant			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731	NA	10733			11397	protein-coding gene	gene with protein product		605031	serine/threonine kinase 18, polo-like kinase 4 (Drosophila)	STK18	NA		Standard		NM_014264	NA	Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000507249.1:c.303A>G	4.37:g.128804674A>G		NA	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	37																																																																																				PLK4-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364138.1		+	ENST00000507249.1	Silent	SNP	4 : 128804674 - 128804674 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	425	101
PPOX	5498	broad.mit.edu	37	1	161139773	161139773	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161139773G>T	ENST00000367999.4	+	9	1212	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	316					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTGTAGCTGTGGTGAATCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	62	66			NA	NA	1		NA											NA				161139773		2203	4300	6503	SO:0001583	missense			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	5498	5498	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	variegate porphyria	VP	NA	8575762, 10457135	Standard	NM_000309	NM_000309	NA	Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.946G>T	1.37:g.161139773G>T	ENSP00000356978:p.Val316Leu	NA	D3DVG0|Q5VTW8	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401786	0.83120	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92805	-3.11;-3.11	5.43	5.43	0.79202	Amine oxidase (1);	0.060479	0.64402	D	0.000004	D	0.88753	0.6522	L	0.38838	1.175	0.80722	D	1	P;D;P	0.54047	0.506;0.964;0.618	P;P;B	0.51101	0.534;0.659;0.357	D	0.88229	0.2902	10	0.41790	T	0.15	-15.1906	14.6179	0.68562	0.0:0.0:1.0:0.0	.	283;154;316	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	L	316;316;283	ENSP00000343943:V316L;ENSP00000356978:V316L	ENSP00000343943:V316L	V	+	1	0	PPOX	159406397	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	7.018000	0.76406	2.823000	0.97156	0.650000	0.86243	GTG	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082993.1		+	ENST00000367999.4	Missense_Mutation	SNP	1 : 161139773 - 161139773 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	225	20
PRKDC	5591	broad.mit.edu	37	8	48744458	48744458	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:48744458G>A	ENST00000523565.1	-	0	8237				PRKDC_ENST00000314191.2_Silent_p.L2727L|PRKDC_ENST00000338368.3_Silent_p.L2727L			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGTCTGCGCAGTCGTAGTAGG	0.552		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													173	178	177			NA	NA	8		NA											NA				48744458		1980	4165	6145	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-5271C>T	8.37:g.48744458G>A		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37																																																																																				PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48744458 - 48744458 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	880	159
PRR22	163154	broad.mit.edu	37	19	5783339	5783339	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:5783339A>T	ENST00000419421.2	-	3	1023	c.919T>A	c.(919-921)Tgc>Agc	p.C307S		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	305										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGACCTCGCACAGGGTACCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	38			NA	NA	19		NA											NA				5783339		2199	4293	6492	SO:0001583	missense			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123	163154	163154			28354	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153359	NM_001134316	NA	Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.919T>A	19.37:g.5783339A>T	ENSP00000407653:p.Cys307Ser	NA		37	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	A	7.405	0.633633	0.14322	.	.	ENSG00000212123	ENST00000419421	T	0.41400	1.0	3.52	-2.21	0.06973	.	.	.	.	.	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.18263	0.021;0.021	T	0.28522	-1.0041	9	0.07482	T	0.82	.	3.7653	0.08620	0.3513:0.185:0.4637:0.0	.	307;305	E9PB31;Q8IZ63	.;PRR22_HUMAN	S	307	ENSP00000407653:C307S	ENSP00000407653:C307S	C	-	1	0	PRR22	5734339	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.854000	0.01664	-0.314000	0.08716	-0.736000	0.03550	TGC	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368523.1		-	ENST00000419421.2	Missense_Mutation	SNP	19 : 5783339 - 5783339 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	374	45
PTDSS1	9791	broad.mit.edu	37	8	97311970	97311970	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:97311970C>G	ENST00000517309.1	+	6	975	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	217					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGGTGGGATCAAGTCATTCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	207	216			NA	NA	8		NA											NA				97311970		2203	4300	6503	SO:0001583	missense			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471	9791	9791			9587	protein-coding gene	gene with protein product		612792			NA		Standard		NM_014754	NA	Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.649C>G	8.37:g.97311970C>G	ENSP00000430548:p.Gln217Glu	NA		37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783092	0.90282	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.43294	0.98;0.98;0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.54323	1.7	0.80722	D	1	P	0.46621	0.881	P	0.52710	0.707	T	0.45614	-0.9249	10	0.38643	T	0.18	-13.9545	17.8705	0.88810	0.0:1.0:0.0:0.0	.	217	P48651	PTSS1_HUMAN	E	217;71;14	ENSP00000430548:Q217E;ENSP00000401248:Q71E;ENSP00000430928:Q14E	ENSP00000401248:Q71E	Q	+	1	0	PTDSS1	97381146	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.818000	0.86416	2.648000	0.89879	0.650000	0.86243	CAA	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379743.2		+	ENST00000517309.1	Missense_Mutation	SNP	8 : 97311970 - 97311970 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1054	67
RAB3GAP2	25782	broad.mit.edu	37	1	220326745	220326745	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:220326745A>C	ENST00000358951.2	-	33	3765	c.3649T>G	c.(3649-3651)Tta>Gta	p.L1217V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1217					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.L1217V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACTTTCAATAAGAACTTGAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											115	115	115			NA	NA	1		NA											NA				220326745		2203	4300	6503	SO:0001583	missense			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873	25782	25782			17168	protein-coding gene	gene with protein product		609275			NA	15696165, 16532399, 24482476	Standard	NM_012414	NM_012414	NA	Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3649T>G	1.37:g.220326745A>C	ENSP00000351832:p.Leu1217Val	NA	O75872|Q9HAB0|Q9UFJ7|Q9UQ15	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816980	0.70912	.	.	ENSG00000118873	ENST00000358951	T	0.61627	0.09	5.69	3.39	0.38822	.	0.080791	0.49916	D	0.000135	T	0.64249	0.2581	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63510	-0.6621	10	0.66056	D	0.02	.	9.892	0.41296	0.8627:0.0:0.1373:0.0	.	1217;1217	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1217	ENSP00000351832:L1217V	ENSP00000351832:L1217V	L	-	1	2	RAB3GAP2	218393368	1.000000	0.71417	0.938000	0.37757	0.963000	0.63663	0.975000	0.29449	0.538000	0.28769	0.529000	0.55759	TTA	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090205.2		-	ENST00000358951.2	Missense_Mutation	SNP	1 : 220326745 - 220326745 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	499	92
RFX3	5991	broad.mit.edu	37	9	3271027	3271027	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:3271027T>C	ENST00000382004.3	-	11	1489	c.1178A>G	c.(1177-1179)gAt>gGt	p.D393G	RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	393					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGTAGTGCCATCAGTTGGAGT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	168	175			NA	NA	9		NA											NA				3271027		2203	4300	6503	SO:0001583	missense			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298	5991	5991			9984	protein-coding gene	gene with protein product		601337			NA	8289803	Standard	NM_002919	XM_005251534	NA	Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1178A>G	9.37:g.3271027T>C	ENSP00000371434:p.Asp393Gly	NA	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.806532	0.50421	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.08102	3.13;3.13;3.13	5.46	5.46	0.80206	.	0.096942	0.64402	D	0.000001	T	0.18173	0.0436	L	0.28400	0.85	0.80722	D	1	D;B;P	0.76494	0.999;0.008;0.57	D;B;B	0.68192	0.956;0.017;0.147	T	0.01397	-1.1365	10	0.46703	T	0.11	-13.5119	15.8559	0.78977	0.0:0.0:0.0:1.0	.	393;393;393	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	G	393	ENSP00000371434:D393G;ENSP00000351574:D393G;ENSP00000303847:D393G	ENSP00000303847:D393G	D	-	2	0	RFX3	3261027	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	7.624000	0.83124	2.211000	0.71520	0.524000	0.50904	GAT	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051545.1		-	ENST00000382004.3	Missense_Mutation	SNP	9 : 3271027 - 3271027 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	493	57
RHOBTB2	23221	broad.mit.edu	37	8	22864416	22864416	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:22864416C>G	ENST00000519685.1	+	7	1007	c.724C>G	c.(724-726)Cac>Gac	p.H242D	RHOBTB2_ENST00000251822.6_Missense_Mutation_p.H220D|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_001160036.1	NP_001153508.1	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	220					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGGAAGTCCCACCTCCGCAA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	8		NA											NA				22864416		2203	4300	6503	SO:0001583	missense			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853	23221	23221		BTB/POZ domain containing	18756	protein-coding gene	gene with protein product		607352			NA	11222756	Standard		NM_001160036	NA	Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000519685.1:c.724C>G	8.37:g.22864416C>G	ENSP00000427926:p.His242Asp	NA	D3DSR8|O94825|Q8N4A8|Q9BZK6	37	CCDS55210.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052210	0.75960	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09538	2.97;2.98;2.98	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.03394	-1.1041	10	0.72032	D	0.01	.	17.1413	0.86754	0.0:1.0:0.0:0.0	.	227;220;242	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	D	242;227;220	ENSP00000427926:H242D;ENSP00000429141:H227D;ENSP00000251822:H220D	ENSP00000251822:H220D	H	+	1	0	RHOBTB2	22920361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.368000	0.80403	0.563000	0.77884	CAC	RHOBTB2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375197.2		+	ENST00000519685.1	Missense_Mutation	SNP	8 : 22864416 - 22864416 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	717	93
RNF38	152006	broad.mit.edu	37	9	36390574	36390574	+	Translation_Start_Site	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:36390574G>C	ENST00000259605.6	-	2	159	c.52C>G	c.(52-54)Cct>Gct	p.P18A	RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000357058.3_De_novo_Start_OutOfFrame|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	18							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACCTTGTTAGGATGGCCAGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	120			NA	NA	9		NA											NA				36390574		2203	4300	6503	SO:0001583	missense				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075	152006	152006		RING-type (C3HC4) zinc fingers	18052	protein-coding gene	gene with protein product		612488			NA		Standard	NM_022781	XM_005251364	NA	Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.52C>G	9.37:g.36390574G>C	ENSP00000259605:p.Pro18Ala	NA	A6PVP9|B1AM82|Q7LB33|Q8N0Y0	37	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931570	0.52866	.	.	ENSG00000137075	ENST00000259605	T	0.13196	2.61	5.73	4.81	0.61882	.	0.311822	0.27258	N	0.020186	T	0.08268	0.0206	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14172	-1.0482	10	0.56958	D	0.05	-3.2253	12.6286	0.56644	0.0:0.1663:0.8337:0.0	.	18	Q9H0F5	RNF38_HUMAN	A	18	ENSP00000259605:P18A	ENSP00000259605:P18A	P	-	1	0	RNF38	36380574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.956000	0.49129	1.371000	0.46172	0.655000	0.94253	CCT	RNF38-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052422.3		-	ENST00000259605.6	Missense_Mutation	SNP	9 : 36390574 - 36390574 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	635	83
SCAF8	22828	broad.mit.edu	37	6	155123170	155123170	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:155123170C>T	ENST00000367178.3	+	7	1248	c.672C>T	c.(670-672)gcC>gcT	p.A224A	SCAF8_ENST00000367186.4_Silent_p.A290A|SCAF8_ENST00000417268.1_Silent_p.A224A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	224	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCTGCAGGCCCTAGATGCTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	83	83			NA	NA	6		NA											NA				155123170		2203	4300	6503	SO:0001819	synonymous_variant			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079	22828	22828		RNA binding motif (RRM) containing	20959	protein-coding gene	gene with protein product			RNA binding motif protein 16	RBM16	NA	10470851	Standard	NM_014892	NM_001286189	NA	Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.672C>T	6.37:g.155123170C>T		NA	Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	37	CCDS5247.1																																																																																			SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042798.1		+	ENST00000367178.3	Silent	SNP	6 : 155123170 - 155123170 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	427	91
SCGN	10590	broad.mit.edu	37	6	25670278	25670278	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670278A>T	ENST00000377961.2	+	6	613	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	149	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCTGAGGCTAAACTGGAAGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	140	139			NA	NA	6		NA											NA				25670278		2203	4300	6503	SO:0001587	stop_gained			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689	10590	10590		EF-hand domain containing	16941	protein-coding gene	gene with protein product	calbindin-like	609202			NA	10811645	Standard		NM_006998	NA	Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.445A>T	6.37:g.25670278A>T	ENSP00000367197:p.Lys149*	NA	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	38	6.687892	0.97764	.	.	ENSG00000079689	ENST00000377961	.	.	.	5.6	4.45	0.53987	.	0.042749	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8856	0.41260	0.9171:0.0:0.0829:0.0	.	.	.	.	X	149	.	ENSP00000367197:K149X	K	+	1	0	SCGN	25778257	1.000000	0.71417	0.760000	0.31359	0.974000	0.67602	4.953000	0.63624	0.958000	0.37956	0.460000	0.39030	AAA	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040067.1		+	ENST00000377961.2	Nonsense_Mutation	SNP	6 : 25670278 - 25670278 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	758	123
SCGN	10590	broad.mit.edu	37	6	25670281	25670281	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670281C>A	ENST00000377961.2	+	6	616	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	150	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAGGCTAAACTGGAAGAATA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	138	137			NA	NA	6		NA											NA				25670281		2203	4300	6503	SO:0001583	missense			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689	10590	10590		EF-hand domain containing	16941	protein-coding gene	gene with protein product	calbindin-like	609202			NA	10811645	Standard		NM_006998	NA	Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.448C>A	6.37:g.25670281C>A	ENSP00000367197:p.Leu150Met	NA	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356514	0.82243	.	.	ENSG00000079689	ENST00000377961	T	0.72615	-0.67	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83576	0.0115	10	0.72032	D	0.01	.	18.3956	0.90497	0.0:1.0:0.0:0.0	.	150	O76038	SEGN_HUMAN	M	150	ENSP00000367197:L150M	ENSP00000367197:L150M	L	+	1	2	SCGN	25778260	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.209000	0.42806	2.618000	0.88619	0.563000	0.77884	CTG	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040067.1		+	ENST00000377961.2	Missense_Mutation	SNP	6 : 25670281 - 25670281 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	593	100
SERPINB1	1992	broad.mit.edu	37	6	2838132	2838132	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:2838132G>A	ENST00000380739.5	-	4	610	c.408C>T	c.(406-408)gtC>gtT	p.V136V	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	136					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCTGTCCTTTGACCCACTGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													337	303	314			NA	NA	6		NA											NA				2838132		2203	4300	6503	SO:0001819	synonymous_variant			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355	1992	1992		Serine (or cysteine) peptidase inhibitors	3311	protein-coding gene	gene with protein product		130135	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1	ELANH2	NA	1376927, 24172014	Standard		NM_030666	NA	Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.408C>T	6.37:g.2838132G>A		NA	A8K5L2|Q53FB9|Q5W0E1|Q9UDF8	37	CCDS4477.1																																																																																			SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039637.1		-	ENST00000380739.5	Silent	SNP	6 : 2838132 - 2838132 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1256	110
SHARPIN	81858	broad.mit.edu	37	8	145154701	145154701	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:145154701C>G	ENST00000398712.2	-	4	1000	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	188	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCCCCCTTCTCGTCTCCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	50	48			NA	NA	8		NA											NA				145154701		2034	4175	6209	SO:0001583	missense			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526	81858	81858			25321	protein-coding gene	gene with protein product		611885			NA	11178875, 12753155	Standard	NM_030974	NM_030974	NA	Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.564G>C	8.37:g.145154701C>G	ENSP00000381698:p.Glu188Asp	NA	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	37	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518604	0.27211	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.34472	1.78;1.36	4.25	4.25	0.50352	.	0.633863	0.16154	N	0.227113	T	0.35008	0.0917	M	0.67953	2.075	0.09310	N	1	P	0.46395	0.877	B	0.37650	0.255	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.0205	0.53340	0.0:1.0:0.0:0.0	.	188	Q9H0F6	SHRPN_HUMAN	D	188	ENSP00000381698:E188D;ENSP00000352551:E188D	ENSP00000352551:E188D	E	-	3	2	SHARPIN	145226689	0.000000	0.05858	0.022000	0.16811	0.642000	0.38348	-0.083000	0.11286	2.207000	0.71202	0.462000	0.41574	GAG	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382901.1		-	ENST00000398712.2	Missense_Mutation	SNP	8 : 145154701 - 145154701 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	496	47
SLC17A9	63910	broad.mit.edu	37	20	61591929	61591929	+	Silent	SNP	C	C	T	rs144534537	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:61591929C>T	ENST00000370349.3	+	5	657	c.453C>T	c.(451-453)agC>agT	p.S151S	SLC17A9_ENST00000370351.4_Silent_p.S157S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	157					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCACCTACAGCATCGTGGGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	58	55			NA	NA	20		NA											NA				61591929		1971	4152	6123	SO:0001819	synonymous_variant			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194	63910	63910		Solute carriers	16192	protein-coding gene	gene with protein product		612107	chromosome 20 open reading frame 59, solute carrier family 17, member 9	C20orf59	NA	18375752	Standard	NM_022082	NM_022082	NA	Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370349.3:c.453C>T	20.37:g.61591929C>T		NA	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	37																																																																																				SLC17A9-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000080106.1		+	ENST00000370349.3	Silent	SNP	20 : 61591929 - 61591929 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	207	22
SLC25A13	10165	broad.mit.edu	37	7	95818665	95818665	+	Silent	SNP	G	G	T	rs142308242		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:95818665G>T	ENST00000265631.5	-	9	1010	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	SLC25A13_ENST00000542654.1_Silent_p.R184R|SLC25A13_ENST00000416240.2_Silent_p.R292R			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	292					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGAGCAATCCGTTCAATGTCT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	93			NA	NA	7		NA											NA				95818665		2203	4300	6503	SO:0001819	synonymous_variant			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864	10165	10165		Solute carriers, EF-hand domain containing	10983	protein-coding gene	gene with protein product	mitochondrial aspartate glutamate carrier 2	603859	solute carrier family 25, member 13 (citrin)	CTLN2	NA	10369257	Standard	NM_014251	NM_014251	NA	Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.874C>A	7.37:g.95818665G>T		NA	O14566|O14575|Q9NZW1|Q9UNI7	37	CCDS5645.1																																																																																			SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059395.2		-	ENST00000265631.5	Silent	SNP	7 : 95818665 - 95818665 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	231	39
SLC2A13	114134	broad.mit.edu	37	12	40499348	40499348	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:40499348G>A	ENST00000280871.4	-	1	313	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	88						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCCAGCGCGGAGAAGACGGC	0.721		NA								HNSCC(50;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	11	11			NA	NA	12		NA											NA				40499348		2159	4233	6392	SO:0001583	missense			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229	114134	114134		Solute carriers	15956	protein-coding gene	gene with protein product	H(+)-myo-inositol symporter	611036			NA	11500374	Standard		NM_052885	NA	Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.263C>T	12.37:g.40499348G>A	ENSP00000280871:p.Ser88Phe	NA	Q17S07	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491660	0.84962	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58940	0.3;0.3	3.88	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.235349	0.36932	N	0.002323	T	0.74152	0.3679	M	0.79805	2.47	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.99	T	0.77661	-0.2504	10	0.87932	D	0	-9.45	10.6446	0.45613	0.095:0.0:0.905:0.0	.	88;88	Q96QE2;E9PE47	MYCT_HUMAN;.	F	88	ENSP00000280871:S88F;ENSP00000370239:S88F	ENSP00000280871:S88F	S	-	2	0	SLC2A13	38785615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.537000	0.73847	1.710000	0.51325	0.462000	0.41574	TCC	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132849.2		-	ENST00000280871.4	Missense_Mutation	SNP	12 : 40499348 - 40499348 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	49	7
SLC3A2	6520	broad.mit.edu	37	11	62648627	62648627	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:62648627G>C	ENST00000377891.2	+	4	597	c.438G>C	c.(436-438)aaG>aaC	p.K146N	SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.K145N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.K176N	NM_001012662.2	NP_001012680.1	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	145					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTCTGGTGAAGATCAAGGTGG	0.657		NA									OREG0021031	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													26	30	29			NA	NA	11		NA											NA				62648627		2200	4297	6497	SO:0001583	missense				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003	6520	6520		Solute carriers	11026	protein-coding gene	gene with protein product	antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43, antigen defined by monoclonal antibody 4F2, heavy chain, 4F2 heavy chain, CD98 heavy chain, monoclonal antibody 44D7, 4F2 cell-surface antigen heavy chain, lymphocyte activation antigen 4F2 large subunit	158070	solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2	MDU1	NA	3036867	Standard	NM_001012661	NM_001012662	NA	Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377891.2:c.438G>C	11.37:g.62648627G>C	ENSP00000367123:p.Lys146Asn	1062	Q13543	37	CCDS31588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.105228|4.105228	0.77096|0.77096	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000544377;ENST00000338663;ENST00000539458;ENST00000422606|ENST00000538084	T;T;T;T;T;T;T|.	0.77098|.	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07|.	4.82|4.82	3.91|3.91	0.45181|0.45181	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61837|0.61837	0.2379|0.2379	L|L	0.58510|0.58510	1.815|1.815	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;1.0;1.0|.	T|T	0.59857|0.59857	-0.7375|-0.7375	10|5	0.36615|.	T|.	0.2|.	-25.3552|-25.3552	10.8823|10.8823	0.46946|0.46946	0.0915:0.0:0.9085:0.0|0.0915:0.0:0.9085:0.0	.|.	83;114;145;44;176|.	P08195-3;F5GZS6;P08195;P08195-2;P08195-4|.	.;.;4F2_HUMAN;.;.|.	N|T	176;146;145;146;83;114;44;44;44;44|116	ENSP00000367124:K176N;ENSP00000367123:K146N;ENSP00000367122:K145N;ENSP00000367121:K83N;ENSP00000444236:K114N;ENSP00000442135:K44N;ENSP00000340815:K44N|.	ENSP00000340815:K44N|.	K|R	+|+	3|2	2|0	SLC3A2|SLC3A2	62405203|62405203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	4.407000|4.407000	0.59754|0.59754	1.261000|1.261000	0.44149|0.44149	-0.258000|-0.258000	0.10820|0.10820	AAG|AGA	SLC3A2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396040.2		+	ENST00000377891.2	Missense_Mutation	SNP	11 : 62648627 - 62648627 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	56	8
SLC45A4	57210	broad.mit.edu	37	8	142222650	142222650	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:142222650G>C	ENST00000519067.1	-	7	2097	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M|SLC45A4_ENST00000024061.3_Missense_Mutation_p.I598M|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	649					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTGTGGTGGATGTACTGCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/ILE	1,4405	2.1+/-5.4	0,1,2202	43	47	46		1794	-5.7	0.5	8		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A4	NM_001080431.1	10	0,2,6501	CC,CG,GG	NA	0.0116,0.0227,0.0154	benign	598/799	142222650	2,13004	2203	4300	6503	SO:0001583	missense			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22					57210	57210		Solute carriers	29196	protein-coding gene	gene with protein product					NA		Standard	XM_050325	NM_001080431	NA	Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000519067.1:c.1794C>G	8.37:g.142222650G>C	ENSP00000429059:p.Ile598Met	NA	Q6ZRI2|Q9ULU3	37		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649682	0.29336	2.27E-4	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15718	2.42;2.41;2.41;2.4	4.96	-5.67	0.02444	.	0.431121	0.24978	N	0.034084	T	0.15955	0.0384	L	0.40543	1.245	0.37636	D	0.92185	P;P;P	0.52170	0.756;0.951;0.842	B;P;P	0.51516	0.352;0.672;0.554	T	0.09952	-1.0651	10	0.48119	T	0.1	-36.1766	9.3309	0.38021	0.2522:0.4998:0.248:0.0	.	649;598;598	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	598;649;591;598	ENSP00000429059:I598M;ENSP00000428137:I649M;ENSP00000400799:I591M;ENSP00000024061:I598M	ENSP00000024061:I598M	I	-	3	3	SLC45A4	142291832	0.040000	0.19996	0.457000	0.27056	0.275000	0.26752	-0.578000	0.05841	-0.748000	0.04753	-0.245000	0.11935	ATC	SLC45A4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000378932.2		-	ENST00000519067.1	Missense_Mutation	SNP	8 : 142222650 - 142222650 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	204	11
SLITRK3	22865	broad.mit.edu	37	3	164908435	164908435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:164908435C>T	ENST00000475390.1	-	2	627	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	62						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTACTGTCACAATGTATA	0.373		NA								HNSCC(40;0.11)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	3		NA											NA				164908435		2203	4300	6503	SO:0001583	missense			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871	22865	22865			23501	protein-coding gene	gene with protein product		609679			NA	10048485, 14557068	Standard	NM_014926	NM_014926	NA	Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.184G>A	3.37:g.164908435C>T	ENSP00000420091:p.Asp62Asn	NA	Q1RMY6	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325014	0.81580	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.83506	0.67;0.67;-1.73	6.11	6.11	0.99139	.	0.000000	0.40064	N	0.001194	D	0.87474	0.6186	L	0.29908	0.895	0.58432	D	0.999998	D	0.63880	0.993	D	0.74674	0.984	D	0.87135	0.2199	10	0.56958	D	0.05	-26.058	20.7342	0.99715	0.0:1.0:0.0:0.0	.	62	O94933	SLIK3_HUMAN	N	62	ENSP00000420091:D62N;ENSP00000241274:D62N;ENSP00000419611:D62N	ENSP00000241274:D62N	D	-	1	0	SLITRK3	166391129	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAC	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350126.1		-	ENST00000475390.1	Missense_Mutation	SNP	3 : 164908435 - 164908435 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	651	71
SMARCA1	6594	broad.mit.edu	37	X	128624058	128624058	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128624058C>T	ENST00000371122.4	-	15	2056	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	643	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACAATTGAATCGAGTCTCAGT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	96	102			NA	NA	X		NA											NA				128624058		2203	4300	6503	SO:0001583	missense			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038	6594	6594			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L	NA	1408766, 14609955	Standard	NM_003069	XM_005262461	NA	Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1927G>A	X.37:g.128624058C>T	ENSP00000360163:p.Asp643Asn	NA	Q5JV41|Q5JV42	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153859	0.94645	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.97253	0.9102	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.995;0.998;0.995	D	0.98047	1.0385	10	0.87932	D	0	-17.4212	18.1631	0.89716	0.0:1.0:0.0:0.0	.	622;643;631;643	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	N	631;631;643;622	ENSP00000360162:D631N;ENSP00000360164:D631N;ENSP00000360163:D643N;ENSP00000404275:D622N	ENSP00000360162:D631N	D	-	1	0	SMARCA1	128451739	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.776000	0.85560	2.313000	0.78055	0.523000	0.50628	GAT	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058206.1		-	ENST00000371122.4	Missense_Mutation	SNP	X : 128624058 - 128624058 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	95	27
SNX24	28966	broad.mit.edu	37	5	122272452	122272452	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:122272452G>C	ENST00000261369.4	+	2	269	c.84G>C	c.(82-84)atG>atC	p.M28I	SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	28	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		AAGTGCTAATGAATGGAAGAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	5		NA											NA				122272452		2203	4299	6502	SO:0001583	missense			AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652	28966	28966		Sorting nexins	21533	protein-coding gene	gene with protein product					NA	12461558	Standard	NM_014035	NM_014035	NA	Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.84G>C	5.37:g.122272452G>C	ENSP00000261369:p.Met28Ile	NA	Q6UY33	37	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082045	0.36758	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.69	5.69	0.88448	Phox homologous domain (5);	0.103032	0.85682	D	0.000000	T	0.25082	0.0609	N	0.11284	0.12	0.53688	D	0.99997	B;B	0.19073	0.033;0.005	B;B	0.17098	0.017;0.015	T	0.09122	-1.0689	10	0.19590	T	0.45	-12.9133	14.3626	0.66782	0.0706:0.0:0.9294:0.0	.	28;28	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	I	28;28;61;28	ENSP00000261369:M28I;ENSP00000424149:M28I;ENSP00000378837:M61I;ENSP00000422535:M28I	ENSP00000261369:M28I	M	+	3	0	SNX24	122300351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.323000	0.72891	2.840000	0.97914	0.655000	0.94253	ATG	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250885.2		+	ENST00000261369.4	Missense_Mutation	SNP	5 : 122272452 - 122272452 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	275	63
SPATA2L	124044	broad.mit.edu	37	16	89764126	89764126	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89764126C>T	ENST00000289805.5	-	3	959	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	297										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCAGCCCCTCCTCCAAGGCCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	27			NA	NA	16		NA											NA				89764126		2195	4294	6489	SO:0001819	synonymous_variant			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792	124044	124044			28393	protein-coding gene	gene with protein product			chromosome 16 open reading frame 76	C16orf76	NA	8619474	Standard	NM_152339	NM_152339	NA	Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.891G>A	16.37:g.89764126C>T		NA	D3DX85|Q8NHV3	37	CCDS10985.1																																																																																			SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269923.1		-	ENST00000289805.5	Silent	SNP	16 : 89764126 - 89764126 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	127	17
SPG7	6687	broad.mit.edu	37	16	89611106	89611106	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89611106G>A	ENST00000268704.2	+	10	1390	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	459					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	129	141			NA	NA	16		NA											NA				89611106		2198	4300	6498	SO:0001583	missense			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912	6687	6687		ATPases / AAA-type	11237	protein-coding gene	gene with protein product	paraplegin	602783	cell matrix adhesion regulator	CMAR	NA	9635427, 9634528	Standard	NM_003119	XM_006721264	NA	Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1375G>A	16.37:g.89611106G>A	ENSP00000268704:p.Asp459Asn	NA	O75756|Q2TB70|Q58F00|Q96IB0	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546089	0.96488	.	.	ENSG00000197912	ENST00000268704	D	0.95307	-3.67	5.0	5.0	0.66597	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97468	1.0039	10	0.87932	D	0	-0.9236	18.2856	0.90113	0.0:0.0:1.0:0.0	.	459	Q9UQ90	SPG7_HUMAN	N	459	ENSP00000268704:D459N	ENSP00000268704:D459N	D	+	1	0	SPG7	88138607	1.000000	0.71417	0.980000	0.43619	0.902000	0.53008	9.610000	0.98337	2.342000	0.79632	0.462000	0.41574	GAC	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269921.2		+	ENST00000268704.2	Missense_Mutation	SNP	16 : 89611106 - 89611106 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	593	85
SSH3	54961	broad.mit.edu	37	11	67076881	67076899	+	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	TTGAACATGGCCCGGGAGA	-	rs74859815	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	TTGAACATGGCCCGGGAGA	TTGAACATGGCCCGGGAGA	-	-	TTGAACATGGCCCGGGAGA	TTGAACATGGCCCGGGAGA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	ENST00000308127.4	+	11	1253_1271	c.1075_1093delTTGAACATGGCCCGGGAGA	c.(1075-1095)ttgaacatggcccgggagattfs	p.LNMAREI359fs	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	359	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCACATCTTGAACATGGCCCGGGAGATTGACAACTT	0.635		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830	54961	54961		Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots	30581	protein-coding gene	gene with protein product		606780	slingshot homolog 3 (Drosophila)		NA	11832213	Standard	NM_018276	NM_017857	NA	Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1075_1093delTTGAACATGGCCCGGGAGA	11.37:g.67076881_67076899delTTGAACATGGCCCGGGAGA	ENSP00000312081:p.Leu359fs	NA	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	37	CCDS8157.1																																																																																			SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393167.1		+	ENST00000308127.4	Frame_Shift_Del	DEL	11 : 67076881 - 67076899 - PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	415	24
ST6GALNAC1	55808	broad.mit.edu	37	17	74625682	74625682	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:74625682T>C	ENST00000156626.7	-	2	442	c.243A>G	c.(241-243)ccA>ccG	p.P81P	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	81					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CATTGTTCTCTGGCACTGGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	148	155			NA	NA	17		NA											NA				74625682		2203	4300	6503	SO:0001819	synonymous_variant			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526	55808	55808		Sialyltransferases	23614	protein-coding gene	gene with protein product		610138	sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A	SIAT7A	NA		Standard	NM_018414	NM_001289107	NA	Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.243A>G	17.37:g.74625682T>C		NA	Q6UW90|Q9NSC6	37	CCDS11748.1																																																																																			ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450974.1		-	ENST00000156626.7	Silent	SNP	17 : 74625682 - 74625682 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	706	17
STK4	6789	broad.mit.edu	37	20	43703783	43703783	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703783T>A	ENST00000372806.3	+	11	1525	c.1430T>A	c.(1429-1431)aTa>aAa	p.I477K	STK4_ENST00000499879.2_Missense_Mutation_p.I422K|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	477	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTGGATGCCATAGAGGCTAAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(187;1039 2137 11798 21916 33213)							NA				0													43	42	43			NA	NA	20		NA											NA				43703783		2203	4300	6503	SO:0001583	missense				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109	6789	6789			11408	protein-coding gene	gene with protein product	mammalian sterile 20-like 1, yeast Ste20-like, kinase responsive to stress 2	604965			NA	8816758, 9545236, 11517310	Standard	NM_006282	NM_006282	NA	Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1430T>A	20.37:g.43703783T>A	ENSP00000361892:p.Ile477Lys	NA	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448883	0.84101	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.74947	-0.89;0.09	5.99	3.72	0.42706	SARAH domain (1);SARAH (1);	0.102004	0.64402	D	0.000012	D	0.82751	0.5105	M	0.75777	2.31	0.80722	D	1	D;D	0.60575	0.986;0.988	D;D	0.69654	0.94;0.965	T	0.83048	-0.0154	10	0.87932	D	0	.	8.4572	0.32906	0.0:0.0674:0.1329:0.7997	.	422;477	F5H5B4;Q13043	.;STK4_HUMAN	K	477;422	ENSP00000361892:I477K;ENSP00000443514:I422K	ENSP00000361892:I477K	I	+	2	0	STK4	43137197	1.000000	0.71417	0.938000	0.37757	0.961000	0.63080	5.914000	0.69964	1.061000	0.40601	0.533000	0.62120	ATA	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080401.4		+	ENST00000372806.3	Missense_Mutation	SNP	20 : 43703783 - 43703783 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	246	12
STK4	6789	broad.mit.edu	37	20	43703792	43703792	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703792A>T	ENST00000372806.3	+	11	1534	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	STK4_ENST00000499879.2_Missense_Mutation_p.K425M|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	480	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ATAGAGGCTAAGAAGAGACGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(187;1039 2137 11798 21916 33213)							NA				0													41	41	41			NA	NA	20		NA											NA				43703792		2203	4300	6503	SO:0001583	missense				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109	6789	6789			11408	protein-coding gene	gene with protein product	mammalian sterile 20-like 1, yeast Ste20-like, kinase responsive to stress 2	604965			NA	8816758, 9545236, 11517310	Standard	NM_006282	NM_006282	NA	Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1439A>T	20.37:g.43703792A>T	ENSP00000361892:p.Lys480Met	NA	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900543	0.92035	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.79454	-1.27;-0.4	5.99	5.99	0.97316	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90456	0.4442	10	0.87932	D	0	.	16.4892	0.84195	1.0:0.0:0.0:0.0	.	425;480	F5H5B4;Q13043	.;STK4_HUMAN	M	480;425	ENSP00000361892:K480M;ENSP00000443514:K425M	ENSP00000361892:K480M	K	+	2	0	STK4	43137206	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.893000	0.92498	2.296000	0.77279	0.533000	0.62120	AAG	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080401.4		+	ENST00000372806.3	Missense_Mutation	SNP	20 : 43703792 - 43703792 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	244	11
TAF1L	138474	broad.mit.edu	37	9	32634851	32634851	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:32634851A>G	ENST00000242310.4	-	1	816	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	243					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACACTTGGCAACAGCTTGGTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	124	128			NA	NA	9		NA											NA				32634851		2203	4300	6503	SO:0001819	synonymous_variant			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728	138474	138474			18056	protein-coding gene	gene with protein product		607798	TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa		NA	12217962	Standard		NM_153809	NA	Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.727T>C	9.37:g.32634851A>G		NA	Q0VG57	37	CCDS35003.1																																																																																			TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052012.2		-	ENST00000242310.4	Silent	SNP	9 : 32634851 - 32634851 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	640	52
TAMM41	132001	broad.mit.edu	37	3	11851103	11851103	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:11851103G>C	ENST00000444133.2	-	6	904	c.762C>G	c.(760-762)acC>acG	p.T254T	TAMM41_ENST00000273037.5_Silent_p.T254T|TAMM41_ENST00000455809.1_Silent_p.T254T			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	254					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					NA						GTTGCTGTAAGGTTTTGGGCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	143	145			NA	NA	3		NA											NA				11851103		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559	132001	132001			25187	protein-coding gene	gene with protein product		614948	chromosome 3 open reading frame 31	C3orf31	NA	19237595	Standard	NM_138807	XM_005264873	NA	Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.762C>G	3.37:g.11851103G>C		NA		37																																																																																				TAMM41-008	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000339258.2		-	ENST00000444133.2	Silent	SNP	3 : 11851103 - 11851103 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	584	48
TAOK1	57551	broad.mit.edu	37	17	27857472	27857472	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:27857472C>T	ENST00000261716.3	+	18	2715	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TAOK1_ENST00000536202.1_Silent_p.I584I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	732					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCTGCAAAATCCAAACCAGAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	64			NA	NA	17		NA											NA				27857472		2203	4300	6503	SO:0001819	synonymous_variant			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551	57551	57551			29259	protein-coding gene	gene with protein product		610266			NA	10718198, 14517247	Standard	NM_020791	NM_020791	NA	Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2196C>T	17.37:g.27857472C>T		NA	A2RUT8|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	37	CCDS32601.1																																																																																			TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447790.1		+	ENST00000261716.3	Silent	SNP	17 : 27857472 - 27857472 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	249	30
TBX18	9096	broad.mit.edu	37	6	85457659	85457659	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:85457659G>A	ENST00000369663.5	-	5	1255	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	306					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATAGGCAGTGACGGTTGTGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	95	101			NA	NA	6		NA											NA				85457659		2203	4300	6503	SO:0001819	synonymous_variant			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837	9096	9096		T-boxes	11595	protein-coding gene	gene with protein product		604613			NA	9888994, 16688725, 23242162	Standard	NM_001080508	NM_001080508	NA	Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.918C>T	6.37:g.85457659G>A		NA	A2RU13|Q7Z6U4|Q9UJI6	37	CCDS34495.1																																																																																			TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041378.2		-	ENST00000369663.5	Silent	SNP	6 : 85457659 - 85457659 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	258	34
TDG	6996	broad.mit.edu	37	12	104373759	104373759	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:104373759G>A	ENST00000392872.3	+	3	551	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	106					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGTAAAAAGAAAAGTAGAC	0.353		NA						Base excision repair (BER), DNA glycosylases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	65	66			NA	NA	12		NA											NA				104373759		2203	4300	6503	SO:0001583	missense			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	6996	6996	3.2.2.29		11700	protein-coding gene	gene with protein product	G/T mismatch-specific thymine DNA glycosylase	601423			NA	8662714, 9299239	Standard		NM_003211	NA	Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.317G>A	12.37:g.104373759G>A	ENSP00000376611:p.Arg106Lys	NA	Q8IUZ6|Q8IZM3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187914	0.78789	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	T;T;T	0.46451	2.06;2.06;0.87	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.58669	1.825	0.80722	D	1	D;P;P	0.89917	1.0;0.518;0.518	D;B;B	0.83275	0.996;0.443;0.443	T	0.53114	-0.8484	10	0.14252	T	0.57	-10.642	18.4652	0.90752	0.0:0.0:1.0:0.0	.	106;106;106	B4DSN7;B2R848;Q13569	.;.;TDG_HUMAN	K	106;81;102;106	ENSP00000376611:R106K;ENSP00000266775:R102K;ENSP00000439825:R106K	ENSP00000266775:R102K	R	+	2	0	TDG	102897889	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	9.042000	0.93793	2.348000	0.79779	0.557000	0.71058	AGA	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399673.2		+	ENST00000392872.3	Missense_Mutation	SNP	12 : 104373759 - 104373759 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	372	36
TDRD7	23424	broad.mit.edu	37	9	100194382	100194382	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100194382C>A	ENST00000355295.4	+	4	720	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	TDRD7_ENST00000422139.2_Missense_Mutation_p.P68Q	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AATCCAGCACCGTTAAGAGAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	148	146			NA	NA	9		NA											NA				100194382		2203	4300	6503	SO:0001583	missense			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116	23424	23424		Tudor domain containing	30831	protein-coding gene	gene with protein product		611258			NA	21436445	Standard	NM_014290	NM_014290	NA	Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.425C>A	9.37:g.100194382C>A	ENSP00000347444:p.Pro142Gln	NA	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	3.463	-0.109516	0.06924	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.11063	2.84;2.81	5.13	1.3	0.21679	.	1.380980	0.04906	N	0.452303	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	0.999999	B	0.28971	0.229	B	0.23150	0.044	T	0.38672	-0.9650	10	0.45353	T	0.12	-0.8069	7.6434	0.28307	0.0:0.3591:0.0:0.6409	.	142	Q8NHU6	TDRD7_HUMAN	Q	142;68	ENSP00000347444:P142Q;ENSP00000413608:P68Q	ENSP00000347444:P142Q	P	+	2	0	TDRD7	99234203	0.387000	0.25188	0.096000	0.21009	0.004000	0.04260	0.576000	0.23744	0.150000	0.19136	-0.438000	0.05819	CCG	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053322.1		+	ENST00000355295.4	Missense_Mutation	SNP	9 : 100194382 - 100194382 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	653	39
TDRD7	23424	broad.mit.edu	37	9	100194383	100194383	+	Silent	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100194383G>T	ENST00000355295.4	+	4	721	c.426G>T	c.(424-426)ccG>ccT	p.P142P	TDRD7_ENST00000422139.2_Silent_p.P68P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCCAGCACCGTTAAGAGACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	149	147			NA	NA	9		NA											NA				100194383		2203	4300	6503	SO:0001819	synonymous_variant			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116	23424	23424		Tudor domain containing	30831	protein-coding gene	gene with protein product		611258			NA	21436445	Standard	NM_014290	NM_014290	NA	Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.426G>T	9.37:g.100194383G>T		NA	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	37	CCDS6725.1																																																																																			TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053322.1		+	ENST00000355295.4	Silent	SNP	9 : 100194383 - 100194383 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	658	39
TIMP1	7076	broad.mit.edu	37	X	47446054	47446054	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:47446054G>C	ENST00000218388.4	+	6	758	c.588G>C	c.(586-588)ctG>ctC	p.L196L	TIMP1_ENST00000377017.1_Silent_p.L132L|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	196					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						AGCCAGGGCTGTGCACCTGGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	57	63			NA	NA	X		NA											NA				47446054		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265	7076	7076			11820	protein-coding gene	gene with protein product		305370	tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)	TIMP, CLGI	NA		Standard	NM_003254	XM_005272645	NA	Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.588G>C	X.37:g.47446054G>C		NA	Q14252|Q9UCU1	37	CCDS14281.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855188	0.17106	.	.	ENSG00000102265	ENST00000445623	.	.	.	5.23	2.08	0.27032	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45026	-0.9289	4	.	.	.	.	6.0618	0.19842	0.1181:0.2872:0.5947:0.0	.	.	.	.	S	154	.	.	C	+	2	0	TIMP1	47330998	0.949000	0.32298	0.940000	0.37924	0.878000	0.50629	0.087000	0.14958	0.928000	0.37168	0.523000	0.50628	TGT	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056423.1		+	ENST00000218388.4	Silent	SNP	X : 47446054 - 47446054 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	201	12
TMEM91	641649	broad.mit.edu	37	19	41884321	41884321	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:41884321G>C	ENST00000539627.1	+	2	428	c.107G>C	c.(106-108)aGa>aCa	p.R36T	BCKDHA_ENST00000595085.1_Missense_Mutation_p.R36T|TMEM91_ENST00000544232.1_Missense_Mutation_p.R36T|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R36T|TMEM91_ENST00000392002.2_Missense_Mutation_p.R36T|TMEM91_ENST00000413014.2_Missense_Mutation_p.R36T|TMEM91_ENST00000604123.1_Missense_Mutation_p.R93T|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000542945.1_Missense_Mutation_p.R36T|TMEM91_ENST00000436170.2_Missense_Mutation_p.R36T|TMEM91_ENST00000356385.4_Missense_Mutation_p.R36T|TMEM91_ENST00000447302.2_Missense_Mutation_p.R36T					transmembrane protein 91	NA										lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TCCCCCTTAAGAGAGATAGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	19		NA											NA				41884321		1886	4128	6014	SO:0001583	missense			AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16					641649	641649			32393	protein-coding gene	gene with protein product	interferon induced transmembrane protein domain containing 6				NA	12477932	Standard		NM_001098824	NA	Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000539627.1:c.107G>C	19.37:g.41884321G>C	ENSP00000441900:p.Arg36Thr	NA		37		.	.	.	.	.	.	.	.	.	.	G	7.089	0.571696	0.13623	.	.	ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000255730	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385;ENST00000546050;ENST00000540732	D;D	0.97870	-3.71;-4.58	4.22	0.558	0.17266	.	1.027160	0.07754	N	0.948972	D	0.93207	0.7836	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.012;0.0;0.001;0.012	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.002;0.003;0.001;0.001;0.004	D	0.87025	0.2131	10	0.62326	D	0.03	.	5.6687	0.17711	0.1153:0.418:0.4667:0.0	.	36;36;36;36;36;36;36	C9J9D1;C9JZ62;C9K046;Q6P434;F5H5P2;Q6ZNR0;F5GWC9	.;.;.;.;.;TMM91_HUMAN;.	T	36;36;36;36;36;36;36;36;36;36;22;36	ENSP00000375859:R36T;ENSP00000443246:R36T	ENSP00000443246:R36T	R	+	2	0	CTC-435M10.3;TMEM91	46576161	0.011000	0.17503	0.077000	0.20336	0.192000	0.23643	0.330000	0.19715	0.517000	0.28361	0.561000	0.74099	AGA	TMEM91-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398300.1		+	ENST00000539627.1	Missense_Mutation	SNP	19 : 41884321 - 41884321 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	706	39
TMOD1	7111	broad.mit.edu	37	9	100328234	100328234	+	Silent	SNP	G	G	A	rs142987399		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100328234G>A	ENST00000259365.4	+	7	936	c.723G>A	c.(721-723)gcG>gcA	p.A241A	TMOD1_ENST00000375175.1_Silent_p.A114A|TMOD1_ENST00000395211.2_Silent_p.A241A	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	NA					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCCGTGGCGTATGTATGTA	0.493		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	0.0011	SNP								NA				0								G	,	3,4403	6.2+/-15.9	0,3,2200	187	192	191		723,723	-10.1	0	9	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMOD1	NM_001166116.1,NM_003275.3	,	0,4,6499	AA,AG,GG	NA	0.0116,0.0681,0.0308	,	241/360,241/360	100328234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842	7111	7111			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD	NA	1370827, 8661028	Standard	NM_003275	NM_003275	NA	Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.723G>A	9.37:g.100328234G>A		NA	B2RB77|Q9BUF1	37	CCDS6726.1																																																																																			TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053320.2		+	ENST00000259365.4	Silent	SNP	9 : 100328234 - 100328234 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	389	63
TNXB	7148	broad.mit.edu	37	6	32020759	32020759	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:32020759C>G	ENST00000375244.3	-	26	9004	c.8803G>C	c.(8803-8805)Gaa>Caa	p.E2935Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q			P22105	TENX_HUMAN	tenascin XB	2980	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGGGAGTTTCTTCCTCTGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	39	36			NA	NA	6		NA											NA				32020759		1225	2527	3752	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8803G>C	6.37:g.32020759C>G	ENSP00000364393:p.Glu2935Gln	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	c	15.55	2.867263	0.51588	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58652	0.55;0.32	4.61	3.74	0.42951	.	0.168845	0.27896	N	0.017419	T	0.53706	0.1813	L	0.59967	1.855	0.23089	N	0.99831	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.22706	T	0.39	.	9.9562	0.41668	0.0:0.9014:0.0:0.0986	.	2933	P22105-3	.	Q	2935;2933	ENSP00000364393:E2935Q;ENSP00000364396:E2933Q	ENSP00000364393:E2935Q	E	-	1	0	TNXB	32128737	0.007000	0.16637	0.989000	0.46669	0.628000	0.37860	1.759000	0.38420	0.916000	0.36871	0.591000	0.81541	GAA	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Missense_Mutation	SNP	6 : 32020759 - 32020759 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	297	57
TRIML1	339976	broad.mit.edu	37	4	189065010	189065010	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:189065010G>C	ENST00000332517.3	+	4	894	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	252					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAGCCCTGGAAAGGTAGGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(31;213 1036 16579 23968 32372)							NA				0													226	224	225			NA	NA	4		NA											NA				189065010		2203	4300	6503	SO:0001583	missense			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108	339976	339976		RING-type (C3HC4) zinc fingers	26698	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178556	NM_178556	NA	Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.754G>C	4.37:g.189065010G>C	ENSP00000327738:p.Glu252Gln	NA	Q96BE5	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.797499	0.31777	.	.	ENSG00000184108	ENST00000332517	T	0.04862	3.54	5.82	3.75	0.43078	.	0.347035	0.25112	N	0.033041	T	0.05686	0.0149	L	0.55017	1.72	0.26449	N	0.975649	P	0.35433	0.501	B	0.30495	0.116	T	0.28870	-1.0030	10	0.17832	T	0.49	-15.7788	6.591	0.22646	0.2351:0.0:0.7649:0.0	.	252	Q8N9V2	TRIML_HUMAN	Q	252	ENSP00000327738:E252Q	ENSP00000327738:E252Q	E	+	1	0	TRIML1	189302004	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.020000	0.30027	1.614000	0.50241	0.639000	0.83563	GAA	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359813.1		+	ENST00000332517.3	Missense_Mutation	SNP	4 : 189065010 - 189065010 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1047	176
TRMT61A	115708	broad.mit.edu	37	14	103996579	103996579	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:103996579C>T	ENST00000389749.4	+	2	371	c.264C>T	c.(262-264)taC>taT	p.Y88Y		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	88						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						AGATCCTCTACTCCACAGACA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	95	92			NA	NA	14		NA											NA				103996579		2186	4280	6466	SO:0001819	synonymous_variant			AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166	115708	115708			23790	protein-coding gene	gene with protein product			chromosome 14 open reading frame 172	C14orf172	NA	16043508	Standard	NM_152307	NM_152307	NA	Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.264C>T	14.37:g.103996579C>T		NA	A6NN78|Q8N7Q9	37	CCDS41994.1																																																																																			TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414988.1		+	ENST00000389749.4	Silent	SNP	14 : 103996579 - 103996579 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	674	119
TSNARE1	203062	broad.mit.edu	37	8	143427196	143427196	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:143427196T>G	ENST00000524325.1	-	3	321	c.146A>C	c.(145-147)gAg>gCg	p.E49A	TSNARE1_ENST00000307180.3_Missense_Mutation_p.E49A|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	49					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCTTGCTCTCTGGCGACGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	100	108			NA	NA	8		NA											NA				143427196		2203	4300	6503	SO:0001583	missense					8q24.3	2005-08-18					203062	203062			26437	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_145003	XM_005250828	NA	Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000524325.1:c.146A>C	8.37:g.143427196T>G	ENSP00000428763:p.Glu49Ala	NA	Q14D03	37		.	.	.	.	.	.	.	.	.	.	T	11.70	1.717466	0.30413	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000520462;ENST00000518720	T;T;T;T;T	0.32988	2.35;2.34;2.35;1.48;1.43	2.62	2.62	0.31277	.	0.250633	0.20123	U	0.098772	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46784	0.884;0.884;0.884	B;B;B	0.40659	0.336;0.336;0.336	T	0.10382	-1.0632	10	0.87932	D	0	-5.9914	7.1523	0.25618	0.0:0.0:0.0:1.0	.	49;49;49	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	A	49;49;49;49;65	ENSP00000428763:E49A;ENSP00000303437:E49A;ENSP00000427770:E49A;ENSP00000429626:E49A;ENSP00000430789:E65A	ENSP00000303437:E49A	E	-	2	0	TSNARE1	143425103	0.539000	0.26402	0.131000	0.22000	0.847000	0.48162	0.972000	0.29409	1.450000	0.47717	0.528000	0.53228	GAG	TSNARE1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000380678.1		-	ENST00000524325.1	Missense_Mutation	SNP	8 : 143427196 - 143427196 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	329	22
UBE2Q1	55585	broad.mit.edu	37	1	154525225	154525225	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154525225C>G	ENST00000292211.4	-	6	880	c.801G>C	c.(799-801)caG>caC	p.Q267H	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	267							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTGAAACTCTGTGATCGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	1		NA											NA				154525225		2203	4300	6503	SO:0001583	missense			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714	55585	55585		Ubiquitin-conjugating enzymes E2	15698	protein-coding gene	gene with protein product			ubiquitin-conjugating enzyme E2Q (putative)	UBE2Q	NA		Standard	NM_017582	NM_017582	NA	Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.801G>C	1.37:g.154525225C>G	ENSP00000292211:p.Gln267His	NA	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493961	0.44352	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.18	4.19	0.49359	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.62723	1.935	0.42318	D	0.992249	B	0.22851	0.076	B	0.21546	0.035	T	0.55566	-0.8121	9	0.66056	D	0.02	-10.7848	9.0263	0.36232	0.0:0.8603:0.0:0.1397	.	267	Q7Z7E8	UB2Q1_HUMAN	H	267	.	ENSP00000292211:Q267H	Q	-	3	2	UBE2Q1	152791849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.740000	0.47418	2.701000	0.92244	0.563000	0.77884	CAG	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090704.1		-	ENST00000292211.4	Missense_Mutation	SNP	1 : 154525225 - 154525225 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	546	24
VPS13B	157680	broad.mit.edu	37	8	100155279	100155279	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:100155279C>G	ENST00000358544.2	+	13	1840	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V	VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V|VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000395996.1_Missense_Mutation_p.L577V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	577					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCAAAAGCCTTGTTATAGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													122	119	120			NA	NA	8		NA											NA				100155279		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1729C>G	8.37:g.100155279C>G	ENSP00000351346:p.Leu577Val	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	9.575	1.122042	0.20877	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.76709	-1.04;-0.33;-0.33;-0.03	5.43	5.43	0.79202	.	0.097761	0.44285	D	0.000464	T	0.65729	0.2719	L	0.27053	0.805	0.44085	D	0.996848	P;P;P;P;P	0.40211	0.565;0.707;0.583;0.565;0.565	B;B;B;B;B	0.37888	0.26;0.26;0.133;0.26;0.26	T	0.64149	-0.6475	10	0.20046	T	0.44	.	14.9991	0.71459	0.1513:0.8487:0.0:0.0	.	577;577;577;577;577	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	V	577	ENSP00000347281:L577V;ENSP00000349685:L577V;ENSP00000351346:L577V;ENSP00000379318:L577V	ENSP00000347281:L577V	L	+	1	0	VPS13B	100224455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.304000	0.43655	2.531000	0.85337	0.591000	0.81541	CTT	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100155279 - 100155279 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	523	152
WDR45	11152	broad.mit.edu	37	X	48932556	48932556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932556C>T	ENST00000473974.1	-	9	879	c.741G>A	c.(739-741)tgG>tgA	p.W247*	WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000376372.3_Missense_Mutation_p.G330E|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E|AF196779.12_ENST00000376358.3_Intron			Q9Y484	WIPI4_HUMAN	WD repeat domain 45	247					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTGGAAGGTCCCATCTACGCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	65	65			NA	NA	X		NA											NA				48932556		2203	4300	6503	SO:0001587	stop_gained			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998	11152	11152		WD repeat domain containing	28912	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 5	300526	WD repeat domain, X-linked 1	WDRX1	NA	12477932	Standard	NM_007075	NM_007075	NA	Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000473974.1:c.741G>A	X.37:g.48932556C>T	ENSP00000417211:p.Trp247*	NA	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.518097|4.518097	0.85495|0.85495	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000486337;ENST00000367375;ENST00000473974;ENST00000475977	D;D;D;D;D;D|.	0.86627|.	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77445|.	0.4131|.	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.999;0.994|.	T|.	0.79050|.	-0.1962|.	10|.	0.87932|.	D|.	0|.	-13.1114|-13.1114	16.6575|16.6575	0.85232|0.85232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341;295;331;330|.	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;WIPI4_HUMAN|.	E|X	330;341;331;295;331;316|50;256;247;109	ENSP00000365551:G330E;ENSP00000365543:G341E;ENSP00000348848:G331E;ENSP00000419897:G295E;ENSP00000365546:G331E;ENSP00000379913:G316E|.	ENSP00000365543:G341E|.	G|W	-|-	2|3	0|0	WDR45|WDR45	48819500|48819500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.234000|7.234000	0.78134|0.78134	2.392000|2.392000	0.81423|0.81423	0.600000|0.600000	0.82982|0.82982	GGG|TGG	WDR45-020	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000357075.1		-	ENST00000473974.1	Nonsense_Mutation	SNP	X : 48932556 - 48932556 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	291	20
WDR45	11152	broad.mit.edu	37	X	48932560	48932560	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932560C>G	ENST00000356463.3	-	12	1426	c.988G>C	c.(988-990)Gat>Cat	p.D330H	WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000376372.3_Missense_Mutation_p.D329H|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H|AF196779.12_ENST00000376358.3_Intron	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	329					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AAGGTCCCATCTACGCAGATG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	X		NA											NA				48932560		2203	4300	6503	SO:0001583	missense			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998	11152	11152		WD repeat domain containing	28912	protein-coding gene	gene with protein product	neurodegeneration with brain iron accumulation 5	300526	WD repeat domain, X-linked 1	WDRX1	NA	12477932	Standard	NM_007075	NM_007075	NA	Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000356463.3:c.988G>C	X.37:g.48932560C>G	ENSP00000348848:p.Asp330His	NA	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	37	CCDS14318.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.82|17.82|17.82	3.483550|3.483550|3.483550	0.63962|0.63962|0.63962	.|.|.	.|.|.	ENSG00000196998|ENSG00000196998|ENSG00000196998	ENST00000486337|ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000367375;ENST00000473974;ENST00000475977	.|D;D;D;D;D;D|T;T	.|0.81659|0.79033	.|-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|-1.23;-0.07	4.98|4.98|4.98	4.12|4.12|4.12	0.48240|0.48240|0.48240	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|T	.|0.76026|0.76026	.|0.3930|0.3930	M|M|M	0.78637|0.78637|0.78637	2.42|2.42|2.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|B	.|0.89917|0.02656	.|1.0;1.0;1.0;1.0|0.0	.|D;D;D;D|B	.|0.87578|0.01281	.|0.998;0.992;0.996;0.985|0.0	.|T|T	.|0.71368|0.71368	.|-0.4614|-0.4614	.|10|8	.|0.87932|.	.|D|.	.|0|.	.|-10.0566|-10.0566	11.9902|11.9902|11.9902	0.53171|0.53171|0.53171	0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09	.|.|.	.|340;294;330;329|246	.|Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|C9J471	.|.;.;.;WIPI4_HUMAN|.	.|H|T	-1|329;340;330;294;330;315|255;246;108	.|ENSP00000365551:D329H;ENSP00000365543:D340H;ENSP00000348848:D330H;ENSP00000419897:D294H;ENSP00000365546:D330H;ENSP00000379913:D315H|ENSP00000417211:R246T;ENSP00000417754:R108T	.|ENSP00000365543:D340H|.	.|D|R	-|-|-	.|1|2	.|0|0	WDR45|WDR45|WDR45	48819504|48819504|48819504	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.234000|7.234000|7.234000	0.78134|0.78134|0.78134	1.169000|1.169000|1.169000	0.42739|0.42739|0.42739	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	.|GAT|AGA	WDR45-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083427.2		-	ENST00000356463.3	Missense_Mutation	SNP	X : 48932560 - 48932560 G PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	278	18
WDR83	84292	broad.mit.edu	37	19	12786384	12786384	+	Silent	SNP	G	G	A	rs142130654	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:12786384G>A	ENST00000418543.3	+	11	1195	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WDR83_ENST00000242796.4_Silent_p.S282S	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	282					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TGGTGCAGTCGCTGGCCTACC	0.657		NA									OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	2	9e-04	NA	NA	2184	0.0017	0.9991	,	,	NA	4e-04	0.0013	NA	NA	0.0013	0.8173	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0								G	,	0,4406		0,0,2203	52	47	49		846,846	-11.8	0.5	19	dbSNP_134	49	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	WDR83	NM_001099737.2,NM_032332.3	,	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	,	282/316,282/316	12786384	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154	84292	84292		WD repeat domain containing	32672	protein-coding gene	gene with protein product	MAPK organizer 1				NA	15118098, 16407229	Standard	NM_032332	NM_032332	NA	Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.846G>A	19.37:g.12786384G>A		682	B2RAF1|Q53FT6	37	CCDS12275.1																																																																																			WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403648.1		+	ENST00000418543.3	Silent	SNP	19 : 12786384 - 12786384 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	298	40
ZHX1	11244	broad.mit.edu	37	8	124267697	124267697	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124267697C>T	ENST00000522655.1	-	3	1030	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.E164K|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	164					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGCTTGCTCTGCATTCTCC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	105	105			NA	NA	8		NA											NA				124267697		2201	4300	6501	SO:0001583	missense			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156	11244	11244		Zinc fingers, C2H2-type, Homeoboxes / ZF class	12871	protein-coding gene	gene with protein product		604764	zinc-fingers and homeoboxes 1		NA	10441475	Standard		NM_001017926	NA	Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.490G>A	8.37:g.124267697C>T	ENSP00000428821:p.Glu164Lys	NA	Q8IWD8	37	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492037	0.26774	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.55234	0.53;0.53;0.53	5.51	5.51	0.81932	.	0.252609	0.31989	N	0.006746	T	0.51244	0.1663	.	.	.	0.46499	D	0.99907	B	0.23058	0.079	B	0.21917	0.037	T	0.49716	-0.8910	9	0.66056	D	0.02	-15.5127	19.4207	0.94720	0.0:1.0:0.0:0.0	.	164	Q9UKY1	ZHX1_HUMAN	K	164	ENSP00000297857:E164K;ENSP00000378938:E164K;ENSP00000428821:E164K	ENSP00000297857:E164K	E	-	1	0	ZHX1	124336878	0.999000	0.42202	0.940000	0.37924	0.155000	0.21991	5.457000	0.66672	2.581000	0.87130	0.555000	0.69702	GAG	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381759.1		-	ENST00000522655.1	Missense_Mutation	SNP	8 : 124267697 - 124267697 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	636	29
ZIC5	85416	broad.mit.edu	37	13	100617947	100617947	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:100617947T>A	ENST00000267294.4	-	2	1909	c.1676A>T	c.(1675-1677)gAc>gTc	p.D559V		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	559					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGGATTTGTCACAGCCTCG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	177	186			NA	NA	13		NA											NA				100617947		2203	4300	6503	SO:0001583	missense			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800	85416	85416		Zinc fingers, C2H2-type	20322	protein-coding gene	gene with protein product			Zic family member 5 (odd-paired homolog, Drosophila)		NA		Standard	NM_033132	NM_033132	NA	Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1676A>T	13.37:g.100617947T>A	ENSP00000267294:p.Asp559Val	NA	Q5VYB0	37	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304563	0.81136	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.54279	0.58	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71350	0.3329	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74487	-0.3649	9	0.87932	D	0	.	15.8149	0.78592	0.0:0.0:0.0:1.0	.	559	Q96T25	ZIC5_HUMAN	V	197;559	ENSP00000267294:D559V	ENSP00000267294:D559V	D	-	2	0	ZIC5	99415948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.198000	0.70561	0.533000	0.62120	GAC	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045623.3		-	ENST00000267294.4	Missense_Mutation	SNP	13 : 100617947 - 100617947 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	411	143
ZNF318	24149	broad.mit.edu	37	6	43305986	43305986	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:43305986C>A	ENST00000361428.2	-	10	5827	c.5750G>T	c.(5749-5751)aGt>aTt	p.S1917I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1917					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTCCTCACTAACAACTGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	6		NA											NA				43305986		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5750G>T	6.37:g.43305986C>A	ENSP00000354964:p.Ser1917Ile	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932489	0.18131	.	.	ENSG00000171467	ENST00000361428	T	0.12984	2.63	4.96	0.819	0.18785	.	0.554792	0.17839	N	0.160277	T	0.02119	0.0066	N	0.24115	0.695	0.19775	N	0.999955	P	0.36837	0.571	B	0.34385	0.181	T	0.39210	-0.9625	10	0.56958	D	0.05	-0.9562	1.1873	0.01858	0.1517:0.4198:0.1482:0.2803	.	1917	Q5VUA4	ZN318_HUMAN	I	1917	ENSP00000354964:S1917I	ENSP00000354964:S1917I	S	-	2	0	ZNF318	43413964	0.000000	0.05858	0.826000	0.32828	0.342000	0.28953	-0.130000	0.10498	0.257000	0.21650	0.644000	0.83932	AGT	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43305986 - 43305986 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	676	82
ZNF514	84874	broad.mit.edu	37	2	95815575	95815575	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:95815575G>T	ENST00000295208.2	-	5	1117	c.655C>A	c.(655-657)Ctt>Att	p.L219I	ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGGCGCCTAAGTTCTGACTGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	132	129			NA	NA	2		NA											NA				95815575		2203	4300	6503	SO:0001583	missense			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026	84874	84874		Zinc fingers, C2H2-type, -	25894	protein-coding gene	gene with protein product					NA		Standard	NM_032788	NM_032788	NA	Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.655C>A	2.37:g.95815575G>T	ENSP00000295208:p.Leu219Ile	NA	Q5JPJ3	37	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829490	0.50845	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000542127	T;T	0.53857	0.6;0.6	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74176	0.3682	M	0.89478	3.035	0.23577	N	0.997371	B;D	0.53462	0.227;0.96	P;D	0.64506	0.493;0.926	T	0.64360	-0.6426	9	0.87932	D	0	.	12.6058	0.56523	0.0:0.0:1.0:0.0	.	219;38	Q96K75;Q658L7	ZN514_HUMAN;.	I	219;219;4	ENSP00000295208:L219I;ENSP00000405509:L219I	ENSP00000295208:L219I	L	-	1	0	ZNF514	95179302	0.924000	0.31332	0.977000	0.42913	0.771000	0.43674	2.436000	0.44819	2.065000	0.61736	0.655000	0.94253	CTT	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252769.1		-	ENST00000295208.2	Missense_Mutation	SNP	2 : 95815575 - 95815575 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	783	26
ZNF556	80032	broad.mit.edu	37	19	2877458	2877458	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:2877458G>A	ENST00000586426.1	+	4	586	c.499G>A	c.(499-501)Gct>Act	p.A167T	ZNF556_ENST00000307635.2_Missense_Mutation_p.A168T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAAAGAGCTCACTCTGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	19		NA											NA				2877458		2203	4300	6503	SO:0001583	missense			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000	80032	80032		Zinc fingers, C2H2-type, -	25669	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024967	XM_005259647	NA	Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000586426.1:c.499G>A	19.37:g.2877458G>A	ENSP00000467366:p.Ala167Thr	NA	Q96GM3	37		.	.	.	.	.	.	.	.	.	.	G	7.568	0.666085	0.14710	.	.	ENSG00000172000	ENST00000307635	T	0.00840	5.63	2.27	-0.126	0.13515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00384	0.0012	N	0.00996	-1.065	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42965	-0.9420	9	0.18276	T	0.48	.	2.4888	0.04605	0.6077:0.0:0.1578:0.2345	.	168	Q9HAH1	ZN556_HUMAN	T	168	ENSP00000302603:A168T	ENSP00000302603:A168T	A	+	1	0	ZNF556	2828458	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.042000	0.12063	-0.395000	0.07715	-0.481000	0.04817	GCT	ZNF556-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000451639.2		+	ENST00000586426.1	Missense_Mutation	SNP	19 : 2877458 - 2877458 A PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	480	89
ZNF615	284370	broad.mit.edu	37	19	52497760	52497760	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:52497760T>C	ENST00000602063.1	-	6	918	c.569A>G	c.(568-570)cAg>cGg	p.Q190R	ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTAATGAACTGGGACTTATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	189	189			NA	NA	19		NA											NA				52497760		2203	4300	6503	SO:0001583	missense			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08					284370	284370		Zinc fingers, C2H2-type, -	24740	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198480	NM_001199324	NA	Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.569A>G	19.37:g.52497760T>C	ENSP00000473089:p.Gln190Arg	NA	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	9.187	1.025164	0.19433	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07567	3.2;3.18	3.2	-0.408	0.12381	.	.	.	.	.	T	0.04497	0.0123	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.29037	0.089;0.231;0.231;0.089	B;B;B;B	0.27796	0.038;0.083;0.083;0.038	T	0.45760	-0.9239	9	0.21540	T	0.41	.	5.0526	0.14516	0.3115:0.0:0.1615:0.527	.	195;197;201;190	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	R	190;200;195;200	ENSP00000365906:Q190R;ENSP00000375672:Q195R	ENSP00000347019:Q200R	Q	-	2	0	ZNF615	57189572	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.644000	0.24766	-0.316000	0.08690	0.533000	0.62120	CAG	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462391.1		-	ENST00000602063.1	Missense_Mutation	SNP	19 : 52497760 - 52497760 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1078	131
ZRANB3	84083	broad.mit.edu	37	2	135988368	135988368	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:135988368T>C	ENST00000401392.1	-	13	1881	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A	ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.T557A			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	557						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GCTGTTTTTGTAGGGTCTGAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	142	144			NA	NA	2		NA											NA				135988368		1890	4117	6007	SO:0001583	missense			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988	84083	84083		Zinc fingers, RAN-binding domain containing	25249	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032143	XM_005263809	NA	Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000401392.1:c.1669A>G	2.37:g.135988368T>C	ENSP00000383979:p.Thr557Ala	NA	B5MDI3|Q9H0E8	37		.	.	.	.	.	.	.	.	.	.	T	2.144	-0.396008	0.04899	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90563	-2.69;-2.69;-2.67	5.5	0.8	0.18672	.	1.127580	0.06294	N	0.699719	T	0.81049	0.4742	N	0.24115	0.695	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.17979	0.014;0.02	T	0.64162	-0.6472	10	0.09843	T	0.71	-1.9716	5.2144	0.15334	0.0:0.4531:0.1793:0.3676	.	557;557	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	A	22;22;557;557;557	ENSP00000383979:T557A;ENSP00000264159:T557A;ENSP00000441320:T557A	ENSP00000264159:T557A	T	-	1	0	ZRANB3	135704838	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.242000	0.08928	0.121000	0.18284	-0.371000	0.07208	ACA	ZRANB3-002	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000318255.3		-	ENST00000401392.1	Missense_Mutation	SNP	2 : 135988368 - 135988368 C PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	520	42
ZSCAN5B	342933	broad.mit.edu	37	19	56701318	56701318	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56701318C>T	ENST00000586855.2	-	5	1679	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	456					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGCTGGTGAACGTTCAGGTTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	91	91			NA	NA	19		NA											NA				56701318		2090	4246	6336	SO:0001583	missense				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213	342933	342933		-, Zinc fingers, C2H2-type	34246	protein-coding gene	gene with protein product					NA		Standard	NM_001080456	NM_001080456	NA	Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1366G>A	19.37:g.56701318C>T	ENSP00000466072:p.Val456Ile	NA		37	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457212	0.12342	.	.	ENSG00000197213	ENST00000358992	T	0.35973	1.28	3.57	-0.0824	0.13698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16854	0.0405	N	0.22421	0.69	0.09310	N	1	P	0.47350	0.894	B	0.36808	0.233	T	0.16012	-1.0417	9	0.56958	D	0.05	.	0.8009	0.01075	0.1894:0.3971:0.1855:0.2281	.	456	A6NJL1	ZSA5B_HUMAN	I	456	ENSP00000351883:V456I	ENSP00000351883:V456I	V	-	1	0	ZSCAN5B	61393130	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.153000	0.01287	-0.021000	0.14009	-0.384000	0.06662	GTT	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457834.2		-	ENST00000586855.2	Missense_Mutation	SNP	19 : 56701318 - 56701318 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	292	13
ZSWIM5	57643	broad.mit.edu	37	1	45486422	45486422	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:45486422G>T	ENST00000359600.5	-	12	2693	c.2488C>A	c.(2488-2490)Cag>Aag	p.Q830K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	830							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATGTGCTTCTGTATTGCTTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	258	260			NA	NA	1		NA											NA				45486422		1944	4143	6087	SO:0001583	missense			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415	57643	57643		Zinc fingers, SWIM-type	29299	protein-coding gene	gene with protein product					NA	10819331	Standard	XM_046581	NM_020883	NA	Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2488C>A	1.37:g.45486422G>T	ENSP00000352614:p.Gln830Lys	NA	Q5SXQ9	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028140	0.93518	.	.	ENSG00000162415	ENST00000359600	T	0.49720	0.77	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	M	0.79258	2.445	0.80722	D	1	D	0.58620	0.983	D	0.63488	0.915	T	0.69468	-0.5137	10	0.48119	T	0.1	-12.8264	19.6388	0.95749	0.0:0.0:1.0:0.0	.	830	Q9P217	ZSWM5_HUMAN	K	830	ENSP00000352614:Q830K	ENSP00000352614:Q830K	Q	-	1	0	ZSWIM5	45259009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.173000	0.94815	2.815000	0.96918	0.561000	0.74099	CAG	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024823.2		-	ENST00000359600.5	Missense_Mutation	SNP	1 : 45486422 - 45486422 T PAAD-TCGA-HZ-7918-Tumor-SM-2NW7U	1109	177
