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
ABCF3	55324	broad.mit.edu	37	3	183911015	183911015	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:183911015A>G	ENST00000429586.2	+	19	2061	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	626	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGATGACTATGCCCTGGTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	90			NA	NA	3		NA											NA				183911015		2203	4300	6503	SO:0001583	missense			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204	55324	55324		ATP binding cassette transporters / subfamily F	72	protein-coding gene	gene with protein product					NA	8894702	Standard	NM_018358	NM_018358	NA	Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1876A>G	3.37:g.183911015A>G	ENSP00000411471:p.Met626Val	NA	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	37	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107864	0.56291	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.84800	-1.9;-1.9	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	N	0.10945	0.07	0.80722	D	1	P;P	0.43352	0.619;0.804	B;B	0.44044	0.341;0.439	T	0.80070	-0.1536	10	0.52906	T	0.07	-29.4571	13.9755	0.64271	1.0:0.0:0.0:0.0	.	620;626	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	V	626;620	ENSP00000411471:M626V;ENSP00000292808:M620V	ENSP00000292808:M620V	M	+	1	0	ABCF3	185393709	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.140000	0.66376	0.460000	0.39030	ATG	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346047.1		+	ENST00000429586.2	Missense_Mutation	SNP	3 : 183911015 - 183911015 G PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	669	173
ACKR3	57007	broad.mit.edu	37	2	237489775	237489775	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:237489775G>A	ENST00000272928.3	+	2	977	c.667G>A	c.(667-669)Gtt>Att	p.V223I		NM_020311.2	NP_064707.1			atypical chemokine receptor 3	NA											NA						GGGCTTTGCCGTTCCCTTCTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	101	108			NA	NA	2		NA											NA				237489775		2203	4300	6503	SO:0001583	missense			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476	57007	57007		CD molecules, GPCR / Class A : Chemokine receptors : Atypical	23692	protein-coding gene	gene with protein product		610376	chemokine orphan receptor 1, chemokine (C-X-C motif) receptor 7	CMKOR1, CXCR7	NA	16107333, 16148	Standard	NM_020311	NM_020311	NA	Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.667G>A	2.37:g.237489775G>A	ENSP00000272928:p.Val223Ile	NA		37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.085927	0.00371	.	.	ENSG00000144476	ENST00000272928	T	0.35236	1.32	5.7	-1.77	0.07982	GPCR, rhodopsin-like superfamily (1);	0.187304	0.44285	N	0.000467	T	0.09335	0.0230	N	0.01284	-0.91	0.21553	N	0.999647	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	9	.	.	.	.	6.4353	0.21819	0.5745:0.1246:0.3009:0.0	.	223	P25106	CXCR7_HUMAN	I	223	ENSP00000272928:V223I	.	V	+	1	0	CXCR7	237154514	0.013000	0.17824	0.000000	0.03702	0.006000	0.05464	0.344000	0.19962	-0.397000	0.07691	0.655000	0.94253	GTT	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257079.2		+	ENST00000272928.3	Missense_Mutation	SNP	2 : 237489775 - 237489775 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	440	6
ADAMTSL4	54507	broad.mit.edu	37	1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:150528719C>T	ENST00000369038.2	+	7	1654	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	485					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTACCTGTCGCCTTGTTTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	96	97		1453,1453	4.7	0.9	1		97	0,8600		0,0,4300	no	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	180,180	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	485/1075,485/878	150528719	1,13005	2203	4300	6503	SO:0001583	missense			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382	54507	54507			19706	protein-coding gene	gene with protein product		610113	thrombospondin repeat containing 1	TSRC1	NA	12706885	Standard	NM_019032	NM_019032	NA	Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1453C>T	1.37:g.150528719C>T	ENSP00000358034:p.Arg485Cys	NA	Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599584	0.66332	2.27E-4	0.0	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.72	4.72	0.59763	.	.	.	.	.	T	0.71626	0.3362	M	0.71871	2.18	0.44570	D	0.997533	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;P;P;P	0.63113	0.911;0.901;0.88;0.809	T	0.75736	-0.3213	9	0.87932	D	0	.	10.2988	0.43639	0.1967:0.8033:0.0:0.0	.	508;508;485;485	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	485;485;508;485	ENSP00000358037:R485C;ENSP00000271643:R485C;ENSP00000358035:R508C;ENSP00000358034:R485C	ENSP00000271643:R485C	R	+	1	0	ADAMTSL4	148795343	0.400000	0.25295	0.898000	0.35279	0.996000	0.88848	2.063000	0.41423	2.449000	0.82847	0.462000	0.41574	CGC	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084395.4		+	ENST00000369038.2	Missense_Mutation	SNP	1 : 150528719 - 150528719 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	856	176
APBA2	321	broad.mit.edu	37	15	29397624	29397624	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:29397624G>T	ENST00000558402.1	+	12	2166	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	APBA2_ENST00000558259.1_Missense_Mutation_p.A523S|APBA2_ENST00000411764.1_Missense_Mutation_p.A511S|APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	523	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTTCAGCGTGGCCTACCAGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	70	79			NA	NA	15		NA											NA				29397624		2201	4300	6501	SO:0001583	missense			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053	321	321			579	protein-coding gene	gene with protein product		602712	X11-like, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)	X11L, MINT2	NA	8955346	Standard	NM_005503	NM_005503	NA	Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1567G>T	15.37:g.29397624G>T	ENSP00000453293:p.Ala523Ser	NA	O60571	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292777	0.80914	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.22336	1.96	4.32	3.4	0.38934	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.211286	0.40385	N	0.001111	T	0.50017	0.1591	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.985;0.999;1.0	P;D;D	0.91635	0.865;0.993;0.999	T	0.59343	-0.7472	10	0.72032	D	0.01	.	13.037	0.58877	0.0:0.0:0.8378:0.1622	.	511;511;523	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	S	511;523	ENSP00000409312:A511S	ENSP00000219865:A523S	A	+	1	0	APBA2	27184916	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.352000	0.97076	1.130000	0.42092	-0.310000	0.09108	GCC	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251362.3		+	ENST00000558402.1	Missense_Mutation	SNP	15 : 29397624 - 29397624 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	181	62
ARAP1	116985	broad.mit.edu	37	11	72406856	72406856	+	Silent	SNP	C	C	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:72406856C>G	ENST00000359373.5	-	24	4178	c.3327G>C	c.(3325-3327)gtG>gtC	p.V1109V	ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000393609.3_Silent_p.V1109V|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000455638.2_Silent_p.V1109V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1109	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGCCCAAACACAATTGCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(102;1198 1520 13195 17913 37529)							NA				0													124	91	102			NA	NA	11		NA											NA				72406856		2200	4293	6493	SO:0001819	synonymous_variant			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635	116985	116985		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16925	protein-coding gene	gene with protein product		606646	centaurin, delta 2	CENTD2	NA		Standard	NM_001040118	NM_001040118	NA	Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000359373.5:c.3327G>C	11.37:g.72406856C>G		NA	A3KLL7|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	37																																																																																				ARAP1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000347429.2		-	ENST00000359373.5	Silent	SNP	11 : 72406856 - 72406856 G PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	120	11
ARHGAP31	57514	broad.mit.edu	37	3	119132851	119132851	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:119132851C>T	ENST00000264245.4	+	12	2607	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	692	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTCTGGGGCCCTTTATTCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													127	129	128			NA	NA	3		NA											NA				119132851		1949	4146	6095	SO:0001583	missense				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2075C>T	3.37:g.119132851C>T	ENSP00000264245:p.Pro692Leu	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896949	0.33535	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06142	3.34	4.89	4.01	0.46588	.	0.998160	0.08112	N	0.996113	T	0.06325	0.0163	L	0.32530	0.975	0.09310	N	0.999999	B	0.27229	0.172	B	0.22386	0.039	T	0.34750	-0.9816	10	0.48119	T	0.1	.	7.3783	0.26841	0.1709:0.7374:0.0:0.0917	.	692	Q2M1Z3	RHG31_HUMAN	L	692	ENSP00000264245:P692L	ENSP00000264245:P692L	P	+	2	0	ARHGAP31	120615541	0.000000	0.05858	0.016000	0.15963	0.012000	0.07955	1.015000	0.29963	1.284000	0.44531	-0.169000	0.13324	CCC	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119132851 - 119132851 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	918	210
ARHGAP36	158763	broad.mit.edu	37	X	130222630	130222630	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:130222630C>T	ENST00000370922.1	+	12	1509	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000276211.5_Silent_p.S505S	NM_001282607.1	NP_001269536.1	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	505					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGTGCCTTCCGGCACTGCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,3834		0,1,1631,571	51	44	47		1515	-0.8	0.1	X		47	0,6728		0,0,2428,1872	no	coding-synonymous	ARHGAP36	NM_144967.3		0,1,4059,2443	TT,TC,CC,C	NA	0.0,0.0261,0.0095		505/548	130222630	1,10562	2203	4300	6503	SO:0001819	synonymous_variant				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256	158763	158763		Rho GTPase activating proteins	26388	protein-coding gene	gene with protein product					NA		Standard	NM_144967	NM_144967	NA	Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000370922.1:c.1479C>T	X.37:g.130222630C>T		NA	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	37																																																																																				ARHGAP36-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000058279.1		+	ENST00000370922.1	Silent	SNP	X : 130222630 - 130222630 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	136	43
ATRNL1	26033	broad.mit.edu	37	10	117061456	117061456	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:117061456G>C	ENST00000355044.3	+	17	2847	c.2721G>C	c.(2719-2721)atG>atC	p.M907I	ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	907	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGAGTGTATGTGGTGCAGCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													283	203	230			NA	NA	10		NA											NA				117061456		2203	4300	6503	SO:0001583	missense			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518	26033	26033			29063	protein-coding gene	gene with protein product		612869			NA	9628581	Standard	XM_049349	NM_001276282	NA	Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2721G>C	10.37:g.117061456G>C	ENSP00000347152:p.Met907Ile	NA	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	37	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789583|3.789583	0.70337|0.70337	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.21932|.	2.34;1.98|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68668|0.68668	0.3026|0.3026	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	P;D|.	0.54964|.	0.936;0.969|.	P;D|.	0.70227|.	0.885;0.968|.	T|T	0.63413|0.63413	-0.6643|-0.6643	10|5	0.30854|.	T|.	0.27|.	-11.4902|-11.4902	19.7031|19.7031	0.96063|0.96063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;907|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	I|L	907;4|37	ENSP00000347152:M907I;ENSP00000409624:M4I|.	ENSP00000347152:M907I|.	M|V	+|+	3|1	0|0	ATRNL1|ATRNL1	117051446|117051446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.754000|9.754000	0.98908|0.98908	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	ATG|GTG	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050507.3		+	ENST00000355044.3	Missense_Mutation	SNP	10 : 117061456 - 117061456 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	273	71
BCL6B	255877	broad.mit.edu	37	17	6927434	6927434	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:6927434C>T	ENST00000293805.5	+	3	304	c.212C>T	c.(211-213)gCg>gTg	p.A71V	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	71	BTB.					nucleus	zinc ion binding			skin(1)	1						CGGGGCCGTGCGGGAGTCGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	90	87			NA	NA	17		NA											NA				6927434		1904	4109	6013	SO:0001583	missense			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940	255877	255877		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	1002	protein-coding gene	gene with protein product		608992	zinc finger protein 62, B-cell CLL/lymphoma 6, member B (zinc finger protein)	ZNF62	NA	9632807	Standard	NM_181844	NM_181844	NA	Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.212C>T	17.37:g.6927434C>T	ENSP00000293805:p.Ala71Val	NA	Q6PCB4	37	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729881	0.48833	.	.	ENSG00000161940	ENST00000293805	T	0.70282	-0.47	5.07	5.07	0.68467	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.483098	0.22285	N	0.062075	T	0.50956	0.1646	N	0.16166	0.38	0.31830	N	0.624817	B	0.26672	0.156	B	0.16722	0.016	T	0.58589	-0.7610	10	0.56958	D	0.05	.	9.3794	0.38304	0.0:0.9052:0.0:0.0948	.	71	Q8N143	BCL6B_HUMAN	V	71	ENSP00000293805:A71V	ENSP00000293805:A71V	A	+	2	0	BCL6B	6868158	0.158000	0.22850	0.998000	0.56505	0.993000	0.82548	0.297000	0.19101	2.635000	0.89317	0.563000	0.77884	GCG	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439455.2		+	ENST00000293805.5	Missense_Mutation	SNP	17 : 6927434 - 6927434 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	796	7
CA6	765	broad.mit.edu	37	1	9011554	9011554	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:9011554G>A	ENST00000377436.3	+	2	259				CA6_ENST00000480186.3_Missense_Mutation_p.R111K|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron	NM_001270500.1	NP_001257429.1	P23280	CAH6_HUMAN	carbonic anhydrase VI	NA					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGCCAAAGGCAGTGGCTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	38	39			NA	NA	1		NA											NA				9011554		876	1991	2867	SO:0001627	intron_variant			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	765	765	4.2.1.1	Carbonic anhydrases	1380	protein-coding gene	gene with protein product		114780			NA	9691177	Standard		NM_001215	NA	Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377436.3:c.259+2053G>A	1.37:g.9011554G>A		NA	Q96QX8|Q9UF03	37	CCDS57970.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512281	0.27036	.	.	ENSG00000131686	ENST00000319474	T	0.32515	1.45	1.33	-0.848	0.10727	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28459	-1.0043	6	0.49607	T	0.09	.	1.8652	0.03197	0.2281:0.0:0.4491:0.3227	.	.	.	.	K	111	ENSP00000325786:R111K	ENSP00000325786:R111K	R	+	2	0	CA6	8934141	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	0.024000	0.13555	-0.268000	0.09312	0.449000	0.29647	AGG	CA6-005	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407379.1		+	ENST00000377436.3	Intron	SNP	1 : 9011554 - 9011554 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	139	27
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:104904955C>T	ENST00000528974.1	-	2	201	c.137G>A	c.(136-138)gGg>gAg	p.G46E	CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000533400.1_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E			P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCCAGCGTCCCTGCCAGGTA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(41;1246 1743 4934)							NA				2	Substitution - Missense(2)	NS(1)|endometrium(1)											185	166	172			NA	NA	11		NA											NA				104904955		2202	4299	6501	SO:0001583	missense			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752	834	834		Caspases	1499	protein-coding gene	gene with protein product	caspase-1, interleukin 1, beta, convertase	147678	caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase), caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)	IL1BC	NA	1373520, 9250871	Standard	NM_033292	NM_033292	NA	Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000528974.1:c.137G>A	11.37:g.104904955C>T	ENSP00000434259:p.Gly46Glu	NA	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	37		.	.	.	.	.	.	.	.	.	.	.	0.205	-1.041669	0.02013	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.83	-8.48	0.00935	DEATH-like (2);Caspase Recruitment (3);	0.759254	0.12546	N	0.459494	T	0.05823	0.0152	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.2173	0.31519	0.0:0.3778:0.1052:0.517	rs2509649	85;46;85;85;69	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	E	69;85;85;85;85;46	ENSP00000432340:G69E;ENSP00000433138:G85E;ENSP00000410076:G85E;ENSP00000376844:G85E;ENSP00000434779:G85E;ENSP00000434259:G46E	ENSP00000376844:G85E	G	-	2	0	CASP1	104410165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-1.188000	0.02705	-1.472000	0.01007	GGG	CASP1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000388122.1		-	ENST00000528974.1	Missense_Mutation	SNP	11 : 104904955 - 104904955 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	450	6
CDC42BPB	9578	broad.mit.edu	37	14	103450025	103450025	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:103450025G>A	ENST00000361246.2	-	7	1047	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	253	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCATGCCGTCCTCCATCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	93	86	88		759	-4.4	1	14		88	0,8600		0,0,4300	no	coding-synonymous	CDC42BPB	NM_006035.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		253/1712	103450025	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752	9578	9578			1738	protein-coding gene	gene with protein product		614062	CDC42-binding protein kinase beta (DMPK-like)		NA	10198171	Standard	NM_006035	NM_006035	NA	Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.759C>T	14.37:g.103450025G>A		NA	Q2L7A5|Q86TJ1|Q9ULU5	37	CCDS9978.1																																																																																			CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415711.1		-	ENST00000361246.2	Silent	SNP	14 : 103450025 - 103450025 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	219	6
CDKN2A	1029	broad.mit.edu	37	9	21971143	21971152	+	Frame_Shift_Del	DEL	CAGTTGGGCT	CAGTTGGGCT	-			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CAGTTGGGCT	CAGTTGGGCT	-	-	CAGTTGGGCT	CAGTTGGGCT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:21971143_21971152delCAGTTGGGCT	ENST00000479692.2	-	2	67_76	c.53_62delAGCCCAACTG	c.(52-63)gagcccaactgcfs	p.EPNC18fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCCGCGCCGTG	0.719		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1395	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(17)|Deletion - Frameshift(13)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(286)|skin(178)|central_nervous_system(168)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(61)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(37)|pancreas(34)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)	GRCh37	CD044135|CM023691|CM040398|CM065061|CM940228|CM980328|CM983987	CDKN2A|p14arf	D|M							NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.53_62delAGCCCAACTG	9.37:g.21971143_21971152delCAGTTGGGCT	ENSP00000466887:p.Glu18fs	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37																																																																																				CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Frame_Shift_Del	DEL	9 : 21971143 - 21971152 - PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	74	22
CLSTN2	64084	broad.mit.edu	37	3	140282022	140282022	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:140282022G>A	ENST00000458420.3	+	15	2649	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	820					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTGAGTCCCGGAGTAGCATC	0.512		NA								HNSCC(16;0.037)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(45;858 913 3709 36904 37282)							NA				0													137	121	126			NA	NA	3		NA											NA				140282022		2203	4300	6503	SO:0001583	missense			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258	64084	64084		Cadherins / Cadherin-related	17448	protein-coding gene	gene with protein product	cadherin-related family member 13	611323			NA	12498782	Standard	NM_022131	NM_022131	NA	Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2459G>A	3.37:g.140282022G>A	ENSP00000402460:p.Arg820Gln	NA	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048756	0.19827	.	.	ENSG00000158258	ENST00000458420	T	0.32515	1.45	5.4	-1.53	0.08611	.	1.541910	0.04448	N	0.372030	T	0.11239	0.0274	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27157	-1.0082	9	.	.	.	-9.2662	9.9589	0.41684	0.5434:0.0:0.4566:0.0	.	820	Q9H4D0	CSTN2_HUMAN	Q	820	ENSP00000402460:R820Q	.	R	+	2	0	CLSTN2	141764712	0.000000	0.05858	0.988000	0.46212	0.992000	0.81027	0.351000	0.20096	-0.222000	0.09958	0.655000	0.94253	CGG	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359393.3		+	ENST00000458420.3	Missense_Mutation	SNP	3 : 140282022 - 140282022 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	526	133
COL22A1	169044	broad.mit.edu	37	8	139838972	139838972	+	Missense_Mutation	SNP	G	G	A	rs138591562		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:139838972G>A	ENST00000303045.6	-	6	1344	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	300	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCTGAACCGGAAGGTTGTG	0.517		NA								HNSCC(7;0.00092)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	126	104	111		898	5.2	1	8	dbSNP_134	111	0,8600		0,0,4300	yes	missense	COL22A1	NM_152888.1	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	300/1627	139838972	1,13005	2203	4300	6503	SO:0001583	missense			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.898C>T	8.37:g.139838972G>A	ENSP00000303153:p.Arg300Trp	NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404229	0.83230	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.21734	1.99;1.99	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.167535	0.27881	N	0.017469	T	0.46718	0.1407	M	0.83774	2.66	0.39206	D	0.963233	D	0.89917	1.0	D	0.69654	0.965	T	0.52358	-0.8586	9	.	.	.	.	11.6388	0.51220	0.0:0.0:0.7166:0.2834	.	300	Q8NFW1	COMA1_HUMAN	W	300	ENSP00000303153:R300W;ENSP00000387655:R300W	.	R	-	1	2	COL22A1	139908154	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.826000	0.75298	2.452000	0.82932	0.644000	0.83932	CGG	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Missense_Mutation	SNP	8 : 139838972 - 139838972 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	261	4
CR2	1380	broad.mit.edu	37	1	207642232	207642232	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:207642232T>A	ENST00000367057.3	+	4	911	c.722T>A	c.(721-723)tTc>tAc	p.F241Y	CR2_ENST00000367058.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000367059.3_Missense_Mutation_p.F241Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	241	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCAAACTTTTTCTGTGATGAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	68			NA	NA	1		NA											NA				207642232		2203	4300	6503	SO:0001583	missense			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322	1380	1380		CD molecules, Complement system	2336	protein-coding gene	gene with protein product		120650			NA		Standard	NM_001877	NM_001006658	NA	Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367057.3:c.722T>A	1.37:g.207642232T>A	ENSP00000356024:p.Phe241Tyr	NA	Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	37	CCDS31007.1	.	.	.	.	.	.	.	.	.	.	T	7.620	0.676604	0.14841	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	-0.327	0.12694	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46092	0.1375	N	0.11284	0.12	0.09310	N	1	B;P;B	0.40578	0.376;0.722;0.325	B;P;B	0.48921	0.426;0.595;0.3	T	0.37596	-0.9699	9	0.51188	T	0.08	.	3.5273	0.07763	0.3165:0.4366:0.0:0.2469	.	241;241;241	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	241	ENSP00000356025:F241Y;ENSP00000356024:F241Y;ENSP00000356026:F241Y;ENSP00000404222:F241Y	ENSP00000356024:F241Y	F	+	2	0	CR2	205708855	0.003000	0.15002	0.016000	0.15963	0.002000	0.02628	0.038000	0.13862	-0.015000	0.14150	-1.098000	0.02139	TTC	CR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088325.1		+	ENST00000367057.3	Missense_Mutation	SNP	1 : 207642232 - 207642232 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	370	18
CYP11B2	1585	broad.mit.edu	37	8	143994080	143994080	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:143994080G>A	ENST00000323110.2	-	8	1266	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	422					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGATTATACCGCTCAGGCCTC	0.622		NA							Familial Hyperaldosteronism type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	8		NA											NA				143994080		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1585	1585	1.14.15.4	Cytochrome P450s	2592	protein-coding gene	gene with protein product	steroid 11-beta-monooxygenase	124080	cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2	CYP11B	NA	1303253	Standard		NM_000498	NA	Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1264C>T	8.37:g.143994080G>A	ENSP00000325822:p.Arg422Trp	NA	B0ZBE4|Q16726	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.36	2.511841	0.44660	.	.	ENSG00000179142	ENST00000323110	T	0.70164	-0.46	3.52	0.551	0.17225	.	0.399630	0.21610	N	0.071815	T	0.78272	0.4257	M	0.89968	3.075	0.26442	N	0.975755	D	0.76494	0.999	D	0.64877	0.93	T	0.67142	-0.5745	10	0.87932	D	0	.	3.2888	0.06942	0.1067:0.1729:0.5433:0.1771	.	422	P19099	C11B2_HUMAN	W	422	ENSP00000325822:R422W	ENSP00000325822:R422W	R	-	1	2	CYP11B2	143991082	0.994000	0.37717	0.171000	0.22900	0.001000	0.01503	1.534000	0.36051	0.253000	0.21552	-0.302000	0.09304	CGG	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359904.1		-	ENST00000323110.2	Missense_Mutation	SNP	8 : 143994080 - 143994080 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	474	6
DCAF12L1	139170	broad.mit.edu	37	X	125685938	125685938	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	33			NA	NA	X		NA											NA				125685938		2201	4296	6497	SO:0001819	synonymous_variant			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889	139170	139170		WD repeat domain containing	29395	protein-coding gene	gene with protein product			WD repeat domain 40B	WDR40B	NA	12477932	Standard	NM_178470	NM_178470	NA	Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.654G>A	X.37:g.125685938C>T		NA	Q8IYK3	37	CCDS14610.1																																																																																			DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058186.1		-	ENST00000371126.1	Silent	SNP	X : 125685938 - 125685938 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	242	90
DLG3	1741	broad.mit.edu	37	X	69672545	69672545	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:69672545G>T	ENST00000374355.3	+	1	391	c.74G>T	c.(73-75)aGg>aTg	p.R25M	DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374360.3_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCGGCCTGGAGGAGGGCTTCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	X		NA											NA				69672545		1949	4121	6070	SO:0001583	missense			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458	1741	1741			2902	protein-coding gene	gene with protein product	neuroendocrine-dlg, protein phosphatase 1, regulatory subunit 82	300189	discs, large homolog 3 (neuroendocrine-dlg, Drosophila)		NA	9598320	Standard	NM_021120	NM_021120	NA	Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374355.3:c.74G>T	X.37:g.69672545G>T	ENSP00000363475:p.Arg25Met	NA	D3DVU5|Q5JUW7|Q9ULI8	37	CCDS43967.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696495	0.48202	.	.	ENSG00000082458	ENST00000374355	T	0.15718	2.4	3.77	2.89	0.33648	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.80722	D	1	B	0.28713	0.22	B	0.17433	0.018	T	0.20505	-1.0273	7	.	.	.	.	5.645	0.17584	0.1517:0.0:0.8483:0.0	.	25	Q5JUW6	.	M	25	ENSP00000363475:R25M	.	R	+	2	0	DLG3	69589270	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.583000	0.53928	1.875000	0.54330	0.416000	0.27883	AGG	DLG3-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057075.1		+	ENST00000374355.3	Missense_Mutation	SNP	X : 69672545 - 69672545 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	130	13
EDF1	8721	broad.mit.edu	37	9	139756786	139756786	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139756786G>A	ENST00000224073.1	-	5	424	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	EDF1_ENST00000371649.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	133	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTTTCCCCGGAGCTTGAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	178	186			NA	NA	9		NA											NA				139756786		2203	4300	6503	SO:0001583	missense			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223	8721	8721			3164	protein-coding gene	gene with protein product	multiprotein bridging factor-1	605107			NA	9813014, 15112053	Standard		NM_003792	NA	Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.397C>T	9.37:g.139756786G>A	ENSP00000224073:p.Arg133Trp	NA	Q5T5T2|Q9UIM1	37	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836360	0.71373	.	.	ENSG00000107223	ENST00000224073	.	.	.	5.05	3.16	0.36331	Helix-turn-helix type 3 (2);	0.055037	0.85682	D	0.000000	T	0.77246	0.4102	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76982	-0.2757	9	0.87932	D	0	.	8.8018	0.34914	0.0792:0.0:0.771:0.1497	.	133	O60869	EDF1_HUMAN	W	133	.	ENSP00000224073:R133W	R	-	1	2	EDF1	138876607	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.545000	0.67237	0.513000	0.28278	-0.136000	0.14681	CGG	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055143.1		-	ENST00000224073.1	Missense_Mutation	SNP	9 : 139756786 - 139756786 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	722	6
ENTPD2	954	broad.mit.edu	37	9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647		NA									OREG0019627	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													50	57	54			NA	NA	9		NA											NA				139944405		2202	4299	6501	SO:0001583	missense			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179	954	954			3364	protein-coding gene	gene with protein product	CD39-like-1, ecto-ATPase	602012		CD39L1	NA	9271669	Standard	NM_203468	NM_203468	NA	Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1066C>T	9.37:g.139944405G>A	ENSP00000347213:p.Arg356Trp	1652	O15464|Q5SPY6	37	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858624	0.32791	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11712	2.75;2.75	4.33	0.364	0.16124	.	0.673516	0.15484	N	0.259909	T	0.24624	0.0597	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65773	0.897;0.938	T	0.06552	-1.0820	10	0.72032	D	0.01	-34.9035	12.0873	0.53704	0.0:0.0:0.5375:0.4625	.	356;356	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	W	356	ENSP00000347213:R356W;ENSP00000312494:R356W	ENSP00000312494:R356W	R	-	1	2	ENTPD2	139064226	0.000000	0.05858	0.254000	0.24359	0.142000	0.21351	0.253000	0.18296	0.188000	0.20168	-0.397000	0.06425	CGG	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055169.1		-	ENST00000355097.2	Missense_Mutation	SNP	9 : 139944405 - 139944405 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	369	5
FANCM	57697	broad.mit.edu	37	14	45623197	45623197	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:45623197G>A	ENST00000542564.2	+	5	1125	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	FANCM_ENST00000267430.5_Silent_p.Q375Q|FANCM_ENST00000556036.1_Silent_p.Q375Q			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	375					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTATTGCAGCAAATGGGAA	0.284		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	145	143			NA	NA	14		NA											NA				45623197		2203	4299	6502	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.1047G>A	14.37:g.45623197G>A		NA	Q3YFH9|Q8N9X6|Q9HCH6	37																																																																																				FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Silent	SNP	14 : 45623197 - 45623197 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	462	5
FOXJ1	2302	broad.mit.edu	37	17	74136135	74136135	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:74136135G>A	ENST00000322957.6	-	2	696	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	114					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GATTGGTGGCGTAGTCCACGT	0.692		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	9e-04	SNP								NA				0													61	47	52			NA	NA	17		NA											NA				74136135		2203	4300	6503	SO:0001819	synonymous_variant			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654	2302	2302		Forkhead boxes	3816	protein-coding gene	gene with protein product		602291		FKHL13	NA	9073514, 16518568	Standard	NM_001454	NM_001454	NA	Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.342C>T	17.37:g.74136135G>A		NA	O00630	37	CCDS32739.1																																																																																			FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449856.1		-	ENST00000322957.6	Silent	SNP	17 : 74136135 - 74136135 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	282	73
GLI1	2735	broad.mit.edu	37	12	57859598	57859598	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:57859598C>T	ENST00000228682.2	+	7	743	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	GLI1_ENST00000543426.1_Missense_Mutation_p.R90W|GLI1_ENST00000546141.1_Missense_Mutation_p.R177W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	218					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCTGGATGGGCGGGAGGACCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(157;841 1936 10503 41495 50368)							NA				0													91	91	91			NA	NA	12		NA											NA				57859598		2203	4300	6503	SO:0001583	missense				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087	2735	2735		Zinc fingers, C2H2-type	4317	protein-coding gene	gene with protein product		165220	glioma-associated oncogene homolog 1 (zinc finger protein), glioma-associated oncogene family zinc finger 1	GLI	NA	2850480	Standard	NM_005269	NM_005269	NA	Approved		uc001snx.3	P08151		ENST00000228682.2:c.652C>T	12.37:g.57859598C>T	ENSP00000228682:p.Arg218Trp	NA	Q8TDN9	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596133	0.66332	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74315	-0.83;2.57;2.49;2.57;2.57	4.45	2.42	0.29668	.	0.000000	0.47093	D	0.000256	T	0.81597	0.4856	L	0.57536	1.79	0.53688	D	0.999972	D	0.89917	1.0	D	0.71414	0.973	D	0.83420	0.0032	10	0.87932	D	0	.	12.4989	0.55944	0.2978:0.7022:0.0:0.0	.	218	P08151	GLI1_HUMAN	W	90;90;218;177;177;90	ENSP00000436671:R90W;ENSP00000437607:R90W;ENSP00000228682:R218W;ENSP00000441006:R177W;ENSP00000434408:R177W	ENSP00000228682:R218W	R	+	1	2	GLI1	56145865	0.984000	0.35163	0.999000	0.59377	0.915000	0.54546	0.836000	0.27545	1.196000	0.43129	0.591000	0.81541	CGG	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394197.1		+	ENST00000228682.2	Missense_Mutation	SNP	12 : 57859598 - 57859598 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	529	22
GPR112	139378	broad.mit.edu	37	X	135487991	135487991	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:135487991G>A	ENST00000394143.1	+	23	9086	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2932					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2932Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGACTCGGCGGAAGATGATC	0.458		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)											150	131	137			NA	NA	X		NA											NA				135487991		2203	4300	6503	SO:0001583	missense			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	139378	139378		-, GPCR / Class B : Orphans	18992	protein-coding gene	gene with protein product					NA	12435584	Standard		XM_005262367	NA	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8795G>A	X.37:g.135487991G>A	ENSP00000377699:p.Arg2932Gln	NA	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883870	0.33255	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.71	-2.74	0.05932	GPCR, family 2-like (1);	.	.	.	.	T	0.28300	0.0699	L	0.39147	1.195	0.09310	N	1	P;B	0.36048	0.534;0.129	B;B	0.33750	0.059;0.169	T	0.13176	-1.0519	9	0.66056	D	0.02	.	13.1032	0.59233	0.6964:0.0:0.3036:0.0	.	2727;2932	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2932;2932;2727;2685;2727	ENSP00000377699:R2932Q;ENSP00000359686:R2932Q;ENSP00000416526:R2727Q;ENSP00000287534:R2685Q;ENSP00000377697:R2727Q	ENSP00000287534:R2685Q	R	+	2	0	GPR112	135315657	0.000000	0.05858	0.001000	0.08648	0.385000	0.30292	-0.544000	0.06077	-0.868000	0.04058	-0.208000	0.12717	CGG	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286639.1		+	ENST00000394143.1	Missense_Mutation	SNP	X : 135487991 - 135487991 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	683	5
GYS1	2997	broad.mit.edu	37	19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:49485993G>A	ENST00000263276.6	-	5	930	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	GYS1_ENST00000540532.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000323798.3_Missense_Mutation_p.R309W	NM_001161587.1	NP_001155059.1	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	105	103			NA	NA	19		NA											NA				49485993		2203	4300	6503	SO:0001583	missense				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2997	2997	2.4.1.11	Glycosyltransferase group 1 domain containing	4706	protein-coding gene	gene with protein product		138570		GYS	NA		Standard	NM_002103	NM_002103	NA	Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000263276.6:c.733C>T	19.37:g.49485993G>A	ENSP00000263276:p.Arg245Trp	NA		37	CCDS54292.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG	GYS1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319796.1		-	ENST00000263276.6	Missense_Mutation	SNP	19 : 49485993 - 49485993 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	621	5
HAS1	3036	broad.mit.edu	37	19	52220299	52220299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:52220299G>A	ENST00000540069.2	-	3	907	c.847C>T	c.(847-849)Cga>Tga	p.R283*	HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*|HAS1_ENST00000222115.1_Nonsense_Mutation_p.R284*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*			Q92839	HAS1_HUMAN	hyaluronan synthase 1	284					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACCCAGTATCGCAGGCTGCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(132;636 2450 45807 47979)							NA				0													111	106	108			NA	NA	19		NA											NA				52220299		2203	4300	6503	SO:0001587	stop_gained			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	3036	3036	2.4.1.212	Glycosyltransferase family 2 domain containing	4818	protein-coding gene	gene with protein product		601463		HAS	NA	9169154	Standard	NM_001523	XM_005258834	NA	Approved		uc002pxo.1	Q92839		ENST00000540069.2:c.847C>T	19.37:g.52220299G>A	ENSP00000445021:p.Arg283*	NA	Q14470|Q9NS49	37		.	.	.	.	.	.	.	.	.	.	g	36	5.695940	0.96802	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	.	.	.	4.08	2.95	0.34219	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9004	9.8479	0.41039	0.0:0.0:0.6878:0.3122	.	.	.	.	X	283;284;141;138	.	ENSP00000222115:R284X	R	-	1	2	HAS1	56912111	0.220000	0.23631	1.000000	0.80357	0.993000	0.82548	0.628000	0.24522	2.014000	0.59158	0.489000	0.48404	CGA	HAS1-001	NOVEL	NAGNAG_splice_site|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000466902.2		-	ENST00000540069.2	Nonsense_Mutation	SNP	19 : 52220299 - 52220299 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	587	165
HIST1H2BM	8342	broad.mit.edu	37	6	27782982	27782982	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:27782982G>A	ENST00000359465.4	+	1	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	54					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CCCGACACCGGCATCTCTTCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	177	181			NA	NA	6		NA											NA				27782982		2203	4300	6503	SO:0001583	missense			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703	8342	8342		Histones / Replication-dependent	4750	protein-coding gene	gene with protein product		602802	H2B histone family, member E, histone 1, H2bm	H2BFE	NA	9439656, 12408966	Standard	NM_003521	NM_003521	NA	Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.161G>A	6.37:g.27782982G>A	ENSP00000352442:p.Gly54Asp	NA	Q6NWQ3	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332818	0.41297	.	.	ENSG00000196374	ENST00000359465	T	0.69435	-0.4	4.29	4.29	0.51040	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.86648	0.5983	H	0.98487	4.245	0.80722	D	1	D	0.58970	0.984	D	0.65140	0.932	D	0.91772	0.5428	10	0.87932	D	0	.	16.2598	0.82535	0.0:0.0:1.0:0.0	.	54	Q99879	H2B1M_HUMAN	D	54	ENSP00000352442:G54D	ENSP00000352442:G54D	G	+	2	0	HIST1H2BM	27890961	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	9.147000	0.94646	2.373000	0.80994	0.563000	0.77884	GGC	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040157.1		+	ENST00000359465.4	Missense_Mutation	SNP	6 : 27782982 - 27782982 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	802	7
HSPB9	94086	broad.mit.edu	37	17	40275109	40275109	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:40275109G>A	ENST00000355067.3	+	1	354	c.241G>A	c.(241-243)Gga>Aga	p.G81R	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	81					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GATGGTGACCGGACAGCAGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	103	107			NA	NA	17		NA											NA				40275109		2203	4300	6503	SO:0001583	missense			AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325	94086	94086		Heat shock proteins / HSPB	30589	protein-coding gene	gene with protein product	cancer/testis antigen 51	608344			NA	11470154, 12820654	Standard	NM_033194	NM_033194	NA	Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.241G>A	17.37:g.40275109G>A	ENSP00000347178:p.Gly81Arg	NA	B3KSG6|Q52LB4	37	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174878	0.57692	.	.	ENSG00000197723	ENST00000355067	D	0.95622	-3.76	3.68	-0.645	0.11475	Heat shock protein Hsp20 (2);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.84511	2.7	0.31280	N	0.690707	P	0.43352	0.804	B	0.37144	0.242	D	0.89203	0.3559	10	0.87932	D	0	-18.9973	4.7991	0.13287	0.2826:0.1571:0.5603:0.0	.	81	Q9BQS6	HSPB9_HUMAN	R	81	ENSP00000347178:G81R	ENSP00000347178:G81R	G	+	1	0	HSPB9	37528635	0.976000	0.34144	0.716000	0.30569	0.009000	0.06853	2.377000	0.44300	-0.047000	0.13423	-1.157000	0.01802	GGA	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257438.1		+	ENST00000355067.3	Missense_Mutation	SNP	17 : 40275109 - 40275109 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	534	6
IL36G	56300	broad.mit.edu	37	2	113742456	113742456	+	Missense_Mutation	SNP	G	G	A	rs149685371		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113742456G>A	ENST00000259205.4	+	5	409	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	IL36G_ENST00000376489.2_Missense_Mutation_p.V79M	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	114					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCCGAGCCCGTGAAACCCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	0,4406		0,0,2203	142	130	134		340	0.8	0	2	dbSNP_134	134	3,8597	3.0+/-9.4	0,3,4297	yes	missense	IL36G	NM_019618.2	21	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign	114/170	113742456	3,13003	2203	4300	6503	SO:0001583	missense			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688	56300	56300		Interleukins and interleukin receptors	15741	protein-coding gene	gene with protein product	interleukin-1 homolog 1, interleukin 1-related protein 2, interleukin-1 epsilon	605542	interleukin 1 family, member 9	IL1F9	NA	10860666, 10744718, 11991722, 11991723	Standard	NM_019618	NM_019618	NA	Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.340G>A	2.37:g.113742456G>A	ENSP00000259205:p.Val114Met	NA	Q56B91|Q6UVX7|Q7RTZ9	37	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117400	0.08881	0.0	3.49E-4	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.16897	2.31;2.31	4.7	0.812	0.18744	.	0.366054	0.23536	N	0.047135	T	0.07638	0.0192	N	0.17248	0.465	0.09310	N	1	P;P	0.42357	0.777;0.769	B;B	0.36186	0.1;0.219	T	0.33007	-0.9885	10	0.27082	T	0.32	-15.0817	6.9685	0.24637	0.3978:0.0:0.6022:0.0	.	79;114	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	M	79;114	ENSP00000365672:V79M;ENSP00000259205:V114M	ENSP00000259205:V114M	V	+	1	0	IL36G	113458927	0.315000	0.24571	0.016000	0.15963	0.004000	0.04260	0.340000	0.19892	0.032000	0.15435	-0.254000	0.11334	GTG	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330713.2		+	ENST00000259205.4	Missense_Mutation	SNP	2 : 113742456 - 113742456 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	547	5
KCNB2	9312	broad.mit.edu	37	8	73849840	73849840	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:73849840G>A	ENST00000523207.1	+	3	2838	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	750					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTACCCCGCAGCACATCAGTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	111	108			NA	NA	8		NA											NA				73849840		2203	4300	6503	SO:0001819	synonymous_variant			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2250G>A	8.37:g.73849840G>A		NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1																																																																																			KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Silent	SNP	8 : 73849840 - 73849840 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	875	7
KCNJ11	3767	broad.mit.edu	37	11	17408690	17408690	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:17408690G>A	ENST00000339994.4	-	1	1516	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	230						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GCTACAATGGGCACAAAGCGC	0.607		NA									OREG0020810	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													151	131	138			NA	NA	11		NA											NA				17408690		2200	4293	6493	SO:0001583	missense			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05					3767	3767		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6257	protein-coding gene	gene with protein product		600937			NA	7502040, 16382105	Standard	NM_000525	NM_001166290	NA	Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.949C>T	11.37:g.17408690G>A	ENSP00000345708:p.Pro317Ser	717		37	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227133	0.39399	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.91996	-2.95;-2.95	5.43	5.43	0.79202	.	0.055715	0.64402	D	0.000001	D	0.89283	0.6671	L	0.47078	1.49	0.58432	D	0.999999	P	0.34977	0.478	B	0.30646	0.118	D	0.87963	0.2731	10	0.38643	T	0.18	.	19.2428	0.93891	0.0:0.0:1.0:0.0	.	317	B2RC52	.	S	317;230	ENSP00000345708:P317S;ENSP00000434755:P230S	ENSP00000345708:P317S	P	-	1	0	KCNJ11	17365266	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	8.062000	0.89475	2.548000	0.85928	0.561000	0.74099	CCC	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387037.1		-	ENST00000339994.4	Missense_Mutation	SNP	11 : 17408690 - 17408690 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	496	5
KIAA0355	9710	broad.mit.edu	37	19	34832943	34832943	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:34832943G>T	ENST00000299505.6	+	10	2977	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	702										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCACCACGGGCACCCCAGGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	19		NA											NA				34832943		2203	4300	6503	SO:0001583	missense				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398	9710	9710			29016	protein-coding gene	gene with protein product					NA	9205841	Standard	NM_014686	NM_014686	NA	Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2104G>T	19.37:g.34832943G>T	ENSP00000299505:p.Ala702Ser	NA	Q2M3W4	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742098	0.30865	.	.	ENSG00000166398	ENST00000299505	T	0.20463	2.07	5.21	3.03	0.35002	.	0.227351	0.35262	N	0.003338	T	0.12689	0.0308	N	0.08118	0	0.21416	N	0.999696	B	0.11235	0.004	B	0.16289	0.015	T	0.26189	-1.0110	10	0.87932	D	0	-24.5999	15.1737	0.72894	0.0:0.7283:0.2717:0.0	.	702	O15063	K0355_HUMAN	S	702	ENSP00000299505:A702S	ENSP00000299505:A702S	A	+	1	0	KIAA0355	39524783	0.134000	0.22483	0.405000	0.26409	0.928000	0.56348	0.848000	0.27710	0.697000	0.31718	-0.147000	0.13772	GCA	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451678.4		+	ENST00000299505.6	Missense_Mutation	SNP	19 : 34832943 - 34832943 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	402	82
KIAA1432	0	broad.mit.edu	37	9	5720313	5720313	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:5720313A>G	ENST00000414202.2	+	5	763	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		191						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTAGACCTGCAGTCATCTAGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	203	204			NA	NA	9		NA											NA				5720313		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000414202.2:c.572A>G	9.37:g.5720313A>G	ENSP00000416696:p.Gln191Arg	NA	Q4VXJ8|Q4VXJ9|Q76MT5|Q8N6E0|Q8TEH4|Q9H0A5|Q9H9S1	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316285	0.60524	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T	0.70282	-0.47;-0.47;-0.47	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.55990	1.75	0.58432	D	0.999999	P;B;P	0.39665	0.682;0.103;0.634	B;B;B	0.36766	0.154;0.034;0.232	T	0.63171	-0.6697	10	0.16896	T	0.51	-13.9966	16.1502	0.81611	1.0:0.0:0.0:0.0	.	112;191;191	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	R	191;191;112;112;112	ENSP00000370943:Q112R;ENSP00000402240:Q112R;ENSP00000398823:Q112R	ENSP00000251879:Q191R	Q	+	2	0	KIAA1432	5710313	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.057000	0.89457	2.203000	0.70933	0.460000	0.39030	CAG	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051636.3		+	ENST00000414202.2	Missense_Mutation	SNP	9 : 5720313 - 5720313 G PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	816	200
KLK13	26085	broad.mit.edu	37	19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	191	198			NA	NA	19		NA											NA				51561829		2203	4300	6503	SO:0001583	missense				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759	26085	26085		Kallikreins	6361	protein-coding gene	gene with protein product		605505	kallikrein 13		NA	16800724, 16800723	Standard	NM_015596	NM_015596	NA	Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.611C>T	19.37:g.51561829G>A	ENSP00000470555:p.Ala204Val	NA	A7UNK6|Q9Y433	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960577	0.53400	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.94966	-3.57	4.8	3.77	0.43336	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000229	D	0.96654	0.8908	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.97110	1.0;0.895;0.999	D	0.95529	0.8601	10	0.32370	T	0.25	.	11.0896	0.48108	0.0906:0.0:0.9094:0.0	.	52;131;204	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	V	204;52	ENSP00000334079:A52V	ENSP00000156476:A204V	A	-	2	0	KLK13	56253641	1.000000	0.71417	0.890000	0.34922	0.139000	0.21198	5.936000	0.70153	1.393000	0.46605	-0.136000	0.14681	GCC	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464298.2		-	ENST00000595793.1	Missense_Mutation	SNP	19 : 51561829 - 51561829 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	870	8
KMT2B	9757	broad.mit.edu	37	19	36221301	36221301	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:36221301G>A	ENST00000420124.1	+	24	5135	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.G1712D					lysine (K)-specific methyltransferase 2B	NA											NA						GACTTCGAGGGCATCAACTTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	290	285			NA	NA	19		NA											NA				36221301		2090	4218	6308	SO:0001583	missense			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333	9757	9757		Chromatin-modifying enzymes / K-methyltransferases	15840	protein-coding gene	gene with protein product	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4	606834			NA	10409430, 10637508	Standard	NM_014727	XM_006723513	NA	Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000420124.1:c.5135G>A	19.37:g.36221301G>A	ENSP00000398837:p.Gly1712Asp	NA		37		.	.	.	.	.	.	.	.	.	.	G	19.39	3.818990	0.71028	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85556	-2.0;-2.0	5.42	5.42	0.78866	.	0.000000	0.45867	D	0.000337	D	0.89996	0.6877	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89140	0.3516	10	0.41790	T	0.15	.	17.9877	0.89159	0.0:0.0:1.0:0.0	.	1712	Q9UMN6	MLL4_HUMAN	D	1712	ENSP00000222270:G1712D;ENSP00000398837:G1712D	ENSP00000222270:G1712D	G	+	2	0	AD000671.1	40913141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.762000	0.98944	2.551000	0.86045	0.563000	0.77884	GGC	KMT2B-203	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000420124.1	Missense_Mutation	SNP	19 : 36221301 - 36221301 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	1527	8
KRAS	3845	broad.mit.edu	37	12	25398282	25398282	+	Missense_Mutation	SNP	C	C	A	rs121913535		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:25398282C>A	ENST00000311936.3	-	2	228	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	KRAS_ENST00000557334.1_Missense_Mutation_p.G13C|KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000256078.4_Missense_Mutation_p.G13C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TTGCCTACGCCACCAGCTCCA	0.343	G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	321	Substitution - Missense(317)|Insertion - In frame(4)	large_intestine(126)|lung(111)|stomach(14)|thyroid(13)|biliary_tract(13)|endometrium(9)|ovary(8)|haematopoietic_and_lymphoid_tissue(5)|pancreas(5)|soft_tissue(4)|upper_aerodigestive_tract(4)|prostate(3)|oesophagus(2)|urinary_tract(1)|salivary_gland(1)|thymus(1)|liver(1)											89	79	83			NA	NA	12		NA											NA				25398282		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.37G>T	12.37:g.25398282C>A	ENSP00000308495:p.Gly13Cys	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686065	0.88639	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.83755	-1.76;-0.81;-0.81;-0.81	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	D	0.93619	0.6946	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	C	13	ENSP00000308495:G13C;ENSP00000452512:G13C;ENSP00000256078:G13C;ENSP00000451856:G13C	ENSP00000256078:G13C	G	-	1	0	KRAS	25289549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398282 - 25398282 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	115	16
KRAS	3845	broad.mit.edu	37	12	25398283	25398283	+	Silent	SNP	A	A	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:25398283A>G	ENST00000311936.3	-	2	227	c.36T>C	c.(34-36)ggT>ggC	p.G12G	KRAS_ENST00000557334.1_Silent_p.G12G|KRAS_ENST00000556131.1_Silent_p.G12G|KRAS_ENST00000256078.4_Silent_p.G12G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12G(9)|p.G12V(5)|p.G12E(3)|p.G12W(3)|p.G12_G13insG(3)|p.G12D(2)|p.G12C(1)|p.G13C(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGCCTACGCCACCAGCTCCAA	0.348		119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	28	Substitution - Missense(15)|Substitution - coding silent(9)|Insertion - In frame(4)	large_intestine(14)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|pancreas(3)|soft_tissue(1)											91	81	84			NA	NA	12		NA											NA				25398283		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.36T>C	12.37:g.25398283A>G		NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1																																																																																			KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Silent	SNP	12 : 25398283 - 25398283 G PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	116	16
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>C	12.37:g.25398284C>G	ENSP00000308495:p.Gly12Ala	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 G PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	115	15
LCE1A	353131	broad.mit.edu	37	1	152800035	152800035	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152800035C>T	ENST00000335123.2	+	1	87	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	29	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcctaagtgccccccaaagt	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	65	63			NA	NA	1		NA											NA				152800035		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844	353131	353131		Late cornified envelopes	29459	protein-coding gene	gene with protein product		612603			NA	11698679	Standard	NM_178348	NM_178348	NA	Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.87C>T	1.37:g.152800035C>T		NA		37	CCDS1028.1																																																																																			LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034660.2		+	ENST00000335123.2	Silent	SNP	1 : 152800035 - 152800035 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	542	6
LMAN1L	79748	broad.mit.edu	37	15	75109005	75109005	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:75109005C>T	ENST00000309664.5	+	4	610	c.471C>T	c.(469-471)gaC>gaT	p.D157D	LMAN1L_ENST00000379709.3_Silent_p.D157D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	157	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCAGCGACGGGCACATCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	63	64			NA	NA	15		NA											NA				75109005		2197	4296	6493	SO:0001819	synonymous_variant			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506	79748	79748			6632	protein-coding gene	gene with protein product		609548			NA	11255007	Standard		NM_021819	NA	Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.471C>T	15.37:g.75109005C>T		NA	Q6UWN2	37	CCDS10270.1																																																																																			LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286397.4		+	ENST00000309664.5	Silent	SNP	15 : 75109005 - 75109005 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	282	62
LNX2	222484	broad.mit.edu	37	13	28136823	28136823	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:28136823C>G	ENST00000316334.3	-	5	1080	c.951G>C	c.(949-951)gaG>gaC	p.E317D		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	317	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAAAGCGCCTCTCTCGAAGCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	118	120			NA	NA	13		NA											NA				28136823		2203	4300	6503	SO:0001583	missense			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517	NA	222484		RING-type (C3HC4) zinc fingers	20421	protein-coding gene	gene with protein product		609733	PDZ domain containing ring finger 1	PDZRN1	NA		Standard		NM_153371	NA	Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.951G>C	13.37:g.28136823C>G	ENSP00000325929:p.Glu317Asp	NA	Q5W0P0|Q6ZMH2|Q96SH4	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922741	0.92319	.	.	ENSG00000139517	ENST00000316334	T	0.27890	1.64	5.88	5.04	0.67666	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.16070	-1.0415	10	0.32370	T	0.25	.	14.8997	0.70670	0.0:0.9315:0.0:0.0685	.	317	Q8N448	LNX2_HUMAN	D	317	ENSP00000325929:E317D	ENSP00000325929:E317D	E	-	3	2	LNX2	27034823	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	3.788000	0.55446	1.480000	0.48289	0.655000	0.94253	GAG	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044302.2		-	ENST00000316334.3	Missense_Mutation	SNP	13 : 28136823 - 28136823 G PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	386	84
MAGEB6	158809	broad.mit.edu	37	X	26213152	26213152	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:26213152G>C	ENST00000379034.1	+	2	1338	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	397										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCTTTGATAGATGAGGTAGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	111	114			NA	NA	X		NA											NA				26213152		2202	4300	6502	SO:0001583	missense			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746	158809	158809			23796	protein-coding gene	gene with protein product	cancer/testis antigen family 3, member 4	300467			NA	10861452	Standard	NM_173523	NM_173523	NA	Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1189G>C	X.37:g.26213152G>C	ENSP00000368320:p.Asp397His	NA	Q6GS19|Q9H219	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906303	0.33628	.	.	ENSG00000176746	ENST00000379034	T	0.02837	4.14	3.29	2.4	0.29515	.	0.345998	0.25771	U	0.028418	T	0.12347	0.0300	M	0.83012	2.62	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.02860	-1.1101	10	0.87932	D	0	.	6.0678	0.19873	0.1475:0.0:0.8525:0.0	.	397	Q8N7X4	MAGB6_HUMAN	H	397	ENSP00000368320:D397H	ENSP00000368320:D397H	D	+	1	0	MAGEB6	26123073	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	1.154000	0.31688	0.742000	0.32697	0.594000	0.82650	GAT	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056123.1		+	ENST00000379034.1	Missense_Mutation	SNP	X : 26213152 - 26213152 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	420	217
MANEAL	149175	broad.mit.edu	37	1	38265867	38265867	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:38265867C>T	ENST00000373045.6	+	4	1747	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	456						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCAGTGGCTCATGTGAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	1		NA											NA				38265867		2196	4289	6485	SO:0001583	missense			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090	149175	149175			26452	protein-coding gene	gene with protein product					NA		Standard	NM_152496	NM_152496	NA	Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1366C>T	1.37:g.38265867C>T	ENSP00000362136:p.Leu456Phe	NA	Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	37	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824681	0.71143	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	4.51	0.55191	.	0.063428	0.64402	D	0.000006	T	0.68284	0.2984	M	0.65975	2.015	0.51767	D	0.999932	D;D	0.64830	0.962;0.994	P;P	0.59889	0.528;0.865	T	0.70414	-0.4878	9	0.62326	D	0.03	-8.2914	11.3578	0.49625	0.0:0.8696:0.0:0.1304	.	234;456	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	F	456;262;234	.	ENSP00000328770:L234F	L	+	1	0	MANEAL	38038454	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.014000	0.49590	2.662000	0.90505	0.655000	0.94253	CTC	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012469.2		+	ENST00000373045.6	Missense_Mutation	SNP	1 : 38265867 - 38265867 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	343	41
MARS2	92935	broad.mit.edu	37	2	198570923	198570923	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:198570923G>A	ENST00000282276.6	+	1	837	c.794G>A	c.(793-795)gGc>gAc	p.G265D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	265					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTGCACTGGGGCATTCCGGTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	63	63			NA	NA	2		NA											NA				198570923		2203	4300	6503	SO:0001583	missense			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	92935	92935	6.1.1.10	Aminoacyl tRNA synthetases / Class I	25133	protein-coding gene	gene with protein product	methionine tRNA ligase 2, mitochondrial	609728			NA	15274629	Standard	NM_138395	NM_138395	NA	Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.794G>A	2.37:g.198570923G>A	ENSP00000282276:p.Gly265Asp	NA	A0AVC3|Q76E79|Q8IW62|Q8N7N4	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782869	0.90282	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.71579	-0.58	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class I (M) (1);	0.000000	0.85682	D	0.000000	D	0.91068	0.7189	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94224	0.7470	10	0.87932	D	0	-17.4385	17.5664	0.87921	0.0:0.0:1.0:0.0	.	265	Q96GW9	SYMM_HUMAN	D	265;192	ENSP00000282276:G265D	ENSP00000282276:G265D	G	+	2	0	MARS2	198279168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.746000	0.98859	2.738000	0.93877	0.655000	0.94253	GGC	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335477.1		+	ENST00000282276.6	Missense_Mutation	SNP	2 : 198570923 - 198570923 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	402	5
MAS1L	116511	broad.mit.edu	37	6	29455344	29455344	+	Silent	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:29455344G>T	ENST00000377127.3	-	1	394	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	112						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCAGGTGGAGGATGTATACCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(153;755 1987 3859 11251 32945)							NA				0													72	67	69			NA	NA	6		NA											NA				29455344		2203	4300	6503	SO:0001819	synonymous_variant			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687	116511	116511		GPCR / Class A : Orphans	13961	protein-coding gene	gene with protein product		607235	MAS1 oncogene-like		NA		Standard	NM_052967	NM_052967	NA	Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.336C>A	6.37:g.29455344G>T		NA		37	CCDS4661.1																																																																																			MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076126.2		-	ENST00000377127.3	Silent	SNP	6 : 29455344 - 29455344 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	289	75
MBIP	51562	broad.mit.edu	37	14	36783734	36783735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:36783734_36783735insT	ENST00000416007.4	-	4	641_642	c.554_555insA	c.(553-555)gttfs	p.V185fs	MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000359527.7_Frame_Shift_Ins_p.V185fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	185	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TACAATCAATAACATTGCAAAA	0.277		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			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332	51562	51562			20427	protein-coding gene	gene with protein product		609431			NA	10801814	Standard	NM_016586	NM_016586	NA	Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.554_555insA	14.37:g.36783734_36783735insT	ENSP00000399718:p.Val185fs	NA	Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	37	CCDS9658.1																																																																																			MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276685.2		-	ENST00000416007.4	Frame_Shift_Ins	INS	14 : 36783734 - 36783735 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	115	26
MEN1	4221	broad.mit.edu	37	11	64577300	64577300	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:64577300G>A	ENST00000377316.2	-	1	657	c.282C>T	c.(280-282)acC>acT	p.T94T	MEN1_ENST00000443283.1_Silent_p.T94T|MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000337652.1_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T			O00255	MEN1_HUMAN	multiple endocrine neoplasia I	94			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A95fs*24(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGATCTGGGCGGTGAAGCGGG	0.647		NA	D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Deletion - Frameshift(1)	pancreas(1)											33	38	36			NA	NA	11		NA											NA				64577300		2201	4297	6498	SO:0001819	synonymous_variant	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895	NA	4221			7010	protein-coding gene	gene with protein product	menin	613733			NA		Standard		NM_130799	NA	Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000377316.2:c.282C>T	11.37:g.64577300G>A		NA	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	37																																																																																				MEN1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000143886.6		-	ENST00000377316.2	Silent	SNP	11 : 64577300 - 64577300 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	154	4
MRC1L1	0	broad.mit.edu	37	10	17949700	17949700	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:17949700G>C	ENST00000331429.2	+	28	4167	c.4064G>C	c.(4063-4065)tGt>tCt	p.C1355S							NA										breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATATATTTGTAAAAGACCA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	180	176			NA	NA	10		NA											NA				17949700		2183	4286	6469	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000331429.2:c.4064G>C	10.37:g.17949700G>C	ENSP00000332124:p.Cys1355Ser	NA		37		.	.	.	.	.	.	.	.	.	.	.	18.38	3.612124	0.66672	.	.	ENSG00000183748	ENST00000331429	D	0.97688	-4.49	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000012	D	0.98654	0.9549	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99797	1.1034	8	0.87932	D	0	-10.5846	16.4284	0.83832	0.0:0.0:1.0:0.0	.	1355	B9EJA8	.	S	1355	ENSP00000332124:C1355S	ENSP00000332124:C1355S	C	+	2	0	AL928580.1	17989706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.223000	0.78033	2.086000	0.62901	0.508000	0.49915	TGT	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000047054.1		+	ENST00000331429.2	Missense_Mutation	SNP	10 : 17949700 - 17949700 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	610	23
MYH4	4622	broad.mit.edu	37	17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	181	186			NA	NA	17		NA											NA				10363351		2203	4300	6503	SO:0001583	missense				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1334G>A	17.37:g.10363351C>T	ENSP00000255381:p.Arg445His	NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456265	0.96223	.	.	ENSG00000141048	ENST00000255381	D	0.88741	-2.42	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.000000	0.38272	U	0.001758	D	0.95639	0.8582	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.96124	0.9087	10	0.87932	D	0	.	19.3946	0.94601	0.0:1.0:0.0:0.0	.	445	Q9Y623	MYH4_HUMAN	H	445	ENSP00000255381:R445H	ENSP00000255381:R445H	R	-	2	0	MYH4	10304076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.669000	0.90835	0.650000	0.86243	CGC	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Missense_Mutation	SNP	17 : 10363351 - 10363351 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	537	5
NANOG	79923	broad.mit.edu	37	12	7945647	7945647	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7945647G>A	ENST00000229307.4	+	2	472	c.253G>A	c.(253-255)Gca>Aca	p.A85T	NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	85					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GAAGAGTGTCGCAAAAAAGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	61	64			NA	NA	12		NA											NA				7945647		2202	4292	6494	SO:0001583	missense			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704	79923	79923		Homeoboxes / ANTP class : NKL subclass	20857	protein-coding gene	gene with protein product		607937			NA	12787505, 12787504	Standard	NM_024865	XM_005253484	NA	Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.253G>A	12.37:g.7945647G>A	ENSP00000229307:p.Ala85Thr	NA	D3DUU4|Q2TTG0|Q6JZS5	37	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	0.035	-1.311903	0.01342	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91237	-2.81;-2.81;-2.78	4.1	0.704	0.18121	Homeodomain-related (1);	3.012810	0.00789	N	0.001330	T	0.81230	0.4779	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68534	-0.5383	10	0.13108	T	0.6	1.3277	8.8453	0.35166	0.3408:0.0:0.6592:0.0	.	85	Q9H9S0	NANOG_HUMAN	T	61;85;85	ENSP00000444434:A61T;ENSP00000229307:A85T;ENSP00000435288:A85T	ENSP00000229307:A85T	A	+	1	0	NANOG	7836914	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.200000	0.17257	-0.023000	0.13963	-1.749000	0.00680	GCA	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387480.2		+	ENST00000229307.4	Missense_Mutation	SNP	12 : 7945647 - 7945647 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	415	6
NCAPH	23397	broad.mit.edu	37	2	97033078	97033078	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:97033078G>A	ENST00000455200.1	+	15	2227	c.1932G>A	c.(1930-1932)ctG>ctA	p.L644L	NCAPH_ENST00000427946.1_Silent_p.L519L|NCAPH_ENST00000240423.4_Silent_p.L655L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	655					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGAGTCTGCTGACAGCGCTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	85			NA	NA	2		NA											NA				97033078		2203	4300	6503	SO:0001819	synonymous_variant			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152	23397	23397			1112	protein-coding gene	gene with protein product		602332	barren (Drosophila) homolog, barren homolog (Drosophila), barren homolog 1 (Drosophila)	BRRN1	NA	9417923	Standard	NM_015341	NM_015341	NA	Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000455200.1:c.1932G>A	2.37:g.97033078G>A		NA	Q8TB87	37		.	.	.	.	.	.	.	.	.	.	G	4.855	0.158883	0.09236	.	.	ENSG00000121152	ENST00000435349	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60895	-0.7172	4	.	.	.	-11.9218	11.4063	0.49900	0.0812:0.0:0.9188:0.0	.	.	.	.	N	96	.	.	D	+	1	0	NCAPH	96396805	1.000000	0.71417	0.995000	0.50966	0.514000	0.34195	2.854000	0.48325	2.890000	0.99128	0.650000	0.86243	GAC	NCAPH-005	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338875.1		+	ENST00000455200.1	Silent	SNP	2 : 97033078 - 97033078 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	390	19
NCOA6	23054	broad.mit.edu	37	20	33345146	33345146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:33345146G>A	ENST00000374796.2	-	8	3975	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	469	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGACAGGCTGCTGAAATCCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	121	120			NA	NA	20		NA											NA				33345146		2203	4300	6503	SO:0001587	stop_gained			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646	23054	23054			15936	protein-coding gene	gene with protein product	nuclear receptor coactivator RAP250, activating signal cointegrator-2, peroxisome proliferator-activated receptor interacting protein	605299			NA	8724849, 8263591	Standard	NM_014071	NM_014071	NA	Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1405C>T	20.37:g.33345146G>A	ENSP00000363929:p.Gln469*	NA	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	55	23.676371	0.99956	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.9148	19.8745	0.96864	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000351894:Q469X	Q	-	1	0	NCOA6	32808807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.229000	0.95273	2.704000	0.92352	0.467000	0.42956	CAG	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078811.2		-	ENST00000374796.2	Nonsense_Mutation	SNP	20 : 33345146 - 33345146 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	471	159
NOP16	51491	broad.mit.edu	37	5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:175815524C>T	ENST00000510123.1	-	1	239	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000389158.5_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D|NOP16_ENST00000509257.1_Missense_Mutation_p.G6D	NM_001256539.1|NM_001256540.1|NM_016391.5	NP_001243468.1|NP_001243469.1|NP_057475.2	Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/GLY	0,4344		0,0,2172	60	67	65		17	5.6	1	5		65	1,8577		0,1,4288	no	missense	NOP16	NM_016391.4	94	0,1,6460	TT,TC,CC	NA	0.0117,0.0,0.0077	probably-damaging	6/179	175815524	1,12921	2172	4289	6461	SO:0001583	missense				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162	51491	51491			26934	protein-coding gene	gene with protein product	hypothetical protein HSPC111, HBV pre-S2 trans-regulated protein 3	612861	nucleolar protein 16 homolog (yeast), NOP16 nucleolar protein homolog (yeast)		NA	10810093, 11042152	Standard	NM_016391	NM_001291308	NA	Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000510123.1:c.17G>A	5.37:g.175815524C>T	ENSP00000421302:p.Gly6Asp	NA	Q6IAI6|Q8IXL5	37	CCDS58991.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532671	0.85812	0.0	1.17E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000507413;ENST00000451293;ENST00000509257	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.67050	0.2852	L	0.47716	1.5	0.40902	D	0.984165	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.988;0.999;0.999	T	0.61579	-0.7034	8	0.25751	T	0.34	.	12.1692	0.54148	0.0:0.9225:0.0:0.0775	.	6;6;6;6	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	D	6	.	ENSP00000373810:G6D	G	-	2	0	NOP16	175748130	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.518000	0.45537	2.894000	0.99253	0.655000	0.94253	GGC	NOP16-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371964.2		-	ENST00000510123.1	Missense_Mutation	SNP	5 : 175815524 - 175815524 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	548	6
NR1H3	10062	broad.mit.edu	37	11	47281348	47281348	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:47281348C>T	ENST00000467728.1	+	2	1288	c.50C>T	c.(49-51)gCg>gTg	p.A17V	NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000405576.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	17					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCAGACTCTGCGGTGGAGCTG	0.632		NA									OREG0020956	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													37	37	37			NA	NA	11		NA											NA				47281348		2201	4297	6498	SO:0001583	missense			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434	10062	10062		Nuclear hormone receptors	7966	protein-coding gene	gene with protein product	liver X receptor-alpha	602423			NA	8621574, 7744246	Standard		NM_005693	NA	Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.50C>T	11.37:g.47281348C>T	ENSP00000420656:p.Ala17Val	945	A8K3J9|D3DQR1|Q96H87	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	4.490	0.090832	0.08632	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.66	1.22	0.21188	.	0.815641	0.10624	N	0.652953	T	0.25005	0.0607	N	0.14661	0.345	0.28499	N	0.914104	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.0;0.0;0.003	T	0.21759	-1.0236	10	0.30078	T	0.28	.	9.8669	0.41150	0.0:0.8063:0.0:0.1937	.	23;17;17	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	V	17	ENSP00000403798:A17V;ENSP00000385801:A17V;ENSP00000391005:A17V;ENSP00000413095:A17V;ENSP00000415591:A17V;ENSP00000387946:A17V;ENSP00000396132:A17V;ENSP00000403696:A17V;ENSP00000420656:A17V;ENSP00000384745:A17V	ENSP00000384745:A17V	A	+	2	0	NR1H3	47237924	0.723000	0.28027	0.131000	0.22000	0.025000	0.11179	1.163000	0.31798	0.341000	0.23771	0.462000	0.41574	GCG	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319214.3		+	ENST00000467728.1	Missense_Mutation	SNP	11 : 47281348 - 47281348 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	333	5
OBSCN	84033	broad.mit.edu	37	1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:228480445G>A	ENST00000570156.2	+	45	12186	c.12112G>A	c.(12112-12114)Gtg>Atg	p.V4038M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3609M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3079	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACTCGTGCGTGTGCGGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL	1,4289		0,1,2144	120	122	121		10825,10825	1.5	0	1		121	1,8483		0,1,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6385	AA,AG,GG	NA	0.0118,0.0233,0.0157	benign,benign	3609/7969,3609/6621	228480445	2,12772	2145	4242	6387	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.12112G>A	1.37:g.228480445G>A	ENSP00000455507:p.Val4038Met	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499541	0.44455	2.33E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.38	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167348	0.41097	N	0.000958	T	0.68348	0.2991	M	0.81112	2.525	0.22266	N	0.999248	P;P	0.48407	0.91;0.89	P;P	0.46585	0.521;0.454	T	0.60860	-0.7179	10	0.33940	T	0.23	.	10.045	0.42182	0.2732:0.0:0.7268:0.0	.	3609;3609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	3609;3609;728;728;2456	ENSP00000284548:V3609M;ENSP00000409493:V3609M;ENSP00000355668:V728M;ENSP00000355670:V728M;ENSP00000352613:V2456M	ENSP00000284548:V3609M	V	+	1	0	OBSCN	226547068	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.104000	0.10923	0.017000	0.15025	0.561000	0.74099	GTG	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228480445 - 228480445 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	692	159
P2RX7	5027	broad.mit.edu	37	12	121592733	121592733	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:121592733G>A	ENST00000546057.1	+	2	414	c.271G>A	c.(271-273)Gca>Aca	p.A91T	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR	NM_002562.5	NP_002553	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	91						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTTGACACCGCAGACTACAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	172	199			NA	NA	12		NA											NA				121592733		2203	4300	6503	SO:0001583	missense			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041	5027	5027		Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic	8537	protein-coding gene	gene with protein product		602566			NA	9038151, 9826911	Standard	NM_002562	NM_002562	NA	Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.271G>A	12.37:g.121592733G>A	ENSP00000442349:p.Ala91Thr	NA		37	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377781	0.61735	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.05649	3.41;3.41	5.49	5.49	0.81192	.	0.297398	0.28883	N	0.013825	T	0.27278	0.0669	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00653	-1.1625	10	0.87932	D	0	.	14.8617	0.70387	0.0:0.0:1.0:0.0	.	91	Q99572	P2RX7_HUMAN	T	91	ENSP00000442349:A91T;ENSP00000366367:A91T	ENSP00000261826:A91T	A	+	1	0	P2RX7	120077116	0.941000	0.31946	0.230000	0.23976	0.265000	0.26407	4.960000	0.63673	2.578000	0.87016	0.591000	0.81541	GCA	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402532.1		+	ENST00000546057.1	Missense_Mutation	SNP	12 : 121592733 - 121592733 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	403	5
PARP9	83666	broad.mit.edu	37	3	122274267	122274267	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:122274267C>A	ENST00000462315.1	-	4	1044	c.751G>T	c.(751-753)Gct>Tct	p.A251S	PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000360356.2_Missense_Mutation_p.A286S|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	286	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTAAAGGCAGCAACAGTAGGG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	166	167			NA	NA	3		NA											NA				122274267		2203	4300	6503	SO:0001583	missense			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496	83666	83666		Poly (ADP-ribose) polymerases	24118	protein-coding gene	gene with protein product		612065			NA	11110709	Standard	NM_031458	NM_031458	NA	Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000462315.1:c.751G>T	3.37:g.122274267C>A	ENSP00000418894:p.Ala251Ser	NA	A8KA94|B2R8S9|Q8TCP3|Q9BZL8|Q9BZL9	37	CCDS54633.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746139	0.49151	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.38	4.37	0.52481	Appr-1-p processing (1);	0.787865	0.11079	N	0.601994	T	0.23965	0.0580	L	0.58428	1.81	0.28693	N	0.904515	B;P;P	0.46395	0.094;0.877;0.835	B;B;P	0.45794	0.056;0.339;0.493	T	0.05241	-1.0897	10	0.15499	T	0.54	.	7.7777	0.29048	0.0:0.7824:0.0:0.2176	.	251;286;251	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	S	286;251;251;209;251	ENSP00000353512:A286S;ENSP00000419506:A251S;ENSP00000419001:A251S;ENSP00000418894:A251S	ENSP00000353512:A286S	A	-	1	0	PARP9	123756957	0.010000	0.17322	0.992000	0.48379	0.940000	0.58332	0.631000	0.24568	1.254000	0.44035	0.655000	0.94253	GCT	PARP9-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355959.1		-	ENST00000462315.1	Missense_Mutation	SNP	3 : 122274267 - 122274267 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	807	193
PBXIP1	57326	broad.mit.edu	37	1	154918319	154918319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:154918319G>A	ENST00000368463.3	-	10	1902	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	611					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTGTTGCCGCACTGGGGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	54	54			NA	NA	1		NA											NA				154918319		2203	4300	6503	SO:0001583	missense			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346	57326	57326			21199	protein-coding gene	gene with protein product			pre-B-cell leukemia transcription factor interacting protein 1		NA	7505766, 10825160	Standard	NM_020524	NM_020524	NA	Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1831C>T	1.37:g.154918319G>A	ENSP00000357448:p.Arg611Trp	NA	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303611	0.60305	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.32;2.34;2.38;2.36	4.72	3.79	0.43588	.	0.612341	0.15264	N	0.271642	T	0.23289	0.0563	M	0.62723	1.935	0.30294	N	0.790065	D	0.89917	1.0	D	0.66196	0.942	T	0.03121	-1.1070	10	0.87932	D	0	-17.2576	11.8382	0.52338	0.0:0.0:0.8238:0.1762	.	611	Q96AQ6	PBIP1_HUMAN	W	582;611;438;387;456	ENSP00000357450:R582W;ENSP00000357448:R611W;ENSP00000440142:R438W;ENSP00000438584:R456W	ENSP00000357448:R611W	R	-	1	2	PBXIP1	153184943	0.564000	0.26602	0.999000	0.59377	0.959000	0.62525	1.282000	0.33226	1.157000	0.42530	0.462000	0.41574	CGG	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090943.1		-	ENST00000368463.3	Missense_Mutation	SNP	1 : 154918319 - 154918319 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	430	5
PCDHA10	56139	broad.mit.edu	37	5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1			protocadherin alpha 10	NA										NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	55	53			NA	NA	5		NA											NA				140235770		2196	4269	6465	SO:0001583	missense			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120	56139	56139		Cadherins / Protocadherins : Clustered	8664	other	complex locus constituent	KIAA0345-like 4, ortholog to mouse CNR8	606316		CNRS8	NA	10380929	Standard	NM_018901	NM_018901	NA	Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.137G>A	5.37:g.140235770G>A	ENSP00000304234:p.Arg46His	NA		37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373889	0.42105	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.27256	1.68;1.68	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27765	0.0683	M	0.69185	2.1	0.21675	N	0.999599	P;P;P	0.52692	0.955;0.848;0.468	B;B;B	0.41332	0.354;0.282;0.097	T	0.27226	-1.0080	9	0.59425	D	0.04	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	46;46;46	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	H	46	ENSP00000421030:R46H;ENSP00000304234:R46H	ENSP00000304234:R46H	R	+	2	0	PCDHA10	140215954	0.013000	0.17824	1.000000	0.80357	0.890000	0.51754	2.142000	0.42177	2.391000	0.81399	0.556000	0.70494	CGC	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372895.2		+	ENST00000307360.5	Missense_Mutation	SNP	5 : 140235770 - 140235770 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	608	5
PCDHA9	9752	broad.mit.edu	37	5	140229343	140229343	+	Nonsense_Mutation	SNP	C	C	A	rs150560525	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140229343C>A	ENST00000532602.1	+	1	2296	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.Y421*|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGCCTACGAGCTGGTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													100	93	95			NA	NA	5		NA											NA				140229343		2196	4273	6469	SO:0001587	stop_gained			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1263C>A	5.37:g.140229343C>A	ENSP00000436042:p.Tyr421*	NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	37	6.376177	0.97515	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.6	-1.97	0.07503	.	0.000000	0.29522	U	0.011906	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2054	0.43109	0.0:0.5102:0.0:0.4898	.	.	.	.	X	421	.	ENSP00000367362:Y421X	Y	+	3	2	PCDHA9	140209527	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.684000	0.05173	-0.474000	0.06862	-0.752000	0.03492	TAC	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Nonsense_Mutation	SNP	5 : 140229343 - 140229343 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	886	223
PCDHB8	56128	broad.mit.edu	37	5	140558166	140558166	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140558166G>A	ENST00000239444.2	+	1	796	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R184H(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTCACCCGCAAACGCAGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											38	59	52			NA	NA	5		NA											NA				140558166		2200	4297	6497	SO:0001583	missense			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.551G>A	5.37:g.140558166G>A	ENSP00000239444:p.Arg184His	NA		37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	7.040	0.562271	0.13498	.	.	ENSG00000120322	ENST00000239444	T	0.20598	2.06	4.25	3.38	0.38709	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.15478	0.0373	L	0.39514	1.22	0.09310	N	1	B	0.24258	0.1	B	0.24269	0.052	T	0.25882	-1.0119	9	0.30854	T	0.27	.	4.629	0.12491	0.1865:0.0:0.6385:0.175	.	184	Q9UN66	PCDB8_HUMAN	H	184	ENSP00000239444:R184H	ENSP00000239444:R184H	R	+	2	0	PCDHB8	140538350	0.000000	0.05858	0.120000	0.21714	0.898000	0.52572	0.457000	0.21875	0.778000	0.33520	-0.225000	0.12378	CGC	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Missense_Mutation	SNP	5 : 140558166 - 140558166 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	529	7
PENK	5179	broad.mit.edu	37	8	57353857	57353857	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:57353857T>C	ENST00000314922.3	-	2	854	c.778A>G	c.(778-780)Aga>Gga	p.R260G	PENK_ENST00000451791.2_Missense_Mutation_p.R260G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	260					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCGTATCTTTTTTCCATT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	88	85			NA	NA	8		NA											NA				57353857		2203	4300	6503	SO:0001583	missense				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195	5179	5179		Endogenous ligands	8831	protein-coding gene	gene with protein product	preproenkephalin	131330			NA	6281660	Standard		NM_006211	NA	Approved		uc003xsz.2	P01210		ENST00000314922.3:c.778A>G	8.37:g.57353857T>C	ENSP00000324248:p.Arg260Gly	NA	B2RC23|Q6FHC6|Q6FHE6	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909140	0.72868	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	D;D	0.82619	-1.63;-1.63	5.71	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88660	0.3188	10	0.87932	D	0	-25.0477	11.9521	0.52961	0.0:0.0:0.2758:0.7242	.	260	P01210	PENK_HUMAN	G	260	ENSP00000324248:R260G;ENSP00000400894:R260G	ENSP00000324248:R260G	R	-	1	2	PENK	57516411	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	2.688000	0.46984	0.391000	0.25143	0.533000	0.62120	AGA	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378645.1		-	ENST00000314922.3	Missense_Mutation	SNP	8 : 57353857 - 57353857 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	620	5
PHKA2	5256	broad.mit.edu	37	X	18929061	18929061	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	117			NA	NA	X		NA											NA				18929061		2203	4300	6503	SO:0001583	missense				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	5256	5256	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK	NA	2387090	Standard	NM_000292	NM_000292	NA	Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2155C>T	X.37:g.18929061G>A	ENSP00000369274:p.Pro719Ser	NA	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055960.1		-	ENST00000379942.4	Missense_Mutation	SNP	X : 18929061 - 18929061 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	426	5
PIK3CG	5294	broad.mit.edu	37	7	106508903	106508903	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:106508903C>T	ENST00000359195.3	+	2	1207	c.897C>T	c.(895-897)aaC>aaT	p.N299N	PIK3CG_ENST00000440650.2_Silent_p.N299N|PIK3CG_ENST00000496166.1_Silent_p.N299N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	299					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.N299N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCTCAAGAACGGAGAAGAGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											49	48	48			NA	NA	7		NA											NA				106508903		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	5294	5294	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	phosphoinositide-3-kinase, catalytic, gamma polypeptide		NA		Standard		XM_005250443	NA	Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.897C>T	7.37:g.106508903C>T		NA	Q8IV23|Q9BZC8	37	CCDS5739.1																																																																																			PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349294.1		+	ENST00000359195.3	Silent	SNP	7 : 106508903 - 106508903 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	265	57
POLK	51426	broad.mit.edu	37	5	74886218	74886218	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:74886218G>C	ENST00000241436.4	+	11	1481	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	POLK_ENST00000380481.3_Missense_Mutation_p.E347Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000508526.1_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	437					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCTATGTCAAGAACTTTGCAG	0.338		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	142	141			NA	NA	5		NA											NA				74886218		2203	4300	6503	SO:0001583	missense			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008	51426	51426		DNA polymerases	9183	protein-coding gene	gene with protein product	polymerase (DNA-directed) kappa, DINB protein, DNA polymerase kappa	605650		DINB1	NA	10887153, 10518552	Standard	NM_016218	NM_016218	NA	Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1309G>C	5.37:g.74886218G>C	ENSP00000241436:p.Glu437Gln	NA	B2RBD2|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845069	0.71603	.	.	ENSG00000122008	ENST00000241436;ENST00000515295;ENST00000504026;ENST00000380481	T;T;T;T	0.44083	1.25;0.93;0.93;1.25	5.41	5.41	0.78517	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (2);	0.088157	0.85682	D	0.000000	T	0.56587	0.1995	L	0.43152	1.355	0.80722	D	1	P;D;D	0.56746	0.603;0.969;0.977	P;P;D	0.65573	0.457;0.662;0.936	T	0.52931	-0.8509	10	0.46703	T	0.11	-19.1778	17.7307	0.88376	0.0:0.0:1.0:0.0	.	437;437;437	Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;POLK_HUMAN	Q	437;437;437;347	ENSP00000241436:E437Q;ENSP00000424174:E437Q;ENSP00000425075:E437Q;ENSP00000369848:E347Q	ENSP00000241436:E437Q	E	+	1	0	POLK	74921974	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	9.536000	0.98067	2.701000	0.92244	0.591000	0.81541	GAA	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219945.3		+	ENST00000241436.4	Missense_Mutation	SNP	5 : 74886218 - 74886218 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	509	26
POLQ	10721	broad.mit.edu	37	3	121192310	121192310	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:121192310G>A	ENST00000264233.5	-	21	6558	c.6430C>T	c.(6430-6432)Ccc>Tcc	p.P2144S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2144					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTATTTGGGGGCAACTTCAAT	0.368		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(152;907 1925 26081 31236 36904)							NA				0													176	183	181			NA	NA	3		NA											NA				121192310		2203	4300	6503	SO:0001583	missense			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	10721	10721	2.7.7.7	DNA polymerases	9186	protein-coding gene	gene with protein product		604419			NA	10395804	Standard	NM_199420	NM_199420	NA	Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6430C>T	3.37:g.121192310G>A	ENSP00000264233:p.Pro2144Ser	NA	O95160|Q6VMB5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617703	0.87359	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58506	0.33	5.98	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.82923	2.615	0.42714	D	0.993654	D;D	0.89917	0.991;1.0	P;D	0.87578	0.634;0.998	T	0.80331	-0.1427	10	0.87932	D	0	.	14.6445	0.68751	0.0692:0.0:0.9307:0.0	.	2144;1316	O75417;O75417-2	DPOLQ_HUMAN;.	S	1767;2144;2280	ENSP00000264233:P2144S	ENSP00000264233:P2144S	P	-	1	0	POLQ	122675000	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.952000	0.75989	2.847000	0.97988	0.591000	0.81541	CCC	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355097.1		-	ENST00000264233.5	Missense_Mutation	SNP	3 : 121192310 - 121192310 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	875	7
POU2F1	5451	broad.mit.edu	37	1	167384904	167384904	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:167384904G>A	ENST00000367862.5	+	16	2360	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	POU2F1_ENST00000541643.3_Missense_Mutation_p.A697T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	697					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTCTGCCGCCGCAGCATCTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	139	142			NA	NA	1		NA											NA				167384904		2203	4300	6503	SO:0001583	missense			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190	5451	5451		Homeoboxes / POU class	9212	protein-coding gene	gene with protein product		164175	POU domain class 2, transcription factor 1	OTF1	NA	1887216	Standard	NM_002697	NM_002697	NA	Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000367862.5:c.2125G>A	1.37:g.167384904G>A	ENSP00000356836:p.Ala709Thr	NA	B1AL91|B1AL93|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	37	CCDS55656.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901045	0.72754	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.89746	-2.55;-2.53;-2.53;-2.52;-2.56	5.29	5.29	0.74685	.	0.188821	0.44902	D	0.000419	T	0.81211	0.4775	N	0.19112	0.55	0.35590	D	0.806972	D;D;D;P	0.56521	0.96;0.976;0.976;0.892	B;B;P;B	0.46510	0.151;0.29;0.519;0.151	D	0.85609	0.1257	9	0.87932	D	0	.	17.295	0.87168	0.0:0.0:1.0:0.0	.	657;709;695;697	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	T	720;657;695;697;709	ENSP00000356840:A720T;ENSP00000401217:A657T;ENSP00000356839:A695T;ENSP00000441285:A697T;ENSP00000356836:A709T	ENSP00000356836:A709T	A	+	1	0	POU2F1	165651528	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.572000	0.60886	2.746000	0.94184	0.591000	0.81541	GCA	POU2F1-003	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083248.2		+	ENST00000367862.5	Missense_Mutation	SNP	1 : 167384904 - 167384904 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	954	6
PPEF2	5470	broad.mit.edu	37	4	76811270	76811270	+	Missense_Mutation	SNP	C	C	T	rs112682717	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:76811270C>T	ENST00000286719.7	-	5	613	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	86					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.R86H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATATGCGGGTCAGGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(105;1359 1603 15961 44567 47947)							NA				1	Substitution - Missense(1)	ovary(1)						C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	154	142	146		257	3.3	1	4	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PPEF2	NM_006239.2	29	0,11,6492	TT,TC,CC	NA	0.0116,0.227,0.0846	benign	86/754	76811270	11,12995	2203	4300	6503	SO:0001583	missense			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194	5470	5470		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9244	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, beta isozyme	602256			NA	9326663, 12051765	Standard	NM_006239	NM_006239	NA	Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.257G>A	4.37:g.76811270C>T	ENSP00000286719:p.Arg86His	NA	O14831	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190443	0.09547	0.00227	1.16E-4	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.54866	0.55	5.07	3.33	0.38152	.	1.404560	0.04188	N	0.327755	T	0.42404	0.1201	L	0.27053	0.805	0.35716	D	0.816798	B;B	0.17465	0.02;0.022	B;B	0.15052	0.009;0.012	T	0.12941	-1.0528	10	0.23302	T	0.38	-0.3045	9.4751	0.38867	0.0:0.8244:0.0:0.1756	.	86;86	O14830-2;O14830	.;PPE2_HUMAN	H	86	ENSP00000286719:R86H	ENSP00000286719:R86H	R	-	2	0	PPEF2	77030294	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	2.004000	0.40854	0.540000	0.28808	0.313000	0.20887	CGC	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362929.1		-	ENST00000286719.7	Missense_Mutation	SNP	4 : 76811270 - 76811270 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	317	6
PPP2R2B	5521	broad.mit.edu	37	5	146080672	146080672	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:146080672G>A	ENST00000394413.3	-	2	674	c.104C>T	c.(103-105)aCg>aTg	p.T35M	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	35					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCTCCCGTGTGGTTGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													265	276	272			NA	NA	5		NA											NA				146080672		2203	4300	6503	SO:0001583	missense			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	5521	5521	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing	9305	protein-coding gene	gene with protein product	PP2A subunit B isoform beta	604325	spinocerebellar ataxia 12, protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform	SCA12	NA	1849734, 10581021	Standard	NM_181678	NM_181674	NA	Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.104C>T	5.37:g.146080672G>A	ENSP00000377935:p.Thr35Met	NA	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662241	0.88251	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	T;T;T;T;T;T;T;T;T;T;T	0.71341	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;-0.56	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.092479	0.64402	D	0.000001	D	0.85141	0.5629	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.993;0.993;0.998;0.996;0.984	P;P;P;P;P;P	0.61397	0.888;0.828;0.828;0.888;0.88;0.828	D	0.85944	0.1460	10	0.87932	D	0	-17.9695	20.6593	0.99626	0.0:0.0:1.0:0.0	.	93;41;24;101;38;35	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	35;24;101;35;35;35;24;38;41;93;15	ENSP00000377935:T35M;ENSP00000431320:T24M;ENSP00000377936:T101M;ENSP00000377933:T35M;ENSP00000349283:T35M;ENSP00000398779:T35M;ENSP00000377932:T24M;ENSP00000336591:T38M;ENSP00000421396:T41M;ENSP00000377931:T93M;ENSP00000421224:T15M	ENSP00000336591:T38M	T	-	2	0	AC011357.1	146060865	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.004000	0.88535	2.885000	0.99019	0.655000	0.94253	ACG	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251893.2		-	ENST00000394413.3	Missense_Mutation	SNP	5 : 146080672 - 146080672 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	1400	8
PRELP	5549	broad.mit.edu	37	1	203452587	203452587	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:203452587G>A	ENST00000343110.2	+	2	402	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	92					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGATAGCCGCAACCTGCGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	100	103			NA	NA	1		NA											NA				203452587		2203	4300	6503	SO:0001583	missense			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783	5549	5549		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	9357	protein-coding gene	gene with protein product	prolargin proteoglycan	601914	proline arginine-rich end leucine-rich repeat protein		NA		Standard	NM_002725	NM_002725	NA	Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.275G>A	1.37:g.203452587G>A	ENSP00000343924:p.Arg92His	NA		37	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136216	0.77662	.	.	ENSG00000188783	ENST00000343110	D	0.97066	-4.23	4.71	4.71	0.59529	Leucine-rich repeat-containing N-terminal (2);	0.065635	0.64402	D	0.000012	D	0.98115	0.9378	M	0.76727	2.345	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	D	0.98206	1.0470	10	0.40728	T	0.16	-15.1291	16.2483	0.82460	0.0:0.0:1.0:0.0	.	92	P51888	PRELP_HUMAN	H	92	ENSP00000343924:R92H	ENSP00000343924:R92H	R	+	2	0	PRELP	201719210	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.990000	0.56965	2.165000	0.68154	0.462000	0.41574	CGC	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087474.1		+	ENST00000343110.2	Missense_Mutation	SNP	1 : 203452587 - 203452587 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	579	6
PSMA1	5682	broad.mit.edu	37	11	14536026	14536026	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:14536026C>T	ENST00000530457.1	-	5	721	c.191G>A	c.(190-192)cGt>cAt	p.R64H	PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H|PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000396394.2_Missense_Mutation_p.R89H			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACACTCCTGACGCATAAAATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	38	37	37		266,266,284	5.7	1	11		37	0,8588		0,0,4294	no	missense,missense,missense	PSMA1	NM_001143937.1,NM_002786.3,NM_148976.2	29,29,29	0,1,6493	TT,TC,CC	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	89/131,89/264,95/270	14536026	1,12987	2200	4294	6494	SO:0001583	missense			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084	5682	5682		Proteasome (prosome, macropain) subunits	9530	protein-coding gene	gene with protein product		602854			NA	1398136, 2025653	Standard	NM_002786	NM_148976	NA	Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000530457.1:c.191G>A	11.37:g.14536026C>T	ENSP00000441166:p.Arg64His	NA	A8K400|Q9BRV9	37		.	.	.	.	.	.	.	.	.	.	C	31	5.096602	0.94197	2.27E-4	0.0	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	H	0.94542	3.55	0.80722	D	1	B;P;P	0.41710	0.389;0.76;0.543	B;B;B	0.34931	0.047;0.192;0.18	T	0.66380	-0.5938	10	0.66056	D	0.02	-2.5165	19.813	0.96554	0.0:1.0:0.0:0.0	.	89;95;89	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	H	89;89;89;64;95	ENSP00000392242:R89H;ENSP00000379676:R89H;ENSP00000379675:R89H;ENSP00000441166:R64H;ENSP00000414359:R95H	ENSP00000379675:R89H	R	-	2	0	PSMA1	14492602	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.018000	0.76406	2.683000	0.91414	0.591000	0.81541	CGT	PSMA1-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000386962.2		-	ENST00000530457.1	Missense_Mutation	SNP	11 : 14536026 - 14536026 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	140	12
PTPRT	11122	broad.mit.edu	37	20	40980846	40980846	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:40980846T>C	ENST00000373198.4	-	10	1875	c.1640A>G	c.(1639-1641)aAt>aGt	p.N547S	PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N547S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGGTTTCATTCCGGAGCTT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	92	91			NA	NA	20		NA											NA				40980846		1962	4144	6106	SO:0001583	missense			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.1640A>G	20.37:g.40980846T>C	ENSP00000362294:p.Asn547Ser	NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37		.	.	.	.	.	.	.	.	.	.	T	16.40	3.112398	0.56398	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.093376	0.64402	D	0.000001	T	0.49541	0.1563	L	0.47190	1.495	0.58432	D	0.999992	B;B	0.32893	0.337;0.389	B;B	0.33454	0.102;0.164	T	0.48340	-0.9044	10	0.46703	T	0.11	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	547;547	O14522-1;O14522	.;PTPRT_HUMAN	S	547	ENSP00000362286:N547S;ENSP00000362283:N547S;ENSP00000362289:N547S;ENSP00000348408:N547S;ENSP00000362294:N547S;ENSP00000362280:N547S;ENSP00000362297:N547S	ENSP00000348408:N547S	N	-	2	0	PTPRT	40414260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.310000	0.77875	0.450000	0.29827	AAT	PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Missense_Mutation	SNP	20 : 40980846 - 40980846 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	346	120
RBMS2	5939	broad.mit.edu	37	12	56956368	56956368	+	Splice_Site	SNP	G	G	A	rs140037879		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:56956368G>A	ENST00000262031.5	+	2	328		c.e2+1		RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000549945.1_Splice_Site|RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000552247.2_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	NA					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGTGTCAGCCGTAAGTTGGAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	147	131	136			4.7	1	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	splice-5	RBMS2	NM_002898.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077			56956368	1,13005	2203	4300	6503	SO:0001630	splice_region_variant			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067	5939	5939		RNA binding motif (RRM) containing	9909	protein-coding gene	gene with protein product		602387			NA	8041632	Standard	NM_002898	NM_002898	NA	Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.233+1G>A	12.37:g.56956368G>A		NA		37	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402870	0.83230	0.0	1.16E-4	ENSG00000076067	ENST00000262031;ENST00000552247	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8474	0.85984	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55242635	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.989000	0.93506	2.589000	0.87451	0.555000	0.69702	.	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409366.2	Intron	+	ENST00000262031.5	Splice_Site	SNP	12 : 56956368 - 56956368 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	474	5
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627		NA									OREG0025455	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													97	84	88			NA	NA	19		NA											NA				39421234		2203	4300	6503	SO:0001583	missense			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	54938	54938	6.1.1.11	Aminoacyl tRNA synthetases / Class II	17697	protein-coding gene	gene with protein product	serine tRNA ligase 2, mitochondrial	612804	serine-tRNA ligase, mitochondrial, seryl-tRNA synthetase 2	SARSM	NA	10764807	Standard	NM_017827	NM_001145901	NA	Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val	885	A6NHW7|Q9BVP3	37	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463139.1		-	ENST00000221431.6	Missense_Mutation	SNP	19 : 39421234 - 39421234 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	670	7
SDHA	6389	broad.mit.edu	37	5	236660	236660	+	Silent	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:236660C>T	ENST00000264932.6	+	10	1493	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	SDHA_ENST00000510361.1_Silent_p.L412L|SDHA_ENST00000504309.1_Silent_p.L460L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	460					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCTCTTGGACCTGGTTGTCTT	0.597		NA							Familial Paragangliomas					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	5		NA											NA				236660		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578	6389	6389		Mitochondrial respiratory chain complex / Complex II	10680	protein-coding gene	gene with protein product		600857		SDH2	NA	7798181	Standard	NM_004168	XM_005248329	NA	Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1378C>T	5.37:g.236660C>T		NA	A8K5J6|Q16395|Q9UMY5	37	CCDS3853.1																																																																																			SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206599.1		+	ENST00000264932.6	Silent	SNP	5 : 236660 - 236660 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	417	5
SFTPC	6440	broad.mit.edu	37	8	22019355	22019355	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:22019355G>A	ENST00000524255.1	+	1	36	c.14G>A	c.(13-15)aGc>aAc	p.S5N	SFTPC_ENST00000521315.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N			P11686	PSPC_HUMAN	surfactant protein C	5					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GATGTGGGCAGCAAAGAGGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	188	180			NA	NA	8		NA											NA				22019355		2168	4261	6429	SO:0001583	missense				CCDS43722.1, CCDS55209.1	8p21	2012-10-10	2008-08-26		ENSG00000168484	ENSG00000168484	6440	6440		BRICHOS domain containing	10802	protein-coding gene	gene with protein product	BRICHOS domain containing 6	178620	surfactant, pulmonary-associated protein C	SFTP2	NA	1859376, 16709565	Standard	NM_003018	NM_003018	NA	Approved	SP-C, PSP-C, SMDP2, BRICD6	uc003xay.4	P11686	OTTHUMG00000163775	ENST00000524255.1:c.14G>A	8.37:g.22019355G>A	ENSP00000429552:p.Ser5Asn	NA	A6XNE4|B2RE00|P11687|Q12793|Q7Z5D0	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.206747	0.79127	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.94723	-3.5;-3.5;-3.5;0.36;-3.5;0.93;0.44;-3.5	4.96	4.05	0.47172	Surfactant protein C, N-terminal propeptide (1);	0.110508	0.41396	D	0.000900	D	0.95214	0.8448	L	0.51422	1.61	0.26652	N	0.97208	P;P;P;D;D	0.69078	0.873;0.939;0.896;0.978;0.997	P;P;P;P;D	0.79108	0.599;0.795;0.649;0.795;0.992	D	0.88648	0.3180	10	0.39692	T	0.17	-2.5092	10.3782	0.44094	0.0:0.2154:0.7846:0.0	.	5;5;5;5;5	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	N	5	ENSP00000316152:S5N;ENSP00000430410:S5N;ENSP00000407931:S5N;ENSP00000430266:S5N;ENSP00000429496:S5N;ENSP00000429552:S5N;ENSP00000429619:S5N;ENSP00000428817:S5N	ENSP00000316152:S5N	S	+	2	0	SFTPC	22075300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.198000	0.42705	2.564000	0.86499	0.655000	0.94253	AGC	SFTPC-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375370.1		+	ENST00000524255.1	Missense_Mutation	SNP	8 : 22019355 - 22019355 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	449	5
SLC5A2	6524	broad.mit.edu	37	16	31500513	31500513	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:31500513G>C	ENST00000330498.3	+	12	1538	c.1519G>C	c.(1519-1521)Ggc>Cgc	p.G507R		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	507					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GTTCTCCTTCGGCTCGGGCAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	57	62			NA	NA	16		NA											NA				31500513		2197	4300	6497	SO:0001583	missense				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675	6524	6524		Solute carriers	11037	protein-coding gene	gene with protein product		182381		SGLT2	NA	8244402	Standard		NM_003041	NA	Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1519G>C	16.37:g.31500513G>C	ENSP00000327943:p.Gly507Arg	NA		37	CCDS10714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702935|3.702935	0.68501|0.68501	.|.	.|.	ENSG00000140675|ENSG00000140675	ENST00000330498|ENST00000419665	D|D	0.86769|0.86366	-2.17|-2.11	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90950|0.90950	0.7155|0.7155	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91742|0.91742	0.5405|0.5405	10|7	0.11794|0.66056	T|D	0.64|0.02	.|.	15.362|15.362	0.74483|0.74483	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	P31639|.	SC5A2_HUMAN|.	R|P	507|400	ENSP00000327943:G507R|ENSP00000410601:R400P	ENSP00000327943:G507R|ENSP00000410601:R400P	G|R	+|+	1|2	0|0	SLC5A2|SLC5A2	31408014|31408014	1.000000|1.000000	0.71417|0.71417	0.587000|0.587000	0.28692|0.28692	0.658000|0.658000	0.38924|0.38924	3.548000|3.548000	0.53670|0.53670	2.491000|2.491000	0.84063|0.84063	0.561000|0.561000	0.74099|0.74099	GGC|CGG	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255627.2		+	ENST00000330498.3	Missense_Mutation	SNP	16 : 31500513 - 31500513 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	386	111
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:48604736G>T	ENST00000588745.1	+	8	1270	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	SMAD4_ENST00000342988.3_Nonsense_Mutation_p.E520*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*			Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											98	94	96			NA	NA	18		NA											NA				48604736		2203	4300	6503	SO:0001587	stop_gained			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.1270G>T	18.37:g.48604736G>T	ENSP00000464901:p.Glu424*	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Nonsense_Mutation	SNP	18 : 48604736 - 48604736 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	366	136
SPATA31E1	286234	broad.mit.edu	37	9	90499515	90499517	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:90499515_90499517delTCC	ENST00000325643.5	+	3	440_442	c.374_376delTCC	c.(373-378)atcctc>atc	p.L127del		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1	NA											NA						GCTTGCAGAATCCTCCTGAGGGA	0.576		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:0001651	inframe_deletion			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992	286234	286234			26672	protein-coding gene	gene with protein product			chromosome 9 open reading frame 79, family with sequence similarity 75, member E1	C9orf79, FAM75E1	NA		Standard	NM_178828	NM_178828	NA	Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.374_376delTCC	9.37:g.90499518_90499520delTCC	ENSP00000322640:p.Leu127del	NA		37	CCDS6676.1																																																																																			SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052954.2		+	ENST00000325643.5	In_Frame_Del	DEL	9 : 90499515 - 90499517 - PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	312	60
SRR	63826	broad.mit.edu	37	17	2224891	2224891	+	Missense_Mutation	SNP	G	G	C	rs141694122		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:2224891G>C	ENST00000344595.5	+	6	893	c.575G>C	c.(574-576)gGa>gCa	p.G192A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	192					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGCTTGCTGGAATAGCAATT	0.403		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	EXOME	NA	NA	4e-04	SNP								NA				0								G	ALA/GLY	0,4406		0,0,2203	105	100	102		575	5.9	1	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	SRR	NM_021947.1	60	0,2,6501	CC,CG,GG	NA	0.0233,0.0,0.0154	probably-damaging	192/341	2224891	2,13004	2203	4300	6503	SO:0001583	missense			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720	63826	63826			14398	protein-coding gene	gene with protein product		606477			NA	17067558, 15953485, 15193426	Standard	NM_021947	NM_021947	NA	Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.575G>C	17.37:g.2224891G>C	ENSP00000339435:p.Gly192Ala	NA	D3DTI5|Q6IA55	37	CCDS11017.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.8	4.460526	0.84317	0.0	2.33E-4	ENSG00000167720	ENST00000344595	D	0.98419	-4.92	5.95	5.95	0.96441	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98740	1.0716	10	0.87932	D	0	3.4694	19.4464	0.94849	0.0:0.0:1.0:0.0	.	192	Q9GZT4	SRR_HUMAN	A	192	ENSP00000339435:G192A	ENSP00000339435:G192A	G	+	2	0	SRR	2171641	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.265000	0.72534	2.836000	0.97738	0.650000	0.86243	GGA	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207129.2		+	ENST00000344595.5	Missense_Mutation	SNP	17 : 2224891 - 2224891 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	310	24
STAG2	10735	broad.mit.edu	37	X	123181288	123181288	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:123181288A>C	ENST00000371160.1	+	9	1042	c.752A>C	c.(751-753)gAa>gCa	p.E251A	STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000354548.5_Missense_Mutation_p.E182A|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	251					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATGAAGCAGAACGGAATAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	X		NA											NA				123181288		2203	4300	6503	SO:0001583	missense			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972	10735	10735			11355	protein-coding gene	gene with protein product		300826			NA	9305759	Standard	NM_006603	NM_001042750	NA	Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.752A>C	X.37:g.123181288A>C	ENSP00000360202:p.Glu251Ala	NA	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756245	0.89843	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.58	5.58	0.84498	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.983	D	0.84849	0.0812	10	0.52906	T	0.07	-8.161	14.6793	0.69004	1.0:0.0:0.0:0.0	.	251;251	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	A	251;251;182;251;251;251;251	ENSP00000218089:E251A;ENSP00000397265:E251A;ENSP00000346555:E182A;ENSP00000360202:E251A;ENSP00000360199:E251A;ENSP00000360187:E251A;ENSP00000360186:E251A	ENSP00000218089:E251A	E	+	2	0	STAG2	123008969	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.335000	0.96500	1.847000	0.53656	0.486000	0.48141	GAA	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156159.2		+	ENST00000371160.1	Missense_Mutation	SNP	X : 123181288 - 123181288 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	372	19
TEKT4	150483	broad.mit.edu	37	2	95542449	95542449	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:95542449C>T	ENST00000295201.4	+	6	1380	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	415					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTCATCGACCGCCAGAAGTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	58	66			NA	NA	2		NA											NA				95542449		2203	4300	6503	SO:0001583	missense			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060	150483	150483			31012	protein-coding gene	gene with protein product					NA		Standard	NM_144705	XM_005263876	NA	Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1243C>T	2.37:g.95542449C>T	ENSP00000295201:p.Arg415Cys	NA		37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	15.98	2.991699	0.54041	.	.	ENSG00000163060	ENST00000295201	T	0.03004	4.08	2.43	1.37	0.22104	.	0.113718	0.56097	D	0.000031	T	0.15565	0.0375	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	T	0.00972	-1.1495	10	0.87932	D	0	-12.3923	7.2052	0.25903	0.405:0.595:0.0:0.0	.	415	Q8WW24	TEKT4_HUMAN	C	415	ENSP00000295201:R415C	ENSP00000295201:R415C	R	+	1	0	TEKT4	94906176	0.118000	0.22208	1.000000	0.80357	0.869000	0.49853	-0.744000	0.04839	1.049000	0.40321	0.281000	0.19383	CGC	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252777.1		+	ENST00000295201.4	Missense_Mutation	SNP	2 : 95542449 - 95542449 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	164	5
TMEM131	23505	broad.mit.edu	37	2	98377121	98377121	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:98377121G>T	ENST00000186436.5	-	38	5271	c.5043C>A	c.(5041-5043)aaC>aaA	p.N1681K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1681	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACCTGTTTTGTTTGAAGAAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	106	105			NA	NA	2		NA											NA				98377121		1976	4153	6129	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5043C>A	2.37:g.98377121G>T	ENSP00000186436:p.Asn1681Lys	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992820	0.35131	.	.	ENSG00000075568	ENST00000186436	T	0.30714	1.52	5.39	2.12	0.27331	.	0.600408	0.18546	N	0.138053	T	0.13927	0.0337	N	0.24115	0.695	0.80722	D	1	B;B	0.16396	0.002;0.017	B;B	0.12837	0.001;0.008	T	0.12734	-1.0536	10	0.05721	T	0.95	-8.0245	4.4318	0.11531	0.3871:0.0:0.4636:0.1493	.	1681;61	Q92545;Q0P631	TM131_HUMAN;.	K	1681	ENSP00000186436:N1681K	ENSP00000186436:N1681K	N	-	3	2	TMEM131	97743553	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	1.997000	0.40786	0.764000	0.33197	0.643000	0.83706	AAC	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98377121 - 98377121 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	110	38
TMEM8B	51754	broad.mit.edu	37	9	35853151	35853151	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:35853151T>A	ENST00000377991.4	+	13	1995	c.980T>A	c.(979-981)cTg>cAg	p.L327Q	TMEM8B_ENST00000377988.2_Missense_Mutation_p.L327Q	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	327					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTGTATTTGCTGGGAGCTATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	159	159			NA	NA	9		NA											NA				35853151		2018	4181	6199	SO:0001583	missense			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103	51754	51754			21427	protein-coding gene	gene with protein product	nasopharyngeal carcinoma expressed 6		chromosome 9 open reading frame 127	C9orf127	NA	12918109, 8619474	Standard	NM_016446	NM_016446	NA	Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.980T>A	9.37:g.35853151T>A	ENSP00000367230:p.Leu327Gln	NA	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237817	0.79800	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.48836	0.8;0.8	4.98	4.98	0.66077	.	.	.	.	.	T	0.71091	0.3299	M	0.84683	2.71	0.54753	D	0.999986	D	0.76494	0.999	D	0.87578	0.998	T	0.76642	-0.2884	9	0.72032	D	0.01	.	13.8098	0.63256	0.0:0.0:0.0:1.0	.	327	A6NDV4	TMM8B_HUMAN	Q	327	ENSP00000367230:L327Q;ENSP00000367227:L327Q	ENSP00000367227:L327Q	L	+	2	0	TMEM8B	35843151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.002000	0.58637	0.454000	0.30748	CTG	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052388.2		+	ENST00000377991.4	Missense_Mutation	SNP	9 : 35853151 - 35853151 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	984	7
TNKS1BP1	85456	broad.mit.edu	37	11	57076139	57076139	+	Missense_Mutation	SNP	G	G	A	rs143761660		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57076139G>A	ENST00000532437.1	-	5	4357	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1349	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTCTGGGGCGCCAAGTCCTG	0.647		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8271	EXOME	NA	NA	6e-04	SNP								NA				0								G	VAL/ALA	0,4402		0,0,2201	89	98	95		4046	2.1	0	11	dbSNP_134	95	5,8587	3.7+/-12.6	0,5,4291	yes	missense	TNKS1BP1	NM_033396.2	64	0,5,6492	AA,AG,GG	NA	0.0582,0.0,0.0385	benign	1349/1730	57076139	5,12989	2201	4296	6497	SO:0001583	missense			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115	85456	85456			19081	protein-coding gene	gene with protein product		607104			NA	11854288	Standard	NM_033396	NM_033396	NA	Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4046C>T	11.37:g.57076139G>A	ENSP00000437271:p.Ala1349Val	NA	A7E2F8|Q6PJ35|Q6ZV74	37	CCDS7951.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.089	0.571853	0.13623	0.0	5.82E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30981	1.51;1.51	5.08	2.14	0.27477	.	0.362114	0.23530	N	0.047188	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.30193	0.272	B	0.17979	0.02	T	0.16335	-1.0406	10	0.37606	T	0.19	-5.0064	7.4646	0.27314	0.0:0.5833:0.3269:0.0898	.	1349	Q9C0C2	TB182_HUMAN	V	1349	ENSP00000350990:A1349V;ENSP00000437271:A1349V	ENSP00000350990:A1349V	A	-	2	0	TNKS1BP1	56832715	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.214000	0.17541	0.174000	0.19809	-0.539000	0.04255	GCG	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392455.1		-	ENST00000532437.1	Missense_Mutation	SNP	11 : 57076139 - 57076139 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	860	6
TNS1	7145	broad.mit.edu	37	2	218683151	218683151	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:218683151G>A	ENST00000419504.1	-	22	3714	c.3553C>T	c.(3553-3555)Cgg>Tgg	p.R1185W	TNS1_ENST00000171887.4_Missense_Mutation_p.R1198W|TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W			Q9HBL0	TENS1_HUMAN	tensin 1	1198						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTGATGGCCCGCCAGCCGAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	54			NA	NA	2		NA											NA				218683151		2203	4300	6503	SO:0001583	missense			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308	7145	7145		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing	11973	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 155	600076	tensin, matrix-remodelling associated 6	TNS, MXRA6	NA		Standard	NM_022648	NM_022648	NA	Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000419504.1:c.3553C>T	2.37:g.218683151G>A	ENSP00000408724:p.Arg1185Trp	NA	Q4ZG71	37		.	.	.	.	.	.	.	.	.	.	G	17.26	3.344661	0.61073	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92965	-3.14;1.75;-3.13;-3.13	4.61	4.61	0.57282	.	0.275476	0.28784	N	0.014151	D	0.93569	0.7947	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.995;0.994	D	0.93425	0.6780	10	0.72032	D	0.01	.	10.717	0.46019	0.0:0.0:0.6693:0.3307	.	1198;1177;1185	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	W	1198;336;1185;1177	ENSP00000171887:R1198W;ENSP00000394171:R336W;ENSP00000408724:R1185W;ENSP00000406016:R1177W	ENSP00000171887:R1198W	R	-	1	2	TNS1	218391396	0.758000	0.28405	0.999000	0.59377	0.780000	0.44128	0.682000	0.25335	2.403000	0.81681	0.563000	0.77884	CGG	TNS1-004	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339207.1		-	ENST00000419504.1	Missense_Mutation	SNP	2 : 218683151 - 218683151 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	521	6
TOX2	84969	broad.mit.edu	37	20	42695426	42695426	+	Silent	SNP	A	A	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:42695426A>T	ENST00000358131.5	+	7	1567	c.1359A>T	c.(1357-1359)ccA>ccT	p.P453P	TOX2_ENST00000341197.4_Silent_p.P471P|TOX2_ENST00000423191.2_Silent_p.P429P|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.P429P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	453	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACCTGGCCCATCCAACCCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	122	125			NA	NA	20		NA											NA				42695426		2203	4300	6503	SO:0001819	synonymous_variant			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1359A>T	20.37:g.42695426A>T		NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	A	5.215	0.225183	0.09916	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.78	-11.3	0.00108	.	.	.	.	.	T	0.74997	0.3790	.	.	.	0.38329	D	0.943755	.	.	.	.	.	.	D	0.87310	0.2311	5	0.87932	D	0	.	20.2522	0.98409	0.8527:0.0:0.1473:0.0	.	.	.	.	L	78	.	ENSP00000362083:H78L	H	+	2	0	TOX2	42128840	0.071000	0.21146	0.033000	0.17914	0.065000	0.16274	-0.405000	0.07196	-3.008000	0.00273	-2.200000	0.00306	CAT	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Silent	SNP	20 : 42695426 - 42695426 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	807	35
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:7577538C>A	ENST00000420246.2	-	7	875	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000269305.4_Missense_Mutation_p.R248L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652						152	112	126			NA	NA	17		NA											NA				7577538		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.743G>T	17.37:g.7577538C>A	ENSP00000391127:p.Arg248Leu	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577538 - 7577538 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	275	81
TRHDE	29953	broad.mit.edu	37	12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATTCATAAGTATGGTAAT	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	12		NA											NA				72955964		2197	4267	6464	SO:0001583	missense			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	29953	29953	3.4.19.6		30748	protein-coding gene	gene with protein product	pyroglutamyl-peptidase II, pyroglutamyl aminopeptidase II, TRH-specific aminopeptidase	606950			NA	10491199, 12975309	Standard	NM_013381	NM_013381	NA	Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1673A>C	12.37:g.72955964A>C	ENSP00000261180:p.Lys558Thr	NA	A5PL19|Q6UWJ4	37	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.751192|2.751192	0.49257|0.49257	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.05258|.	3.47|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045759|.	0.85682|.	D|.	0.000000|.	T|.	0.75889|.	0.3911|.	M|M	0.75150|0.75150	2.29|2.29	0.47819|0.47819	D|D	0.99952|0.99952	P|.	0.40144|.	0.704|.	B|.	0.30716|.	0.119|.	T|.	0.75941|.	-0.3140|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q9UKU6|.	TRHDE_HUMAN|.	T|Y	558|145	ENSP00000261180:K558T|.	ENSP00000261180:K558T|.	K|X	+|+	2|3	0|2	TRHDE|TRHDE	71242231|71242231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.855000|3.855000	0.55957|0.55957	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	AAG|TAA	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405380.1		+	ENST00000261180.4	Missense_Mutation	SNP	12 : 72955964 - 72955964 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	211	13
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398		NA							Mulibrey Nanism					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)											125	133	130			NA	NA	17		NA											NA				57093004		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395	4591	4591		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	7523	protein-coding gene	gene with protein product	RING-B-box-coiled-coil protein	605073	tripartite motif-containing 37	MUL	NA	9106536, 10888877	Standard	NM_015294	NM_015294	NA	Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val	NA	Q7Z3E6|Q8IYF7|Q8WYF7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445930.1		-	ENST00000262294.7	Missense_Mutation	SNP	17 : 57093004 - 57093004 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	704	5
TRIM51	84767	broad.mit.edu	37	11	55653623	55653623	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:55653623T>C	ENST00000449290.2	+	3	528	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TRIM51_ENST00000244891.3_Missense_Mutation_p.S3P	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	146						intracellular	zinc ion binding				NA						AAAAATGCAGTCTTTATGGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	PRO/SER	2,4400		0,2,2199	55	58	57		436	NA	0	11		57	3,8589		0,3,4293	no	missense	SPRYD5	NM_032681.3	74	0,5,6492	CC,CT,TT	NA	0.0349,0.0454,0.0385	benign	146/453	55653623	5,12989	2201	4296	6497	SO:0001583	missense			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900	84767	84767		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	19023	protein-coding gene	gene with protein product			SPRY domain containing 5	SPRYD5	NA		Standard	NM_032681	NM_032681	NA	Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.436T>C	11.37:g.55653623T>C	ENSP00000395086:p.Ser146Pro	NA	A6NMG2	37		.	.	.	.	.	.	.	.	.	.	.	1.685	-0.505613	0.04261	4.54E-4	3.49E-4	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.57595	0.39;0.59	.	.	.	.	.	.	.	.	T	0.59418	0.2192	M	0.85197	2.74	0.09310	N	1	P	0.40398	0.716	P	0.49192	0.602	T	0.53143	-0.8480	7	0.35671	T	0.21	.	.	.	.	.	146	Q9BSJ1	SPRY5_HUMAN	P	146;3	ENSP00000395086:S146P;ENSP00000244891:S3P	ENSP00000244891:S3P	S	+	1	0	SPRYD5	55410199	0.001000	0.12720	0.028000	0.17463	0.144000	0.21451	-0.552000	0.06020	-0.745000	0.04772	0.128000	0.15822	TCT	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000391522.1		+	ENST00000449290.2	Missense_Mutation	SNP	11 : 55653623 - 55653623 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	206	10
TRIO	7204	broad.mit.edu	37	5	14369548	14369548	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:14369548G>A	ENST00000344204.4	+	18	3156	c.3132G>A	c.(3130-3132)gcG>gcA	p.A1044A	TRIO_ENST00000509967.2_Silent_p.A995A|TRIO_ENST00000537187.1_Silent_p.A1044A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1044					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGGCGGGGCGGATAAGCTGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	88	87			NA	NA	5		NA											NA				14369548		2203	4300	6503	SO:0001819	synonymous_variant			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	7204	7204		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing	12303	protein-coding gene	gene with protein product		601893	triple functional domain (PTPRF interacting)		NA	8643598	Standard	NM_007118	NM_007118	NA	Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3132G>A	5.37:g.14369548G>A		NA	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	37	CCDS3883.1																																																																																			TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253711.2		+	ENST00000344204.4	Silent	SNP	5 : 14369548 - 14369548 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	377	5
TTN	7273	broad.mit.edu	37	2	179425623	179425623	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179425623A>C	ENST00000589042.1	-	326	85460	c.85236T>G	c.(85234-85236)caT>caG	p.H28412Q	TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H26771Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26771	Fibronectin type-III 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACAAAGTATGATTGTCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	125	132			NA	NA	2		NA											NA				179425623		1924	4139	6063	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.85236T>G	2.37:g.179425623A>C	ENSP00000467141:p.His28412Gln	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	A	3.073	-0.190763	0.06299	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.97	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49795	0.1578	L	0.41961	1.31	0.09310	N	0.999996	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.17979	0.011;0.011;0.02;0.02	T	0.49360	-0.8948	9	0.87932	D	0	.	6.1603	0.20360	0.543:0.0:0.3354:0.1216	.	19347;19472;19539;26771	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	25844;19347;19539;19472;19345	ENSP00000343764:H25844Q;ENSP00000434586:H19347Q;ENSP00000340554:H19539Q;ENSP00000352154:H19472Q	ENSP00000340554:H19539Q	H	-	3	2	TTN	179133869	0.000000	0.05858	0.039000	0.18376	0.227000	0.25037	-0.205000	0.09411	0.170000	0.19704	0.533000	0.62120	CAT	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179425623 - 179425623 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	186	7
UBP1	7342	broad.mit.edu	37	3	33467138	33467138	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:33467138G>A	ENST00000283629.3	-	2	738	c.209C>T	c.(208-210)gCt>gTt	p.A70V	UBP1_ENST00000447368.2_Missense_Mutation_p.A70V|UBP1_ENST00000283628.5_Missense_Mutation_p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	70					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGACGTTGCAGCACACATCAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	77	83			NA	NA	3		NA											NA				33467138		2203	4300	6503	SO:0001583	missense			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560	7342	7342			12507	protein-coding gene	gene with protein product		609784			NA	8114710	Standard	NM_014517	NM_014517	NA	Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.209C>T	3.37:g.33467138G>A	ENSP00000283629:p.Ala70Val	NA	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478314	0.84747	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.92	5.92	0.95590	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.92459	3.31	0.80722	D	1	B;D	0.54207	0.275;0.965	B;P	0.55161	0.046;0.77	T	0.74259	-0.3723	10	0.87932	D	0	-11.8325	20.33	0.98713	0.0:0.0:1.0:0.0	.	70;70	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	V	70	ENSP00000283629:A70V;ENSP00000395558:A70V;ENSP00000283628:A70V;ENSP00000401614:A70V	ENSP00000283628:A70V	A	-	2	0	UBP1	33442142	1.000000	0.71417	0.961000	0.40146	0.928000	0.56348	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	GCT	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253249.2		-	ENST00000283629.3	Missense_Mutation	SNP	3 : 33467138 - 33467138 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	134	4
UGT1A7	54577	broad.mit.edu	37	2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2			UDP glucuronosyltransferase 1 family, polypeptide A7	NA										NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCTGTCACGGCATATGATCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	212	208			NA	NA	2		NA											NA				234591304		2203	4300	6503	SO:0001583	missense			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122	54577	54577		UDP glucuronosyltransferases	12539	other	complex locus constituent		606432	UDP glycosyltransferase 1 family, polypeptide A6		NA	9295054, 11434514	Standard	NM_019077	NM_019077	NA	Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr	NA		37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130614.1		+	ENST00000373426.3	Missense_Mutation	SNP	2 : 234591304 - 234591304 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	1337	7
VSNL1	7447	broad.mit.edu	37	2	17830679	17830679	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:17830679C>A	ENST00000406397.1	+	3	690	c.165C>A	c.(163-165)ttC>ttA	p.F55L	VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L|VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L			P62760	VISL1_HUMAN	visinin-like 1	55	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGCAGTTCTTTCCTTATG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	115	115			NA	NA	2		NA											NA				17830679		2203	4300	6503	SO:0001583	missense				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032	7447	7447		EF-hand domain containing	12722	protein-coding gene	gene with protein product	hippocalcin-like protein 3	600817			NA	8530085, 2202488	Standard	NM_003385	NM_003385	NA	Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.165C>A	2.37:g.17830679C>A	ENSP00000384719:p.Phe55Leu	NA	D6W515|P28677|P29103|P42323|Q9UM20	37	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911958	0.52439	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.34	3.44	0.39384	EF-hand-like domain (1);	0.104574	0.64402	D	0.000002	T	0.28134	0.0694	M	0.79123	2.44	0.58432	D	0.999991	B	0.12013	0.005	B	0.10450	0.005	T	0.28713	-1.0035	10	0.72032	D	0.01	.	7.306	0.26447	0.0:0.7406:0.0:0.2594	.	55	P62760	VISL1_HUMAN	L	55	ENSP00000384014:F55L;ENSP00000405511:F55L;ENSP00000295156:F55L;ENSP00000390124:F55L;ENSP00000384719:F55L	ENSP00000295156:F55L	F	+	3	2	VSNL1	17694160	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.151000	0.42263	2.122000	0.65172	0.454000	0.30748	TTC	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323803.1		+	ENST00000406397.1	Missense_Mutation	SNP	2 : 17830679 - 17830679 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	490	62
ZC3H6	376940	broad.mit.edu	37	2	113089550	113089550	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113089550G>A	ENST00000409871.1	+	12	3456	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1019							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTCTGGTTCCGGGGCTCTGCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	2		NA											NA				113089550		1901	4124	6025	SO:0001583	missense			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177	376940	376940		Zinc fingers, CCCH-type domain containing	24762	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 6	ZC3HDC6	NA		Standard	NM_198581	NM_198581	NA	Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3055G>A	2.37:g.113089550G>A	ENSP00000386764:p.Gly1019Arg	NA	A9JR71|Q6ZW96	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257724	0.10239	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.13538	2.58;2.58	5.33	3.27	0.37495	.	0.565940	0.18877	N	0.128691	T	0.11452	0.0279	L	0.44542	1.39	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.25152	-1.0140	10	0.33141	T	0.24	-0.002	8.1676	0.31237	0.2758:0.0:0.7242:0.0	.	1019	P61129	ZC3H6_HUMAN	R	1019	ENSP00000386764:G1019R;ENSP00000340298:G1019R	ENSP00000340298:G1019R	G	+	1	0	ZC3H6	112806021	1.000000	0.71417	0.162000	0.22713	0.473000	0.32948	4.501000	0.60393	0.434000	0.26340	0.591000	0.81541	GGG	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330551.1		+	ENST00000409871.1	Missense_Mutation	SNP	2 : 113089550 - 113089550 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	221	46
ZC3HAV1	56829	broad.mit.edu	37	7	138738203	138738203	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:138738203C>T	ENST00000242351.5	-	12	2759	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	815	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TAACCTTTTCCGTATTTGTTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	121	120			NA	NA	7		NA											NA				138738203		2203	4300	6503	SO:0001583	missense			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939	56829	56829		Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases	23721	protein-coding gene	gene with protein product	zinc finger antiviral protein,  CCCH-type zinc finger antiviral protein	607312			NA	12215647, 12851707	Standard	NM_020119	NM_024625	NA	Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2443G>A	7.37:g.138738203C>T	ENSP00000242351:p.Gly815Arg	NA	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550249	0.65311	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.78364	-1.17;-1.17	5.2	5.2	0.72013	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.48767	D	0.000172	D	0.90971	0.7161	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93057	0.6471	10	0.87932	D	0	.	14.6188	0.68569	0.0:1.0:0.0:0.0	.	815	Q7Z2W4	ZCCHV_HUMAN	R	815;937	ENSP00000242351:G815R;ENSP00000418385:G937R	ENSP00000242351:G815R	G	-	1	0	ZC3HAV1	138388743	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.613000	0.67688	2.584000	0.87258	0.563000	0.77884	GGA	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348915.1		-	ENST00000242351.5	Missense_Mutation	SNP	7 : 138738203 - 138738203 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	413	11
ZDHHC5	25921	broad.mit.edu	37	11	57456082	57456082	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57456082G>A	ENST00000287169.3	+	4	1691	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	110						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCACCTGCCGCTTTTACCGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	93	100			NA	NA	11		NA											NA				57456082		2201	4296	6497	SO:0001583	missense			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599	25921	25921		Zinc fingers, DHHC-type	18472	protein-coding gene	gene with protein product		614586			NA	11214970	Standard	NM_015457	NM_015457	NA	Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.329G>A	11.37:g.57456082G>A	ENSP00000287169:p.Arg110His	NA	Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389594	0.25118	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842;ENST00000529447	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.02	4.11	0.48088	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	N	0.01809	-0.71	0.80722	D	1	B	0.26445	0.149	B	0.27076	0.076	T	0.79557	-0.1754	10	0.13470	T	0.59	-5.0695	9.536	0.39222	0.1612:0.0:0.8388:0.0	.	110	Q9C0B5	ZDHC5_HUMAN	H	57;110;8;8;36	ENSP00000432202:R57H;ENSP00000287169:R110H;ENSP00000431209:R8H;ENSP00000435593:R8H;ENSP00000435722:R36H	ENSP00000287169:R110H	R	+	2	0	ZDHHC5	57212658	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	4.362000	0.59467	1.355000	0.45865	0.561000	0.74099	CGC	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393694.1		+	ENST00000287169.3	Missense_Mutation	SNP	11 : 57456082 - 57456082 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	303	5
ZFHX3	463	broad.mit.edu	37	16	72828136	72828136	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72828136G>T	ENST00000268489.5	-	9	9117	c.8445C>A	c.(8443-8445)agC>agA	p.S2815R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2815					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACATGGAGGGGCTTTCAAAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	113	115			NA	NA	16		NA											NA				72828136		2198	4300	6498	SO:0001583	missense			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8445C>A	16.37:g.72828136G>T	ENSP00000268489:p.Ser2815Arg	NA	D3DWS8|O15101|Q13719	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551346	0.13374	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74421	-0.84;-0.81	5.96	3.78	0.43462	.	0.000000	0.64402	D	0.000013	T	0.76926	0.4056	L	0.44542	1.39	0.51482	D	0.999926	D	0.76494	0.999	D	0.80764	0.994	T	0.73506	-0.3961	10	0.30854	T	0.27	.	6.6486	0.22949	0.365:0.0:0.635:0.0	.	2815	Q15911	ZFHX3_HUMAN	R	2815;1901	ENSP00000268489:S2815R;ENSP00000438926:S1901R	ENSP00000268489:S2815R	S	-	3	2	ZFHX3	71385637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.411000	0.34702	1.459000	0.47892	0.650000	0.86243	AGC	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Missense_Mutation	SNP	16 : 72828136 - 72828136 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	413	7
ZFHX3	463	broad.mit.edu	37	16	72992317	72992317	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72992317G>A	ENST00000268489.5	-	2	2400	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	576					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCCCTGACGCCCTCACTGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	95	96			NA	NA	16		NA											NA				72992317		2198	4300	6498	SO:0001819	synonymous_variant			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	463	463		Zinc fingers, C2H2-type, Homeoboxes / ZF class	777	protein-coding gene	gene with protein product		104155	AT-binding transcription factor 1	ATBF1	NA	1719379, 7592926	Standard	NM_006885	NM_006885	NA	Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1728C>T	16.37:g.72992317G>A		NA	D3DWS8|O15101|Q13719	37	CCDS10908.1																																																																																			ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269008.1		-	ENST00000268489.5	Silent	SNP	16 : 72992317 - 72992317 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	317	108
ZIC2	7546	broad.mit.edu	37	13	100635062	100635062	+	Silent	SNP	G	G	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:100635062G>C	ENST00000376335.3	+	1	1037	c.744G>C	c.(742-744)cgG>cgC	p.R248R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	248	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTATATGCGGCAGCAGTGCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(97;119 1522 31925 44771 48764)							NA				0													75	79	77			NA	NA	13		NA											NA				100635062		2203	4300	6503	SO:0001819	synonymous_variant			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355	7546	7546		Zinc fingers, C2H2-type	12873	protein-coding gene	gene with protein product	Zinc finger protein of the cerebellum 2	603073	Zic family member 2 (odd-paired Drosophila homolog), Zic family member 2 (odd-paired homolog, Drosophila)		NA	9771712	Standard	NM_007129	NM_007129	NA	Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.744G>C	13.37:g.100635062G>C		NA	Q5VYA9|Q9H309	37	CCDS9495.1																																																																																			ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045618.2		+	ENST00000376335.3	Silent	SNP	13 : 100635062 - 100635062 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	491	13
ZNF142	7701	broad.mit.edu	37	2	219507561	219507561	+	Silent	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:219507561G>A	ENST00000449707.1	-	8	4099	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G	ZNF142_ENST00000411696.2_Silent_p.G1226G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGGATGCGGCCAATGCCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(170;867 1942 8995 15834 18053)							NA				0													93	105	101			NA	NA	2		NA											NA				219507561		2139	4234	6373	SO:0001819	synonymous_variant			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568	7701	7701		Zinc fingers, C2H2-type	12927	protein-coding gene	gene with protein product		604083	zinc finger protein 142 (clone pHZ-49)		NA		Standard	NM_005081	NM_001105537	NA	Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3678C>T	2.37:g.219507561G>A		NA	Q92510	37	CCDS42817.1																																																																																			ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336833.1		-	ENST00000449707.1	Silent	SNP	2 : 219507561 - 219507561 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	702	6
ZNF385D	79750	broad.mit.edu	37	3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGGTGGACGGACAAGGGC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	73			NA	NA	3		NA											NA				21706481		2203	4300	6503	SO:0001583	missense			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789	79750	79750			26191	protein-coding gene	gene with protein product			zinc finger protein 659	ZNF659	NA	12477932	Standard	NM_024697	NM_024697	NA	Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.62G>A	3.37:g.21706481C>T	ENSP00000281523:p.Arg21His	NA		37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106592	0.56291	.	.	ENSG00000151789	ENST00000281523	T	0.33654	1.4	5.62	4.75	0.60458	.	0.129051	0.52532	N	0.000066	T	0.35189	0.0923	L	0.55481	1.735	0.38752	D	0.954131	B	0.09022	0.002	B	0.04013	0.001	T	0.23048	-1.0199	10	0.51188	T	0.08	-8.954	13.2857	0.60241	0.0:0.924:0.0:0.076	.	21	Q9H6B1	Z385D_HUMAN	H	21	ENSP00000281523:R21H	ENSP00000281523:R21H	R	-	2	0	ZNF385D	21681485	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.054000	0.57434	1.376000	0.46267	0.591000	0.81541	CGT	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252884.1		-	ENST00000281523.2	Missense_Mutation	SNP	3 : 21706481 - 21706481 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	221	52
ZNF483	158399	broad.mit.edu	37	9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423		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)											80	91	87			NA	NA	9		NA											NA				114304261		2203	4299	6502	SO:0001583	missense			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258	158399	158399		Zinc fingers, C2H2-type, -, -, -	23384	protein-coding gene	gene with protein product					NA		Standard	XM_088567	NM_001007169	NA	Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1046G>A	9.37:g.114304261G>A	ENSP00000311679:p.Arg349His	NA	Q5VZN2	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053641.1		+	ENST00000309235.5	Missense_Mutation	SNP	9 : 114304261 - 114304261 A PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	541	6
ZNF546	339327	broad.mit.edu	37	19	40520557	40520557	+	Silent	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:40520557T>C	ENST00000347077.4	+	7	1596	c.1380T>C	c.(1378-1380)caT>caC	p.H460H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.H434H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCGGCATCATAGAACTCATA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	19		NA											NA				40520557		2203	4300	6503	SO:0001819	synonymous_variant			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187	339327	339327		Zinc fingers, C2H2-type, -	28671	protein-coding gene	gene with protein product				ZNF49	NA	12477932	Standard	NM_178544	XM_005258853	NA	Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1380T>C	19.37:g.40520557T>C		NA	A8K913	37	CCDS12548.1																																																																																			ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462495.2		+	ENST00000347077.4	Silent	SNP	19 : 40520557 - 40520557 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	295	110
ZNF585A	199704	broad.mit.edu	37	19	37643141	37643141	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:37643141C>T	ENST00000356958.4	-	5	1918	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E499K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATTCGTGGCATTCA	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)	breast(1)											60	61	61			NA	NA	19		NA											NA				37643141		2203	4297	6500	SO:0001583	missense			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967	199704	199704		Zinc fingers, C2H2-type, -	26305	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152655	NM_199126	NA	Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1660G>A	19.37:g.37643141C>T	ENSP00000349440:p.Glu554Lys	NA	Q8TE95|Q96MV3	37		.	.	.	.	.	.	.	.	.	.	C	14.73	2.624049	0.46840	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.07327	3.2;3.2;3.2	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198022	0.24828	N	0.035278	T	0.19886	0.0478	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.01729	-1.1286	9	0.62326	D	0.03	.	12.9943	0.58638	0.0:1.0:0.0:0.0	.	554	Q6P3V2	Z585A_HUMAN	K	554;499;499	ENSP00000349440:E554K;ENSP00000292841:E499K;ENSP00000375998:E499K	ENSP00000292841:E499K	E	-	1	0	ZNF585A	42334981	0.000000	0.05858	0.499000	0.27577	0.833000	0.47200	0.153000	0.16323	1.621000	0.50320	0.650000	0.86243	GAA	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000457980.2		-	ENST00000356958.4	Missense_Mutation	SNP	19 : 37643141 - 37643141 T PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	674	119
ZNF626	199777	broad.mit.edu	37	19	20807353	20807353	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:20807353T>C	ENST00000601440.1	-	4	1476	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGAATTCTCCTATGTGTAGTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	19		NA											NA				20807353		2108	4259	6367	SO:0001583	missense			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171	199777	199777		Zinc fingers, C2H2-type, -	30461	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145297	NM_145297	NA	Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1330A>G	19.37:g.20807353T>C	ENSP00000469958:p.Arg444Gly	NA	Q8N8T4	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.713	-0.786488	0.02907	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50718	0.1632	L	0.58101	1.795	0.80722	D	1	B	0.23806	0.091	B	0.33121	0.158	T	0.49447	-0.8939	8	0.87932	D	0	.	3.5311	0.07777	0.0:0.0:0.4169:0.583	.	444	Q68DY1	ZN626_HUMAN	G	444;368;444	.	ENSP00000445201:R444G	R	-	1	2	ZNF626	20599193	0.121000	0.22262	0.006000	0.13384	0.006000	0.05464	0.065000	0.14466	0.148000	0.19059	0.147000	0.16070	AGG	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447845.2		-	ENST00000601440.1	Missense_Mutation	SNP	19 : 20807353 - 20807353 C PAAD-TCGA-FB-A78T-Tumor-SM-4WPAZ	296	4
