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
A4GNT	51146	broad.mit.edu	37	3	137849964	137849964	+	Silent	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	45					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTGGCTCAGGAGGGCTTCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	83	82			NA	NA	3		NA											NA				137849964		2203	4300	6503	SO:0001819	synonymous_variant			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017	51146	51146			17968	protein-coding gene	gene with protein product					NA	10430883	Standard	NM_016161	NM_016161	NA	Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.135C>G	3.37:g.137849964G>C		NA	Q0VDK1|Q0VDK2	37	CCDS3097.1																																																																																			A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357557.1		-	ENST00000236709.3	Silent	SNP	3 : 137849964 - 137849964 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	435	70
ADAMTSL2	9719	broad.mit.edu	37	9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000393061.3	+	3	941	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	61					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	9		NA											NA				136402618		2203	4298	6501	SO:0001583	missense			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859	9719	9719			14631	protein-coding gene	gene with protein product		612277			NA	9628581, 14667842	Standard	NM_014694	NM_014694	NA	Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000393061.3:c.509G>A	9.37:g.136402618G>A	ENSP00000376781:p.Arg170His	NA	B1B0D5|O60345	37		.	.	.	.	.	.	.	.	.	.	G	32	5.156452	0.94686	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.52983	0.64;0.64;0.64	4.84	4.84	0.62591	.	0.000000	0.56097	U	0.000031	T	0.74496	0.3724	M	0.88704	2.975	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	10	0.87932	D	0	.	17.9259	0.88983	0.0:0.0:1.0:0.0	.	61	Q86TH1	ATL2_HUMAN	H	61;170;61	ENSP00000346478:R61H;ENSP00000376781:R170H;ENSP00000376780:R61H	ENSP00000346478:R61H	R	+	2	0	ADAMTSL2	135392439	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.401000	0.97294	2.229000	0.72834	0.491000	0.48974	CGC	ADAMTSL2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000254620.2		+	ENST00000393061.3	Missense_Mutation	SNP	9 : 136402618 - 136402618 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	313	54
AGBL1	123624	broad.mit.edu	37	15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	716					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAGATGTTCTCTGCCAGACG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	15		NA											NA				86838550		1968	4159	6127	SO:0001583	missense			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748	123624	123624			26504	protein-coding gene	gene with protein product	cytosolic carboxypeptidase 4	615496			NA	21074048, 24094747	Standard	NM_152336	NM_152336	NA	Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2147T>C	15.37:g.86838550T>C	ENSP00000413001:p.Leu716Pro	NA	A1A4X5|A6NJH6|C9JHL5	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040625	0.75732	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13307	2.6;2.6	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000003	T	0.50701	0.1631	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.66500	-0.5908	10	0.87932	D	0	-23.9349	13.6996	0.62599	0.0:0.0:0.0:1.0	.	415;447;716	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	745;716;447	ENSP00000397173:L716P;ENSP00000373949:L447P	ENSP00000373949:L447P	L	+	2	0	AGBL1	84639554	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	6.505000	0.73708	2.170000	0.68504	0.528000	0.53228	CTC	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314929.5		+	ENST00000441037.2	Missense_Mutation	SNP	15 : 86838550 - 86838550 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	284	10
AK7	122481	broad.mit.edu	37	14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	46					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGGGCTTCGCTTGAAGAAATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	100			NA	NA	14		NA											NA				96864443		2203	4300	6503	SO:0001583	missense			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057	122481	122481		Adenylate kinases	20091	protein-coding gene	gene with protein product		615364			NA		Standard		NM_152327	NA	Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.137T>G	14.37:g.96864443T>G	ENSP00000267584:p.Leu46Arg	NA	Q8IYP6	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934844	0.52866	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.59906	0.23	5.35	5.35	0.76521	.	0.410741	0.24182	N	0.040799	T	0.72771	0.3502	L	0.60455	1.87	0.54753	D	0.99998	B;D	0.89917	0.206;1.0	B;D	0.91635	0.043;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.42	14.9864	0.71351	0.0:0.0:0.0:1.0	.	46;46	Q96M32;G3V365	KAD7_HUMAN;.	R	46	ENSP00000267584:L46R	ENSP00000267584:L46R	L	+	2	0	AK7	95934196	0.996000	0.38824	0.290000	0.24890	0.970000	0.65996	5.104000	0.64584	2.044000	0.60594	0.402000	0.26972	CTT	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413340.1		+	ENST00000267584.4	Missense_Mutation	SNP	14 : 96864443 - 96864443 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	619	90
AKAP6	9472	broad.mit.edu	37	14	33291794	33291794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:33291794G>A	ENST00000280979.4	+	13	4945	c.4775G>A	c.(4774-4776)cGa>cAa	p.R1592Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1592	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCCTCCAGCGAAGCACTTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(49;821 1200 7288 13647 42351)							NA				0													75	78	77			NA	NA	14		NA											NA				33291794		2203	4299	6502	SO:0001583	missense			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320	9472	9472		A-kinase anchor proteins	376	protein-coding gene	gene with protein product	protein kinase A anchoring protein 6	604691			NA	7721854, 9205841	Standard	NM_004274	NM_004274	NA	Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4775G>A	14.37:g.33291794G>A	ENSP00000280979:p.Arg1592Gln	NA	A7E2D4|O15028	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344158	0.82022	.	.	ENSG00000151320	ENST00000280979	T	0.15834	2.39	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.25779	-1.0122	10	0.87932	D	0	-9.1931	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1592	Q13023	AKAP6_HUMAN	Q	1592	ENSP00000280979:R1592Q	ENSP00000280979:R1592Q	R	+	2	0	AKAP6	32361545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.335000	0.79234	2.843000	0.97960	0.650000	0.86243	CGA	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276617.2		+	ENST00000280979.4	Missense_Mutation	SNP	14 : 33291794 - 33291794 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	574	138
ALG9	79796	broad.mit.edu	37	11	111749420	111749420	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000524880.1	-	2	481	c.189C>T	c.(187-189)ttC>ttT	p.F63F	FDXACB1_ENST00000260257.4_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGTCCACACCGAAACGTACAT	0.458		NA									OREG0021330	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													35	34	35			NA	NA	11		NA											NA				111749420		1922	4123	6045	SO:0001819	synonymous_variant				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	79796	79796	2.4.1.259, 2.4.1.261	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	15672	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dol-P-Man dependent alpha-1,2-mannosyltransferase	606941	disrupted in bipolar affective disorder 1, asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase), asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase), asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)	DIBD1	NA	12030331, 15148656	Standard	NM_024740	NM_024740	NA	Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000524880.1:c.189C>T	11.37:g.111749420G>A		1437	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	37																																																																																				ALG9-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000413376.1		-	ENST00000524880.1	Silent	SNP	11 : 111749420 - 111749420 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	73	3
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				9	Substitution - Missense(9)	kidney(6)|lung(3)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501	400986	400986		Ankyrin repeat domain containing	32946	protein-coding gene	gene with protein product	protein immuno-reactive with anti-PTH polyclonal antibodies				NA		Standard	NM_001010914	XR_251121	NA	Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	NA		37		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338799.2		-	ENST00000456556.1	Missense_Mutation	SNP	2 : 96521777 - 96521777 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	235	12
APOL5	80831	broad.mit.edu	37	22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGGAGACAGGCCCCGGGAAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	22		NA											NA				36124922		2203	4300	6503	SO:0001583	missense			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313	80831	80831		Apolipoproteins	14869	protein-coding gene	gene with protein product		607255			NA	11374903	Standard	NM_030642	NM_030642	NA	Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1279G>A	22.37:g.36124922G>A	ENSP00000249044:p.Ala427Thr	NA	Q5TFL9|Q9UGW5	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555711	0.65425	.	.	ENSG00000128313	ENST00000249044	T	0.05139	3.49	2.28	1.18	0.20946	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.42155	-0.9468	9	0.87932	D	0	.	2.8292	0.05495	0.5743:0.0:0.4257:0.0	.	427	Q9BWW9	APOL5_HUMAN	T	427	ENSP00000249044:A427T	ENSP00000249044:A427T	A	+	1	0	APOL5	34454868	0.002000	0.14202	0.057000	0.19452	0.873000	0.50193	1.096000	0.30976	0.380000	0.24823	0.430000	0.28490	GCC	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318979.1		+	ENST00000249044.2	Missense_Mutation	SNP	22 : 36124922 - 36124922 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	290	7
ARHGEF37	389337	broad.mit.edu	37	5	149001460	149001460	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	390	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGAGGAGGCCGCCCGGCACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	76	72			NA	NA	5		NA											NA				149001460		2097	4214	6311	SO:0001819	synonymous_variant			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111	389337	389337		Rho guanine nucleotide exchange factors	34430	protein-coding gene	gene with protein product					NA		Standard	NM_001001669	XM_005268448	NA	Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1170C>T	5.37:g.149001460C>T		NA	Q6ZW51	37	CCDS43385.1																																																																																			ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373763.1		+	ENST00000333677.6	Silent	SNP	5 : 149001460 - 149001460 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	411	36
ASB1	51665	broad.mit.edu	37	2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000409297.1	+	2	205	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000264607.4_Nonsense_Mutation_p.Y46*			Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	153					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGCAGCTTACGTCGGGGACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	61	63			NA	NA	2		NA											NA				239342283		2203	4300	6503	SO:0001587	stop_gained			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802	51665	51665		Ankyrin repeat domain containing	16011	protein-coding gene	gene with protein product		605758	ankyrin repeat and SOCS box-containing 1		NA		Standard	NM_001040445	XR_241235	NA	Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000409297.1:c.138C>G	2.37:g.239342283C>G	ENSP00000387025:p.Tyr46*	NA	A6NL50|Q4ZG29|Q9ULS4	37		.	.	.	.	.	.	.	.	.	.	C	35	5.436599	0.96168	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	.	.	.	5.49	0.519	0.17035	.	0.253973	0.41823	D	0.000807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4737	0.38858	0.0:0.574:0.0:0.426	.	.	.	.	X	46	.	ENSP00000264607:Y46X	Y	+	3	2	ASB1	239007022	0.656000	0.27385	0.998000	0.56505	0.974000	0.67602	-0.326000	0.07965	0.037000	0.15575	-0.258000	0.10820	TAC	ASB1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328297.1		+	ENST00000409297.1	Nonsense_Mutation	SNP	2 : 239342283 - 239342283 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	226	6
ASB9	140462	broad.mit.edu	37	X	15266898	15266898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000380488.4	-	6	1001	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.S243N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	243	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GGCCAAGGGGCTCTCTGGAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	71	73			NA	NA	X		NA											NA				15266898		2203	4300	6503	SO:0001583	missense			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048	140462	140462		Ankyrin repeat domain containing	17184	protein-coding gene	gene with protein product		300890	ankyrin repeat and SOCS box-containing 9		NA	12076535	Standard		NM_001031739	NA	Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.728G>A	X.37:g.15266898C>T	ENSP00000369855:p.Ser243Asn	NA	A8K8A5|Q9NWS5|Q9Y4T3	37	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.967	0.548435	0.13312	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	0.99;-0.17;-0.12;-0.17	5.78	1.15	0.20763	.	0.332697	0.42682	N	0.000673	T	0.47967	0.1474	L	0.39467	1.215	0.09310	N	1	B;B;B;B	0.24576	0.035;0.003;0.051;0.106	B;B;B;B	0.28139	0.019;0.005;0.086;0.063	T	0.35649	-0.9780	10	0.40728	T	0.16	-4.9969	6.2251	0.20703	0.0:0.6104:0.1283:0.2613	.	214;233;243;243	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	N	233;243;243;243	ENSP00000369850:S233N;ENSP00000369852:S243N;ENSP00000369855:S243N;ENSP00000438943:S243N	ENSP00000369850:S233N	S	-	2	0	ASB9	15176819	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.883000	0.28200	-0.105000	0.12132	-0.191000	0.12829	AGC	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055844.1		-	ENST00000380488.4	Missense_Mutation	SNP	X : 15266898 - 15266898 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	451	84
ASB9	140462	broad.mit.edu	37	X	15266926	15266926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000380488.4	-	6	973	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.R234C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	234					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TCCACAGGACGTTTGCCTTCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	77	81			NA	NA	X		NA											NA				15266926		2203	4300	6503	SO:0001583	missense			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048	140462	140462		Ankyrin repeat domain containing	17184	protein-coding gene	gene with protein product		300890	ankyrin repeat and SOCS box-containing 9		NA	12076535	Standard		NM_001031739	NA	Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.700C>T	X.37:g.15266926G>A	ENSP00000369855:p.Arg234Cys	NA	A8K8A5|Q9NWS5|Q9Y4T3	37	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580533	0.28180	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.92	4.17	0.49024	Ankyrin repeat-containing domain (3);	0.273432	0.42420	N	0.000717	T	0.41328	0.1154	L	0.54965	1.715	0.49483	D	0.999798	B;B;B;B	0.29188	0.236;0.05;0.03;0.157	B;B;B;B	0.29598	0.104;0.019;0.012;0.026	T	0.29941	-0.9995	10	0.62326	D	0.03	-10.1573	7.8005	0.29172	0.1464:0.0:0.7222:0.1313	.	205;224;234;234	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	224;234;234;234	ENSP00000369850:R224C;ENSP00000369852:R234C;ENSP00000369855:R234C;ENSP00000438943:R234C	ENSP00000369850:R224C	R	-	1	0	ASB9	15176847	0.993000	0.37304	0.143000	0.22291	0.565000	0.35776	1.270000	0.33086	0.638000	0.30545	-0.208000	0.12717	CGT	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055844.1		-	ENST00000380488.4	Missense_Mutation	SNP	X : 15266926 - 15266926 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	412	77
ASPM	259266	broad.mit.edu	37	1	197071382	197071382	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCTGTGCATCTCTCGCATCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	137	141			NA	NA	1		NA											NA				197071382		2203	4300	6503	SO:0001819	synonymous_variant			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6999G>A	1.37:g.197071382C>T		NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1																																																																																			ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Silent	SNP	1 : 197071382 - 197071382 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	593	116
CACNA1A	773	broad.mit.edu	37	19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	895					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGTAGGGTCCCTCCCGGCTCA	0.771		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													6	7	7			NA	NA	19		NA											NA				13409765		1767	3894	5661	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2682G>T	19.37:g.13409765C>A	ENSP00000353362:p.Glu894Asp	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944677	0.18356	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	4.22	1.84	0.25277	.	4.895700	0.00541	N	0.000225	D	0.94948	0.8366	L	0.34521	1.04	0.20703	N	0.999864	B;P;D	0.58268	0.0;0.729;0.982	B;B;D	0.67548	0.001;0.21;0.952	D	0.86068	0.1536	10	0.21540	T	0.41	.	2.0266	0.03520	0.2518:0.3677:0.0:0.3805	.	895;898;894	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	894;898;895;895	ENSP00000353362:E894D	ENSP00000317661:E895D	E	-	3	2	CACNA1A	13270765	0.044000	0.20184	0.901000	0.35422	0.017000	0.09413	-0.312000	0.08113	0.768000	0.33290	-0.481000	0.04817	GAG	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13409765 - 13409765 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	69	15
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	113	116			NA	NA	16		NA											NA				24372859		2197	4300	6497	SO:0001583	missense			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116	10368	10368		Calcium channel subunits	1407	protein-coding gene	gene with protein product		606403			NA	10221464, 10493829	Standard	NM_006539	NM_006539	NA	Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.623G>A	16.37:g.24372859G>A	ENSP00000005284:p.Arg208Gln	NA		37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189450	0.94923	.	.	ENSG00000006116	ENST00000005284	T	0.81163	-1.46	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87820	0.2637	10	0.32370	T	0.25	-7.4112	17.8423	0.88718	0.0:0.0:1.0:0.0	.	208	O60359	CCG3_HUMAN	Q	208	ENSP00000005284:R208Q	ENSP00000005284:R208Q	R	+	2	0	CACNG3	24280360	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGA	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254548.1		+	ENST00000005284.3	Missense_Mutation	SNP	16 : 24372859 - 24372859 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	716	76
CCDC81	60494	broad.mit.edu	37	11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000445632.2	+	14	2058	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	596										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GATGAAGAAGCAGCGAGACCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	113	121			NA	NA	11		NA											NA				86131064		2202	4299	6501	SO:0001587	stop_gained			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201	60494	60494			26281	protein-coding gene	gene with protein product					NA		Standard	NM_021827	NM_001156474	NA	Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1786C>T	11.37:g.86131064C>T	ENSP00000415528:p.Gln596*	NA	A0AVL7|Q53FW3|Q9H5E5	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	47	13.881331	0.99768	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.69	5.69	0.88448	.	0.208392	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0404	17.2949	0.87168	0.0:1.0:0.0:0.0	.	.	.	.	X	506;331;596;331	.	.	Q	+	1	0	CCDC81	85808712	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.566000	0.45948	2.685000	0.91497	0.555000	0.69702	CAG	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393756.1		+	ENST00000445632.2	Nonsense_Mutation	SNP	11 : 86131064 - 86131064 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	390	69
CCSER2	54462	broad.mit.edu	37	10	86131917	86131917	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:86131917A>T	ENST00000224756.8	+	2	1294	c.1109A>T	c.(1108-1110)aAt>aTt	p.N370I	CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2			coiled-coil serine-rich protein 2	NA											NA						CTGATTGAAAATGAAAGTTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	10		NA											NA				86131917		2203	4300	6503	SO:0001583	missense				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771	54462	54462			29197	protein-coding gene	gene with protein product			KIAA1128, family with sequence similarity 190, member B	KIAA1128, FAM190B	NA	10574461	Standard	NM_018999	XM_005269905	NA	Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1109A>T	10.37:g.86131917A>T	ENSP00000224756:p.Asn370Ile	NA		37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699591	0.48307	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50001	0.76;2.1;2.08	5.73	5.73	0.89815	.	0.239465	0.36665	N	0.002479	T	0.57814	0.2079	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.992	D;P;P	0.65010	0.931;0.837;0.839	T	0.61382	-0.7074	10	0.72032	D	0.01	-21.1188	8.5083	0.33201	0.9147:0.0:0.0853:0.0	.	370;370;370	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	I	370	ENSP00000353068:N370I;ENSP00000224756:N370I;ENSP00000361160:N370I	ENSP00000224756:N370I	N	+	2	0	FAM190B	86121897	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.214000	0.51161	2.197000	0.70478	0.533000	0.62120	AAT	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049132.2		+	ENST00000224756.8	Missense_Mutation	SNP	10 : 86131917 - 86131917 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	558	120
CCT8L2	150160	broad.mit.edu	37	22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	127					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCGAGGCAGGCCAGCCTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	40	42			NA	NA	22		NA											NA				17073061		2203	4300	6503	SO:0001583	missense			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445	150160	150160			15553	protein-coding gene	gene with protein product					NA		Standard		NM_014406	NA	Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.380T>A	22.37:g.17073061A>T	ENSP00000353048:p.Leu127Gln	NA	A4QPH3|Q9UJS3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	11.60	1.688445	0.29962	.	.	ENSG00000198445	ENST00000359963	T	0.80909	-1.43	2.0	2.0	0.26442	.	0.000000	0.29073	U	0.013223	D	0.86969	0.6061	M	0.80982	2.52	0.34168	D	0.669424	D	0.89917	1.0	D	0.83275	0.996	D	0.87908	0.2695	10	0.87932	D	0	-12.4381	5.9541	0.19263	1.0:0.0:0.0:0.0	.	127	Q96SF2	TCPQM_HUMAN	Q	127	ENSP00000353048:L127Q	ENSP00000353048:L127Q	L	-	2	0	CCT8L2	15453061	1.000000	0.71417	0.739000	0.30968	0.152000	0.21847	3.227000	0.51262	0.930000	0.37217	0.324000	0.21423	CTG	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280580.1		-	ENST00000359963.3	Missense_Mutation	SNP	22 : 17073061 - 17073061 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	212	40
CECR2	27443	broad.mit.edu	37	22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000400585.2	+	9	1057				CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400573.5_Intron|CECR2_ENST00000262608.8_Missense_Mutation_p.R346H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	NA					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGACCAGCCGTCCTGTAGCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	61	58			NA	NA	22		NA											NA				18003349		2143	4241	6384	SO:0001627	intron_variant			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954	27443	27443			1840	protein-coding gene	gene with protein product		607576			NA	11381032	Standard	NM_031413	XM_006724077	NA	Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.619+52G>A	22.37:g.18003349G>A		NA	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	37		.	.	.	.	.	.	.	.	.	.	G	4.349	0.064200	0.08388	.	.	ENSG00000099954	ENST00000342247;ENST00000262608	T;T	0.25414	2.08;1.8	3.24	-6.48	0.01896	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	8	.	.	.	.	2.4034	0.04407	0.5132:0.1197:0.1998:0.1673	.	387;359	Q9BXF3;Q9BXF3-2	CECR2_HUMAN;.	H	317;346	ENSP00000341219:R317H;ENSP00000262608:R346H	.	R	+	2	0	CECR2	16383349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.710000	0.00387	-2.277000	0.00677	-2.302000	0.00260	CGT	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000316226.2		+	ENST00000400585.2	Intron	SNP	22 : 18003349 - 18003349 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	43	9
CSMD2	114784	broad.mit.edu	37	1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373380.1	-	22	3495	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373381.4_Missense_Mutation_p.R2219H|CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2221	Sushi 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTTGAGGCGGACGCCATG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	69	70	70		6662	-3.3	0.7	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	2221/3488	34068023	1,13005	2203	4300	6503	SO:0001583	missense			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3275G>A	1.37:g.34068023C>T	ENSP00000362478:p.Arg1092His	NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	C	11.50	1.657455	0.29425	0.0	1.16E-4	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.28	-3.3	0.05003	CUB (5);	0.777035	0.12272	N	0.483686	T	0.07773	0.0195	N	0.16478	0.41	0.26223	N	0.979134	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.39375	-0.9617	10	0.18710	T	0.47	.	7.3106	0.26473	0.1403:0.1536:0.0:0.7061	.	1092;2221;2219	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	2219;1092;318;318	ENSP00000362479:R2219H;ENSP00000362478:R1092H;ENSP00000362475:R318H;ENSP00000362486:R318H	ENSP00000241312:R2221H	R	-	2	0	CSMD2	33840610	0.246000	0.23909	0.678000	0.29963	0.858000	0.48976	0.231000	0.17872	-0.459000	0.07013	-0.143000	0.13931	CGC	CSMD2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000030635.4		-	ENST00000373380.1	Missense_Mutation	SNP	1 : 34068023 - 34068023 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	240	45
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373917	+	Silent	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:11373917C>G	ENST00000528848.2	-	1	987	c.750G>C	c.(748-750)ggG>ggC	p.G250G	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide	NA											NA						AATCTTCTGTCCCCAGAAACT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598	283106	283106			2458	protein-coding gene	gene with protein product			casein kinase 2, alpha 1 polypeptide pseudogene	CSNK2A1P	NA	12102635, 1610905, 20625391	Standard	NM_001256686	NM_001256686	NA	Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.750G>C	11.37:g.11373917C>G		NA		37	CCDS59224.1																																																																																			CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385850.3		-	ENST00000528848.2	Silent	SNP	11 : 11373917 - 11373917 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	698	86
CXorf21	80231	broad.mit.edu	37	X	30578132	30578132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	114										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCAAGAAGATGGAACCAAGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	98	98			NA	NA	X		NA											NA				30578132		2202	4300	6502	SO:0001583	missense			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280	80231	80231			25667	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025159	NM_025159	NA	Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.341C>A	X.37:g.30578132G>T	ENSP00000368245:p.Pro114Gln	NA		37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515532	0.64634	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.94	4.05	0.47172	.	0.000000	0.64402	D	0.000005	T	0.75221	0.3820	M	0.66939	2.045	0.52501	D	0.999955	D	0.89917	1.0	D	0.81914	0.995	T	0.76934	-0.2775	9	0.54805	T	0.06	-14.154	12.9145	0.58199	0.0824:0.0:0.9176:0.0	.	114	Q9HAI6	CX021_HUMAN	Q	114	.	ENSP00000368245:P114Q	P	-	2	0	CXorf21	30488053	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.264000	0.78432	2.279000	0.76181	0.422000	0.28245	CCA	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056164.1		-	ENST00000378962.3	Missense_Mutation	SNP	X : 30578132 - 30578132 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	730	155
CXorf22	170063	broad.mit.edu	37	X	35989882	35989882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	717										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCTGTGAGAAGAAAGGCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	49	51			NA	NA	X		NA											NA				35989882		2202	4300	6502	SO:0001583	missense			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164	170063	170063			28546	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152632	NM_152632	NA	Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2150G>A	X.37:g.35989882G>A	ENSP00000297866:p.Arg717Lys	NA	Q5JRM8|Q8N6X8	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793016	0.00623	.	.	ENSG00000165164	ENST00000297866	T	0.13307	2.6	5.6	-7.87	0.01183	.	1.479880	0.03603	N	0.233690	T	0.05547	0.0146	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.06365	T	0.9	-14.1458	12.5433	0.56184	0.7855:0.1024:0.1122:0.0	.	717	Q6ZTR5	CX022_HUMAN	K	717	ENSP00000297866:R717K	ENSP00000297866:R717K	R	+	2	0	CXorf22	35899803	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.217000	0.02979	-1.390000	0.02087	-0.190000	0.12839	AGA	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056216.2		+	ENST00000297866.5	Missense_Mutation	SNP	X : 35989882 - 35989882 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	371	74
DAAM1	23002	broad.mit.edu	37	14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	161	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTATCATGTATCCTCAACTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	141	143			NA	NA	14		NA											NA				59789651		2203	4300	6503	SO:0001583	missense			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592	23002	23002			18142	protein-coding gene	gene with protein product		606626			NA	11779461, 18162551	Standard	NM_014992	NM_014992	NA	Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.482T>G	14.37:g.59789651T>G	ENSP00000378557:p.Ile161Ser	NA	Q86U34|Q8N1Z8|Q8TB39	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954100	0.73902	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89050	-2.46;-2.46;-2.46	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	L	0.44542	1.39	0.80722	D	1	D;D	0.54207	0.957;0.965	P;P	0.55749	0.677;0.783	D	0.91609	0.5301	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	161;161	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	161	ENSP00000354162:I161S;ENSP00000247170:I161S;ENSP00000378557:I161S	ENSP00000247170:I161S	I	+	2	0	DAAM1	58859404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATC	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276942.2		+	ENST00000395125.1	Missense_Mutation	SNP	14 : 59789651 - 59789651 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	559	111
DAB2IP	153090	broad.mit.edu	37	9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGCCTGAGGCAGCAGTCCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	9		NA											NA				124535711		2198	4297	6495	SO:0001583	missense			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848	153090	153090			17294	protein-coding gene	gene with protein product	nGAP-like protein, DOC-2/DAB2 interactive protein, ASK-interacting protein, ASK1-interacting protein 1	609205			NA	11944990, 11812785	Standard	NM_032552	XM_005251721	NA	Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2904G>T	9.37:g.124535711G>T	ENSP00000386183:p.Arg968Ser	NA	A6H8V2|A6NHI9|B0QZB1|Q8TDL2|Q96SE1|Q9C0C0	37		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397162	0.25205	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.7	3.73	0.42828	.	0.237534	0.39759	N	0.001274	T	0.17534	0.0421	L	0.53561	1.675	0.46954	D	0.999269	B;P	0.35033	0.271;0.481	B;B	0.42738	0.079;0.396	T	0.03852	-1.0998	10	0.13108	T	0.6	.	13.3473	0.60582	0.0:0.1591:0.8409:0.0	.	968;940	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	S	940;968;877;844	ENSP00000259371:R940S;ENSP00000386183:R968S;ENSP00000362887:R877S;ENSP00000310827:R844S	ENSP00000259371:R940S	R	+	3	2	DAB2IP	123575532	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.058000	0.30504	2.169000	0.68431	0.313000	0.20887	AGG	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000317857.1		+	ENST00000408936.3	Missense_Mutation	SNP	9 : 124535711 - 124535711 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	80	14
DDX31	64794	broad.mit.edu	37	9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000372153.1_Missense_Mutation_p.R691T|DDX31_ENST00000438527.3_Missense_Mutation_p.R635T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	764						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGTGCTTTCCTCTTCTTTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	181	197			NA	NA	9		NA											NA				135487492		2203	4300	6503	SO:0001583	missense			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485	64794	64794		DEAD-boxes, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	16715	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 25		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31		NA		Standard	NM_138620	NM_022779	NA	Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2291G>C	9.37:g.135487492C>G	ENSP00000361232:p.Arg764Thr	NA	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719394	0.30503	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03717	4.33;3.83;4.29	5.84	-2.42	0.06542	.	0.976044	0.08418	N	0.948855	T	0.03434	0.0099	L	0.38175	1.15	0.80722	D	1	B;B	0.20671	0.047;0.04	B;B	0.15484	0.013;0.008	T	0.34601	-0.9822	10	0.34782	T	0.22	-5.4579	8.5087	0.33204	0.0:0.2988:0.1156:0.5855	.	691;764	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	T	764;691;635	ENSP00000361232:R764T;ENSP00000361226:R691T;ENSP00000387730:R635T	ENSP00000361226:R691T	R	-	2	0	DDX31	134477313	0.449000	0.25689	0.028000	0.17463	0.076000	0.17211	-0.315000	0.08081	-0.512000	0.06505	-0.768000	0.03414	AGG	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054794.1		-	ENST00000372159.3	Missense_Mutation	SNP	9 : 135487492 - 135487492 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	844	150
DLGAP2	9228	broad.mit.edu	37	8	1497384	1497384	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	254					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCAACGCCAACGGCACCAAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		6,4336		0,6,2165	14	21	19		525	-4.4	0	8		19	1,8561		0,1,4280	no	coding-synonymous	DLGAP2	NM_004745.3		0,7,6445	TT,TC,CC	NA	0.0117,0.1382,0.0542		175/976	1497384	7,12897	2171	4281	6452	SO:0001819	synonymous_variant			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.525C>T	8.37:g.1497384C>T		NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	1.430	-0.570388	0.03910	0.001382	1.17E-4	ENSG00000198010	ENST00000520901	.	.	.	5.57	-4.39	0.03611	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63377	-0.6651	4	.	.	.	-13.2071	15.0453	0.71822	0.0:0.285:0.0:0.715	.	.	.	.	M	192	.	.	T	+	2	0	DLGAP2	1484791	0.085000	0.21516	0.019000	0.16419	0.196000	0.23810	-0.644000	0.05415	-0.909000	0.03852	-0.783000	0.03347	ACG	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1		+	ENST00000421627.2	Silent	SNP	8 : 1497384 - 1497384 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	75	20
DMD	1756	broad.mit.edu	37	X	31198512	31198512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3354	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACCATGGGATAGTGCATTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	109	115			NA	NA	X		NA											NA				31198512		2202	4300	6502	SO:0001583	missense			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10061A>T	X.37:g.31198512T>A	ENSP00000354923:p.Tyr3354Phe	NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417414	0.83449	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.03	3.8	0.43715	Zinc finger, ZZ-type (1);	0.000000	0.32372	U	0.006187	D	0.92590	0.7646	M	0.83953	2.67	0.58432	D	0.999999	B;D;D;B;D;D;D;D;D;D;D;D;D;D;P;D	0.89917	0.002;0.957;0.997;0.06;0.997;0.997;0.995;0.996;0.996;0.999;0.999;1.0;0.974;0.985;0.743;0.997	B;P;D;B;D;D;D;D;D;D;D;D;D;P;P;D	0.80764	0.003;0.754;0.97;0.018;0.97;0.97;0.962;0.917;0.917;0.986;0.994;0.986;0.969;0.871;0.493;0.97	D	0.92983	0.6408	10	0.87932	D	0	.	10.1983	0.43067	0.1502:0.0:0.0:0.8498	.	286;3346;3354;3350;2013;2010;894;894;894;894;894;3231;286;286;286;286	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	F	3346;2013;2010;286;1050;3350;3354;894;894;3354;3231;894;894;286;894;286;286;144	ENSP00000367997:Y286F;ENSP00000350765:Y1050F;ENSP00000367948:Y3350F;ENSP00000354923:Y3354F;ENSP00000352894:Y894F;ENSP00000340057:Y894F;ENSP00000367979:Y894F;ENSP00000444119:Y894F;ENSP00000367974:Y286F;ENSP00000417123:Y894F;ENSP00000354464:Y286F;ENSP00000367951:Y286F;ENSP00000367977:Y144F	ENSP00000340057:Y894F	Y	-	2	0	DMD	31108433	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.825000	0.86693	1.868000	0.54150	0.441000	0.28932	TAT	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Missense_Mutation	SNP	X : 31198512 - 31198512 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	409	16
DNAH17	8632	broad.mit.edu	37	17	76571032	76571032	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000585328.1	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000389840.5_Silent_p.N36N	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGCCACGTTCTCCTCGG	0.587		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	LOWCOV	NA	NA	0.0088	SNP								NA				0								G		0,4168		0,0,2084	57	61	59		108	2.6	0.8	17		59	2,8426		0,2,4212	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6296	AA,AG,GG	NA	0.0237,0.0,0.0159		36/4463	76571032	2,12594	2084	4214	6298	SO:0001819	synonymous_variant			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.108C>T	17.37:g.76571032G>A		NA		37																																																																																				DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Silent	SNP	17 : 76571032 - 76571032 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	161	10
DNAH17	8632	broad.mit.edu	37	17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000585328.1	-	57	9077	c.8953T>C	c.(8953-8955)Ttc>Ctc	p.F2985L	DNAH17_ENST00000389840.5_Missense_Mutation_p.F2976L|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGACATGAAGAAGCTGATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	100	111			NA	NA	17		NA											NA				76459132		2203	4300	6503	SO:0001583	missense			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	8632	8632		Axonemal dyneins	2946	protein-coding gene	gene with protein product		610063	dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1	DNAHL1	NA	9545504	Standard	NM_173628	NM_173628	NA	Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8953T>C	17.37:g.76459132A>G	ENSP00000465516:p.Phe2985Leu	NA		37		.	.	.	.	.	.	.	.	.	.	A	25.9	4.688192	0.88639	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	4.91	4.91	0.64330	.	.	.	.	.	T	0.64283	0.2584	M	0.64676	1.99	0.47862	D	0.999534	.	.	.	.	.	.	T	0.67917	-0.5546	7	0.66056	D	0.02	.	14.2019	0.65710	1.0:0.0:0.0:0.0	.	.	.	.	L	2985;2976	ENSP00000374490:F2976L	ENSP00000300671:F2985L	F	-	1	0	DNAH17	73970727	1.000000	0.71417	0.940000	0.37924	0.747000	0.42532	8.838000	0.92115	1.847000	0.53656	0.454000	0.30748	TTC	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000318962.2		-	ENST00000585328.1	Missense_Mutation	SNP	17 : 76459132 - 76459132 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	193	48
DNAJC13	23317	broad.mit.edu	37	3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1187							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACCTGAAAAGTTTTCTGAGA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	3		NA											NA				132209833		2200	4296	6496	SO:0001583	missense			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246	23317	23317		Heat shock proteins / DNAJ (HSP40)	30343	protein-coding gene	gene with protein product		614334			NA	12438707	Standard	NM_015268	NM_015268	NA	Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3561G>T	3.37:g.132209833G>T	ENSP00000260818:p.Lys1187Asn	NA	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367442	0.61513	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.13	3.06	0.35304	Armadillo-type fold (1);	0.072208	0.56097	D	0.000039	T	0.27832	0.0685	M	0.72576	2.205	0.50467	D	0.999872	P	0.52577	0.954	P	0.47981	0.563	T	0.03829	-1.1000	10	0.46703	T	0.11	.	8.6112	0.33804	0.2823:0.0:0.7177:0.0	.	1187	O75165	DJC13_HUMAN	N	1187	ENSP00000260818:K1187N	ENSP00000260818:K1187N	K	+	3	2	DNAJC13	133692523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.013000	0.29937	1.166000	0.42689	0.591000	0.81541	AAG	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356807.2		+	ENST00000260818.6	Missense_Mutation	SNP	3 : 132209833 - 132209833 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	232	18
E2F3	1871	broad.mit.edu	37	6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	452	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGATGCTTACGATTTGGAAAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	120	121			NA	NA	6		NA											NA				20490617		2203	4300	6503	SO:0001583	missense			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242	1871	1871			3115	protein-coding gene	gene with protein product		600427			NA	8246996	Standard		NM_001949	NA	Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1354G>A	6.37:g.20490617G>A	ENSP00000262904:p.Asp452Asn	NA	Q15000|Q9BZ44	37	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.470974	0.84533	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.10288	2.89;3.01	5.79	5.79	0.91817	.	0.046857	0.85682	D	0.000000	T	0.21841	0.0526	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.57911	0.829	T	0.00379	-1.1777	10	0.66056	D	0.02	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	452	O00716	E2F3_HUMAN	N	115;452;321	ENSP00000262904:D452N;ENSP00000443418:D321N	ENSP00000262904:D452N	D	+	1	0	E2F3	20598596	1.000000	0.71417	0.941000	0.38009	0.685000	0.39939	9.476000	0.97823	2.746000	0.94184	0.561000	0.74099	GAT	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043828.1		+	ENST00000346618.3	Missense_Mutation	SNP	6 : 20490617 - 20490617 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	993	171
E4F1	1877	broad.mit.edu	37	16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	rs137969975		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	-	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693		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			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967	1877	1877		Zinc fingers, C2H2-type	3121	protein-coding gene	gene with protein product		603022			NA	9763670, 8828041	Standard	NM_004424	XM_005255155	NA	Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1383_1400delGCCGTTCGCCTGCGCGCA	16.37:g.2284179_2284196delGCCGTTCGCCTGCGCGCA	ENSP00000301727:p.Pro462_Gln467del	NA	A8K2R4|O00146	37	CCDS32370.1																																																																																			E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435225.1		+	ENST00000301727.4	In_Frame_Del	DEL	16 : 2284179 - 2284196 - PAAD-TCGA-IB-7652-Tumor-SM-2NW78	119	16
EGR1	1958	broad.mit.edu	37	5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	539					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCAGGACAATTGAAAT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	64	62			NA	NA	5		NA											NA				137803753		2203	4300	6503	SO:0001583	missense			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738	1958	1958		Zinc fingers, C2H2-type	3238	protein-coding gene	gene with protein product	nerve growth factor-induced protein A, transcription factor ETR103, zinc finger protein 225, early growth response protein 1	128990			NA	3127059	Standard	NM_001964	NM_001964	NA	Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1615A>G	5.37:g.137803753A>G	ENSP00000239938:p.Thr539Ala	NA		37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461456	0.43736	.	.	ENSG00000120738	ENST00000411801;ENST00000239938	T	0.10960	2.82	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58101	1.795	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	T	0.01375	-1.1371	10	0.87932	D	0	-6.6955	12.7025	0.57041	1.0:0.0:0.0:0.0	.	539	P18146	EGR1_HUMAN	A	196;539	ENSP00000239938:T539A	ENSP00000239938:T539A	T	+	1	0	EGR1	137831652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.536000	0.90627	1.781000	0.52344	0.533000	0.62120	ACA	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251274.1		+	ENST00000239938.4	Missense_Mutation	SNP	5 : 137803753 - 137803753 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	633	85
FAT2	2196	broad.mit.edu	37	5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2249	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCCCAGAGCTGTATCCGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	102	102			NA	NA	5		NA											NA				150923942		2203	4300	6503	SO:0001583	missense			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6746C>A	5.37:g.150923942G>T	ENSP00000261800:p.Ala2249Asp	NA	O75091|Q9NSR7	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261414	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.65080	0.2657	L	0.42008	1.315	0.47245	D	0.999369	D	0.89917	1.0	D	0.77557	0.99	T	0.57365	-0.7824	10	0.12103	T	0.63	.	13.0521	0.58960	0.0733:0.0:0.9267:0.0	.	2249	Q9NYQ8	FAT2_HUMAN	D	2249	ENSP00000261800:A2249D	ENSP00000261800:A2249D	A	-	2	0	FAT2	150904135	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.043000	0.71004	2.683000	0.91414	0.561000	0.74099	GCT	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Missense_Mutation	SNP	5 : 150923942 - 150923942 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	692	114
FAT4	79633	broad.mit.edu	37	4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3057	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTTTTTTATCACAGTCACTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	4		NA											NA				126371342		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9171C>G	4.37:g.126371342C>G	ENSP00000377862:p.Ile3057Met	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429562	0.04701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;1.95	5.53	3.77	0.43336	Cadherin (4);Cadherin-like (1);	0.250386	0.20094	U	0.099377	T	0.36082	0.0954	L	0.34521	1.04	0.31081	N	0.711959	B;B;B	0.20459	0.006;0.045;0.016	B;B;B	0.23716	0.005;0.048;0.019	T	0.41251	-0.9519	10	0.72032	D	0.01	.	1.0954	0.01672	0.1406:0.3872:0.2043:0.2679	.	1355;3057;3057	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3057;1355	ENSP00000377862:I3057M;ENSP00000335169:I1355M	ENSP00000335169:I1355M	I	+	3	3	FAT4	126590792	0.985000	0.35326	0.990000	0.47175	0.286000	0.27126	0.286000	0.18902	1.340000	0.45581	0.655000	0.94253	ATC	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126371342 - 126371342 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	397	8
FLG	2312	broad.mit.edu	37	1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	789	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCGAGACCTT	0.567		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													305	293	297			NA	NA	1		NA											NA				152284997		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2365C>T	1.37:g.152284997G>A	ENSP00000357789:p.Arg789Cys	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.373	0.254012	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.52	-0.503	0.12000	.	.	.	.	.	T	0.00906	0.0030	M	0.77820	2.39	0.09310	N	1	D	0.64830	0.994	B	0.40038	0.317	T	0.43245	-0.9403	9	0.62326	D	0.03	.	2.9569	0.05880	0.1583:0.0:0.4366:0.4051	.	789	P20930	FILA_HUMAN	C	789	ENSP00000357789:R789C	ENSP00000357789:R789C	R	-	1	0	FLG	150551621	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.133000	0.10451	-0.248000	0.09583	0.479000	0.44913	CGT	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152284997 - 152284997 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1782	40
FLNA	2316	broad.mit.edu	37	X	153577233	153577233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000344736.4	-	45	7850	c.7808G>A	c.(7807-7809)cGc>cAc	p.R2603H	FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H			P21333	FLNA_HUMAN	filamin A, alpha	2643	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCACAACGCGGTAGGGGCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	65	64			NA	NA	X		NA											NA				153577233		2061	4161	6222	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.7808G>A	X.37:g.153577233C>T	ENSP00000358863:p.Arg2603His	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	C	11.21	1.570226	0.28003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.74	3.7	0.42460	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062457	0.64402	D	0.000011	T	0.61022	0.2314	N	0.03948	-0.315	0.35918	D	0.831602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.001;0.001;0.013;0.013	T	0.53809	-0.8386	10	0.17832	T	0.49	.	2.1844	0.03882	0.0:0.3694:0.3076:0.323	.	776;2635;2643;2643	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	H	2635;2311;2635;2643;776;2603	ENSP00000353467:R2635H;ENSP00000416926:R2635H;ENSP00000358866:R2643H;ENSP00000358872:R776H;ENSP00000358863:R2603H	ENSP00000358863:R2603H	R	-	2	0	FLNA	153230427	0.644000	0.27277	0.766000	0.31476	0.858000	0.48976	1.084000	0.30828	1.172000	0.42781	0.529000	0.55759	CGC	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153577233 - 153577233 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	384	12
FLNB	2317	broad.mit.edu	37	3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000490882.1	+	36	6114	c.5949T>A	c.(5947-5949)tgT>tgA	p.C1983*	FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*	NM_001164317.1	NP_001157789.1	O75369	FLNB_HUMAN	filamin B, beta	1952	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGAGCCCTGTCTCCTGAAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	36	38			NA	NA	3		NA											NA				58134060		2203	4300	6503	SO:0001587	stop_gained			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068	2317	2317			3755	protein-coding gene	gene with protein product	actin binding protein 278	603381	filamin B, beta (actin binding protein 278), Larsen syndrome 1 (autosomal dominant)	FLN1L, LRS1	NA	8327473, 10449914, 14991055, 16801345	Standard	NM_001457	NM_001457	NA	Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000490882.1:c.5949T>A	3.37:g.58134060T>A	ENSP00000420213:p.Cys1983*	NA	B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q9NRB5|Q9NT26|Q9UEV9	37	CCDS54599.1	.	.	.	.	.	.	.	.	.	.	T	46	12.749215	0.99693	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	-0.893	0.10567	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3262	0.55011	0.0:0.4478:0.0:0.5522	.	.	.	.	X	1952;1983;1928;1941;1952;1952;1759;1772	.	ENSP00000295956:C1952X	C	+	3	2	FLNB	58109100	0.944000	0.32072	0.994000	0.49952	0.995000	0.86356	0.021000	0.13489	-0.232000	0.09811	0.533000	0.62120	TGT	FLNB-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353570.1		+	ENST00000490882.1	Nonsense_Mutation	SNP	3 : 58134060 - 58134060 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	146	14
FLNB	2317	broad.mit.edu	37	3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000490882.1	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K	NM_001164317.1	NP_001157789.1	O75369	FLNB_HUMAN	filamin B, beta	1033					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTACACAGTGGAGGCCTCGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	106	104			NA	NA	3		NA											NA				58107201		2203	4300	6503	SO:0001583	missense			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068	2317	2317			3755	protein-coding gene	gene with protein product	actin binding protein 278	603381	filamin B, beta (actin binding protein 278), Larsen syndrome 1 (autosomal dominant)	FLN1L, LRS1	NA	8327473, 10449914, 14991055, 16801345	Standard	NM_001457	NM_001457	NA	Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000490882.1:c.3097G>A	3.37:g.58107201G>A	ENSP00000420213:p.Glu1033Lys	NA	B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q9NRB5|Q9NT26|Q9UEV9	37	CCDS54599.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855482	0.91355	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.87	5.87	0.94306	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.136651	0.64402	D	0.000004	T	0.49660	0.1570	L	0.35723	1.085	0.80722	D	1	P;P;B;B;P;P	0.48640	0.913;0.893;0.415;0.121;0.774;0.774	P;P;B;B;B;B	0.52217	0.693;0.493;0.299;0.246;0.345;0.345	T	0.36480	-0.9746	10	0.46703	T	0.11	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1033;1033;864;864;1033;1033	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1033;1033;1033;1033;1033;1033;864;864	ENSP00000295956:E1033K;ENSP00000420213:E1033K;ENSP00000351339:E1033K;ENSP00000415599:E1033K;ENSP00000232447:E1033K;ENSP00000349819:E1033K;ENSP00000418510:E864K;ENSP00000414532:E864K	ENSP00000295956:E1033K	E	+	1	0	FLNB	58082241	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.890000	0.87313	2.780000	0.95670	0.655000	0.94253	GAG	FLNB-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353570.1		+	ENST00000490882.1	Missense_Mutation	SNP	3 : 58107201 - 58107201 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	781	142
FLNC	2318	broad.mit.edu	37	7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	441					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACATACAGACCTGCCATGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	97	94			NA	NA	7		NA											NA				128478769		2127	4223	6350	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1323A>T	7.37:g.128478769A>T	ENSP00000327145:p.Arg441Ser	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522233	0.44866	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	4.9	4.01	0.46588	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.483889	0.21640	N	0.071355	T	0.51924	0.1703	L	0.48642	1.525	0.43164	D	0.994953	B;B	0.21225	0.053;0.039	B;B	0.29440	0.038;0.102	T	0.52578	-0.8557	10	0.48119	T	0.1	.	4.0045	0.09595	0.1951:0.0:0.6163:0.1886	.	441;441	Q14315-2;Q14315	.;FLNC_HUMAN	S	441	ENSP00000327145:R441S;ENSP00000344002:R441S	ENSP00000327145:R441S	R	+	3	2	FLNC	128266005	0.385000	0.25172	0.997000	0.53966	0.975000	0.68041	-0.139000	0.10358	1.257000	0.44085	-0.366000	0.07423	AGA	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128478769 - 128478769 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	658	107
FLT4	2324	broad.mit.edu	37	5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W|FLT4_ENST00000502649.1_Missense_Mutation_p.R189W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	189	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCATGCCCCGCCGGTCATCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													72	67	69			NA	NA	5		NA											NA				180057054		2200	4297	6497	SO:0001583	missense			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.565C>T	5.37:g.180057054G>A	ENSP00000261937:p.Arg189Trp	NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611614	0.66558	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.05258	3.47;3.47;3.47	5.16	3.02	0.34903	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	M	0.65975	2.015	0.38025	D	0.934989	D;D;D;D	0.89917	0.999;1.0;0.989;0.989	P;D;P;P	0.65010	0.855;0.931;0.677;0.582	T	0.02138	-1.1207	9	0.56958	D	0.05	.	7.5225	0.27637	0.0:0.1296:0.4182:0.4522	.	189;189;189;189	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	189	ENSP00000261937:R189W;ENSP00000377016:R189W;ENSP00000426057:R189W	ENSP00000261937:R189W	R	-	1	2	FLT4	179989660	0.824000	0.29247	1.000000	0.80357	0.821000	0.46438	0.873000	0.28052	1.262000	0.44165	0.561000	0.74099	CGG	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4		-	ENST00000261937.6	Missense_Mutation	SNP	5 : 180057054 - 180057054 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	407	46
FMO1	2326	broad.mit.edu	37	1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	494					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGTGGGACCGAACATTCAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	1		NA											NA				171254564		2203	4300	6503	SO:0001587	stop_gained			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	2326	2326	1.14.13.8		3769	protein-coding gene	gene with protein product		136130			NA		Standard	NM_002021	XM_005245037	NA	Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1480C>T	1.37:g.171254564C>T	ENSP00000346901:p.Arg494*	NA	A8K248|Q5QPT2|Q9UJC2	37	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316156	0.97467	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1246	9.8702	0.41168	0.139:0.7877:0.0:0.0732	.	.	.	.	X	494;431;494	.	ENSP00000346901:R494X	R	+	1	2	FMO1	169521188	0.653000	0.27358	0.971000	0.41717	0.929000	0.56500	1.341000	0.33907	1.372000	0.46190	-0.259000	0.10710	CGA	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086212.1		+	ENST00000354841.4	Nonsense_Mutation	SNP	1 : 171254564 - 171254564 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	437	81
FSTL4	23105	broad.mit.edu	37	5	132535363	132535363	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	651						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCGCCCAGGTGGGTGTGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	42	42			NA	NA	5		NA											NA				132535363		2203	4300	6503	SO:0001819	synonymous_variant			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108	23105	23105		EF-hand domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	21389	protein-coding gene	gene with protein product					NA	10470851, 15527507	Standard	XM_048786	NM_015082	NA	Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1953C>T	5.37:g.132535363G>A		NA	Q8TBU0|Q9UPU1	37	CCDS34238.1																																																																																			FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370212.1		-	ENST00000265342.7	Silent	SNP	5 : 132535363 - 132535363 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	198	39
GALR1	2587	broad.mit.edu	37	18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	142					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCACTCGCGGCGCTCCTCCTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	18		NA											NA				74962928		2203	4299	6502	SO:0001583	missense			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573	2587	2587		GPCR / Class A : Galanin receptors	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR	NA	7524088	Standard		NM_001480	NA	Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.424C>T	18.37:g.74962928C>T	ENSP00000299727:p.Arg142Cys	NA	Q4VBL7	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897440	0.52121	.	.	ENSG00000166573	ENST00000299727	T	0.43294	0.95	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.053378	0.64402	D	0.000001	T	0.60919	0.2306	M	0.79805	2.47	0.58432	D	0.999997	D	0.65815	0.995	P	0.60345	0.873	T	0.67213	-0.5727	10	0.87932	D	0	.	11.9672	0.53042	0.1737:0.8263:0.0:0.0	.	142	P47211	GALR1_HUMAN	C	142	ENSP00000299727:R142C	ENSP00000299727:R142C	R	+	1	0	GALR1	73091916	0.998000	0.40836	1.000000	0.80357	0.380000	0.30137	3.631000	0.54280	2.044000	0.60594	0.591000	0.81541	CGC	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256362.1		+	ENST00000299727.3	Missense_Mutation	SNP	18 : 74962928 - 74962928 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	277	56
GDF11	10220	broad.mit.edu	37	12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	263					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAACGCCTTTGATCCCAGTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	34	39			NA	NA	12		NA											NA				56142711		2203	4300	6503	SO:0001583	missense			AF100907	CCDS8891.1	12q13.13	2008-08-01					NA	10220			4216	protein-coding gene	gene with protein product		603936			NA	15988002	Standard		NM_005811	NA	Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.787G>C	12.37:g.56142711G>C	ENSP00000257868:p.Asp263His	NA	Q9UID1|Q9UID2	37	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350476|4.350476	0.82132|0.82132	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.66280|.	-0.2|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.40728|.	T|.	0.16|.	-6.1484|-6.1484	14.8487|14.8487	0.70281|0.70281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263|.	O95390|.	GDF11_HUMAN|.	H|F	263|235	ENSP00000257868:D263H|.	ENSP00000257868:D263H|.	D|L	+|+	1|3	0|2	GDF11|GDF11	54428978|54428978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.450000|2.450000	0.82876|0.82876	0.555000|0.555000	0.69702|0.69702	GAT|TTG	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407842.3		+	ENST00000257868.5	Missense_Mutation	SNP	12 : 56142711 - 56142711 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	88	22
GPR83	10888	broad.mit.edu	37	11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000539203.2	-	1	391	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000243673.2_Missense_Mutation_p.V83F			Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	83						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTGAGAAGACAATGATGAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	90	93			NA	NA	11		NA											NA				94134167		2201	4298	6499	SO:0001583	missense			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901	10888	10888		GPCR / Class A : Orphans	4523	protein-coding gene	gene with protein product		605569	G protein-coupled receptor 72	GPR72	NA	10760605, 11060465	Standard	NM_016540	NM_016540	NA	Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000539203.2:c.247G>T	11.37:g.94134167C>A	ENSP00000441550:p.Val83Phe	NA	B0M0K5|Q6NWR4|Q9P1Y8	37		.	.	.	.	.	.	.	.	.	.	C	14.24	2.475211	0.43942	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39997	1.05;1.05	4.84	-4.47	0.03525	.	0.508381	0.21011	N	0.081692	T	0.33673	0.0871	L	0.59436	1.845	0.44702	D	0.997697	B	0.19706	0.038	B	0.17433	0.018	T	0.02774	-1.1112	10	0.46703	T	0.11	.	11.5618	0.50780	0.0:0.4821:0.0:0.5179	.	83	Q9NYM4	GPR83_HUMAN	F	83	ENSP00000243673:V83F;ENSP00000441550:V83F	ENSP00000243673:V83F	V	-	1	0	GPR83	93773815	0.059000	0.20769	0.684000	0.30055	0.982000	0.71751	0.089000	0.15002	-1.110000	0.02992	0.455000	0.32223	GTC	GPR83-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396233.2		-	ENST00000539203.2	Missense_Mutation	SNP	11 : 94134167 - 94134167 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	178	40
GRSF1	2926	broad.mit.edu	37	4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000502323.1	-	8	1093	c.832A>G	c.(832-834)Act>Gct	p.T278A	GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000254799.6_Missense_Mutation_p.T440A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron			Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	440	RRM 2.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCTTCTCCAGTGGCCTTCCCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	67	67			NA	NA	4		NA											NA				71691088		1989	4182	6171	SO:0001583	missense			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463	2926	2926		RNA binding motif (RRM) containing	4610	protein-coding gene	gene with protein product		604851			NA	8036161	Standard	NM_002092	NM_001098477	NA	Approved		uc010iia.1	Q12849		ENST00000502323.1:c.832A>G	4.37:g.71691088T>C	ENSP00000425430:p.Thr278Ala	NA	Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	37	CCDS47070.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665232	0.88251	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	6.07	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.044997	0.85682	D	0.000000	T	0.26159	0.0638	M	0.72576	2.205	0.53005	D	0.999964	D;P	0.60160	0.987;0.581	D;P	0.70016	0.967;0.702	T	0.00660	-1.1622	10	0.62326	D	0.03	-9.2706	12.0784	0.53657	0.0:0.0668:0.0:0.9332	.	353;440	B7Z5F9;Q12849	.;GRSF1_HUMAN	A	440;278;372;413;278;322	ENSP00000254799:T440A;ENSP00000389219:T278A;ENSP00000427354:T413A;ENSP00000425430:T278A;ENSP00000443380:T322A	ENSP00000254799:T440A	T	-	1	0	GRSF1	71909952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.967000	0.70403	1.114000	0.41781	0.533000	0.62120	ACT	GRSF1-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362647.2		-	ENST00000502323.1	Missense_Mutation	SNP	4 : 71691088 - 71691088 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	113	23
HCK	3055	broad.mit.edu	37	20	30662501	30662501	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000520553.1	+	5	588	c.342C>T	c.(340-342)cgC>cgT	p.R114R	HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000534862.1_Silent_p.R115R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000375852.2_Silent_p.R135R	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	135	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGTCGCCCGCGTTGACTCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	98			NA	NA	20		NA											NA				30662501		2203	4300	6503	SO:0001819	synonymous_variant			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336	3055	3055		SH2 domain containing	4840	protein-coding gene	gene with protein product		142370	hemopoietic cell kinase		NA	3496523	Standard		NM_002110	NA	Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.342C>T	20.37:g.30662501C>T		NA	B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	37	CCDS54455.1																																																																																			HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375751.1		+	ENST00000520553.1	Silent	SNP	20 : 30662501 - 30662501 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	640	103
HECW2	57520	broad.mit.edu	37	2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000409111.1	-	0	514				HECW2_ENST00000260983.3_Missense_Mutation_p.M132I			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACTTACGTTCCATGAAATAGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	183	177			NA	NA	2		NA											NA				197208385		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.-501G>C	2.37:g.197208385C>G		NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	C	15.84	2.953035	0.53293	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.31247	1.5	6.06	6.06	0.98353	.	0.046101	0.85682	D	0.000000	T	0.31358	0.0794	L	0.54323	1.7	0.50171	D	0.99985	B	0.12013	0.005	B	0.15484	0.013	T	0.02533	-1.1145	10	0.37606	T	0.19	.	14.2555	0.66048	0.1491:0.8509:0.0:0.0	.	132	Q9P2P5	HECW2_HUMAN	I	132	ENSP00000260983:M132I	ENSP00000260983:M132I	M	-	3	0	HECW2	196916630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	ATG	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	5'UTR	SNP	2 : 197208385 - 197208385 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1027	79
HEPH	9843	broad.mit.edu	37	X	65409671	65409671	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000419594.1	+	6	1073	c.963C>T	c.(961-963)caC>caT	p.H321H	HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000519389.1_Silent_p.H372H|HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H	NM_001282141.1	NP_001269070.1	Q9BQS7	HEPH_HUMAN	hephaestin	318	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGTGGACACCACACTGATG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	91	105			NA	NA	X		NA											NA				65409671		2203	4300	6503	SO:0001819	synonymous_variant			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472	9843	9843			4866	protein-coding gene	gene with protein product		300167			NA	9988272, 9734811	Standard	NM_138737	NM_014799	NA	Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000419594.1:c.963C>T	X.37:g.65409671C>T		NA	B1AJX8|D3DVT7|O75180|Q6UW45|Q9C058	37																																																																																				HEPH-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346498.1		+	ENST00000419594.1	Silent	SNP	X : 65409671 - 65409671 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	189	45
HOMER2	9455	broad.mit.edu	37	15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	151					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CGTGAGAGGCCTTTTCATCGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	163	162			NA	NA	15		NA											NA				83527855		2007	4158	6165	SO:0001583	missense			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942	NA	9455			17513	protein-coding gene	gene with protein product		604799			NA	9808459, 9808458	Standard		NM_199330	NA	Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.453G>T	15.37:g.83527855C>A	ENSP00000305632:p.Lys151Asn	NA	O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	37	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741498	0.69304	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.79454	2.15;-1.27;2.42;2.43	5.39	3.46	0.39613	.	0.094216	0.64402	D	0.000001	T	0.77883	0.4197	L	0.60455	1.87	0.39080	D	0.960886	B;D;D;P	0.57899	0.338;0.981;0.96;0.893	B;P;P;P	0.53360	0.187;0.724;0.711;0.486	T	0.75777	-0.3198	10	0.25106	T	0.35	.	9.2512	0.37555	0.0:0.7746:0.0:0.2254	.	140;151;140;151	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	N	151;140;151;140	ENSP00000305632:K151N;ENSP00000407634:K140N;ENSP00000394293:K151N;ENSP00000382119:K140N	ENSP00000305632:K151N	K	-	3	2	HOMER2	81324909	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.921000	0.40035	1.478000	0.48253	0.651000	0.88453	AAG	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418689.1		-	ENST00000304231.8	Missense_Mutation	SNP	15 : 83527855 - 83527855 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	923	146
IDS	3423	broad.mit.edu	37	X	148579704	148579704	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000422081.2_Silent_p.T3T|IDS_ENST00000370441.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTGGCTGACGTTTTCATCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	136	144			NA	NA	X		NA											NA				148579704		2203	4300	6503	SO:0001819	synonymous_variant			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3423	3423	3.1.6.13		5389	protein-coding gene	gene with protein product	Hunter syndrome	300823		SIDS	NA		Standard		NM_006123	NA	Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.642G>T	X.37:g.148579704C>A		NA	D3DWT4|Q14604|Q9BRM3	37	CCDS14685.1																																																																																			IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058677.3		-	ENST00000340855.6	Silent	SNP	X : 148579704 - 148579704 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	647	23
IGSF1	3547	broad.mit.edu	37	X	130409231	130409231	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000370904.1	-	23	4097	c.3187C>G	c.(3187-3189)Cag>Gag	p.Q1063E	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1072					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.Q1072*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGACCAGGCTGGGCTAATAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	lung(1)											79	82	81			NA	NA	X		NA											NA				130409231		2203	4300	6503	SO:0001583	missense			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255	3547	3547		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5948	protein-coding gene	gene with protein product		300137			NA	9521868, 9729118	Standard		NM_001555	NA	Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000370904.1:c.3187C>G	X.37:g.130409231G>C	ENSP00000359941:p.Gln1063Glu	NA	B5MEG2|O15070|Q9NTC8	37	CCDS55490.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474766	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.751183	0.12360	N	0.475750	T	0.03651	0.0104	L	0.38953	1.18	0.28842	N	0.89655	B;B;B	0.23650	0.082;0.089;0.079	B;B;B	0.25614	0.036;0.062;0.039	T	0.25293	-1.0136	10	0.29301	T	0.29	.	12.231	0.54488	0.0:0.0:1.0:0.0	.	1063;516;1072	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	1063;1072;1063;1077	ENSP00000359947:Q1063E;ENSP00000355010:Q1072E;ENSP00000359941:Q1063E;ENSP00000359940:Q1077E	ENSP00000355010:Q1072E	Q	-	1	0	IGSF1	130236912	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	1.912000	0.39946	2.376000	0.81061	0.594000	0.82650	CAG	IGSF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058286.1		-	ENST00000370904.1	Missense_Mutation	SNP	X : 130409231 - 130409231 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1029	162
ITK	3702	broad.mit.edu	37	5	156608099	156608099	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	37	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAAGCCAGCCTGGCATACT	0.398		NA	T	SYK	peripheral T-cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													128	123	125			NA	NA	5		NA											NA				156608099		2203	4300	6503	SO:0001819	synonymous_variant			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263	3702	3702		Pleckstrin homology (PH) domain containing, SH2 domain containing	6171	protein-coding gene	gene with protein product		186973			NA	8364206	Standard		NM_005546	NA	Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.111C>T	5.37:g.156608099C>T		NA	B2R752|Q32ML7	37	CCDS4336.1																																																																																			ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252569.2		+	ENST00000422843.3	Silent	SNP	5 : 156608099 - 156608099 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	870	145
KCNA2	3737	broad.mit.edu	37	1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000369770.3	-	3	624	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V|KCNA2_ENST00000485317.1_Missense_Mutation_p.G17V	NM_001204269.1	NP_001191198.1	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	17						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CTGTGGGTGCCCAGGGAGGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(18;568 735 10587 23710 36357)							NA				0													97	101	100			NA	NA	1		NA											NA				111147355		2203	4300	6503	SO:0001583	missense			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301	3737	3737		Potassium channels, Voltage-gated ion channels / Potassium channels	6220	protein-coding gene	gene with protein product		176262			NA	16382104	Standard	NM_004974	NM_004974	NA	Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000369770.3:c.50G>T	1.37:g.111147355C>A	ENSP00000358785:p.Gly17Val	NA		37	CCDS55625.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638576	0.67130	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96334	-1.29;-3.98;-3.98;-3.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.56769	1.78	0.80722	D	1	B;P	0.45011	0.262;0.848	B;P	0.52823	0.101;0.71	D	0.94141	0.7397	10	0.17369	T	0.5	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	17;17	Q86XG6;P16389	.;KCNA2_HUMAN	V	17	ENSP00000358785:G17V;ENSP00000433109:G17V;ENSP00000415257:G17V;ENSP00000314520:G17V	ENSP00000314520:G17V	G	-	2	0	KCNA2	110948878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.713000	0.92767	0.655000	0.94253	GGG	KCNA2-001	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000031965.2		-	ENST00000369770.3	Missense_Mutation	SNP	1 : 111147355 - 111147355 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1047	175
KCNT1	57582	broad.mit.edu	37	9	138675926	138675926	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000371757.2	+	25	2965	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000263604.3_Silent_p.A947A	NM_020822.2	NP_065873.2	B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	966						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTTCGCCGCCGGCCGCGTCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	64	67			NA	NA	9		NA											NA				138675926		2203	4300	6503	SO:0001819	synonymous_variant			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147	57582	57582		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18865	protein-coding gene	gene with protein product		608167			NA	10718198, 16382103	Standard	NM_020822	NM_020822	NA	Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000371757.2:c.2898C>T	9.37:g.138675926C>T		NA		37	CCDS35175.2																																																																																			KCNT1-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055021.2		+	ENST00000371757.2	Silent	SNP	9 : 138675926 - 138675926 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	403	46
KIAA1217	56243	broad.mit.edu	37	10	24762714	24762714	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000307544.6	+	2	890	c.558C>A	c.(556-558)tcC>tcA	p.S186S	KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376452.3_Silent_p.S468S	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	468					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACTGGGCTCCAAAACACCCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	72	77			NA	NA	10		NA											NA				24762714		2203	4300	6503	SO:0001819	synonymous_variant			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.558C>A	10.37:g.24762714C>A		NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37																																																																																				KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Silent	SNP	10 : 24762714 - 24762714 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	454	83
KIAA1524	57650	broad.mit.edu	37	3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	868						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAGGACTCTTTCTCTTCC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	3		NA											NA				108270112		2203	4300	6503	SO:0001583	missense			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507	57650	57650			29302	protein-coding gene	gene with protein product	cancerous inhibitor of protein phosphatase 2A	610643			NA	10819331, 24214971	Standard	NM_020890	NM_020890	NA	Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2602G>C	3.37:g.108270112C>G	ENSP00000295746:p.Glu868Gln	NA	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013192	0.93346	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.55052	0.54;0.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74910	-0.3503	10	0.66056	D	0.02	-12.9123	19.4773	0.94994	0.0:1.0:0.0:0.0	.	868	Q8TCG1	CIP2A_HUMAN	Q	709;868	ENSP00000419487:E709Q;ENSP00000295746:E868Q	ENSP00000295746:E868Q	E	-	1	0	KIAA1524	109752802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.308000	0.65768	2.593000	0.87608	0.655000	0.94253	GAG	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353975.2		-	ENST00000295746.8	Missense_Mutation	SNP	3 : 108270112 - 108270112 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	204	46
KMT2C	58508	broad.mit.edu	37	7	151845337	151845338	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:151845337_151845338insA	ENST00000262189.6	-	52	13892_13893	c.13674_13675insT	c.(13672-13677)attggtfs	p.G4559fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G4616fs	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						AGCAGCTGACCAATTGTGTGGA	0.535		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			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13675dupT	7.37:g.151845339_151845339dupA	ENSP00000262189:p.Gly4559fs	NA		37	CCDS5931.1																																																																																			KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Frame_Shift_Ins	INS	7 : 151845337 - 151845338 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	402	63
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	113	9
LRP1B	53353	broad.mit.edu	37	2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAGTGTAGTTCTTAGGGAGC	0.458		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													172	167	169			NA	NA	2		NA											NA				141641448		2203	4300	6503	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4107A>T	2.37:g.141641448T>A	ENSP00000374135:p.Arg1369Ser	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782993	0.49891	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97598	-4.45;-4.45	5.64	1.83	0.25207	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.92691	3.335	0.46725	D	0.999171	P;D	0.89917	0.771;1.0	P;D	0.87578	0.531;0.998	D	0.96886	0.9649	10	0.66056	D	0.02	.	6.582	0.22600	0.0:0.249:0.119:0.632	.	552;1369	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1369;1307;514	ENSP00000374135:R1369S;ENSP00000413239:R514S	ENSP00000374135:R1369S	R	-	3	2	LRP1B	141357918	0.999000	0.42202	0.982000	0.44146	0.896000	0.52359	0.411000	0.21115	0.125000	0.18397	0.533000	0.62120	AGA	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141641448 - 141641448 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	711	116
LRRK1	79705	broad.mit.edu	37	15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000388948.3	+	6	1003	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q|LRRK1_ENST00000284395.5_Missense_Mutation_p.R212Q	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	215					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTGCTTCGGCATGGGGCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG	1,3995		0,1,1997	157	153	154		644	4.4	0.2	15		154	0,8382		0,0,4191	no	missense	LRRK1	NM_024652.3	43	0,1,6188	AA,AG,GG	NA	0.0,0.025,0.0081	benign	215/2016	101529485	1,12377	1998	4191	6189	SO:0001583	missense			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237	79705	79705			18608	protein-coding gene	gene with protein product		610986			NA	11347906, 14654223	Standard	NM_024652	XM_005254979	NA	Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.644G>A	15.37:g.101529485G>A	ENSP00000373600:p.Arg215Gln	NA	Q6NVH5|Q6NYC0|Q6ZNL9|Q6ZNM9|Q96JN5|Q9H5S3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200254	0.38905	2.5E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.70164	-0.46;-0.06;-0.46	5.27	4.36	0.52297	Ankyrin repeat-containing domain (3);	0.357809	0.27245	N	0.020253	T	0.43590	0.1254	N	0.11560	0.145	0.27090	N	0.962887	B;B	0.23891	0.0;0.093	B;B	0.17098	0.001;0.017	T	0.27468	-1.0073	10	0.26408	T	0.33	.	9.4521	0.38731	0.1609:0.0:0.8391:0.0	.	215;215	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	Q	215;212;215	ENSP00000373600:R215Q;ENSP00000284395:R212Q;ENSP00000433268:R215Q	ENSP00000284395:R212Q	R	+	2	0	LRRK1	99347008	0.896000	0.30565	0.239000	0.24122	0.988000	0.76386	3.161000	0.50747	1.362000	0.46000	0.650000	0.86243	CGG	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384567.2		+	ENST00000388948.3	Missense_Mutation	SNP	15 : 101529485 - 101529485 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	717	105
MROH9	80133	broad.mit.edu	37	1	170967515	170967515	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967515G>T	ENST00000367758.3	+	15	1795	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9	NA											NA						TCTGAATGTTGGTTCTTACCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	113	119			NA	NA	1		NA											NA				170967515		1836	4093	5929	SO:0001583	missense			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501	80133	80133		maestro heat-like repeat containing	26287	protein-coding gene	gene with protein product			chromosome 1 open reading frame 129	C1orf129	NA		Standard	NM_025063	NM_025063	NA	Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1696G>T	1.37:g.170967515G>T	ENSP00000356732:p.Gly566Cys	NA		37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455111	0.26161	.	.	ENSG00000117501	ENST00000367758	T	0.19394	2.15	3.5	0.187	0.15109	.	0.828757	0.10249	N	0.697367	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.42699	-0.9436	10	0.87932	D	0	0.8303	4.3614	0.11205	0.13:0.0:0.318:0.552	.	566	Q5TGP6	CA129_HUMAN	C	566	ENSP00000356732:G566C	ENSP00000356732:G566C	G	+	1	0	C1orf129	169234139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.564000	0.05936	0.015000	0.14971	0.446000	0.29264	GGT	MROH9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099327.1		+	ENST00000367758.3	Missense_Mutation	SNP	1 : 170967515 - 170967515 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	351	46
MROH9	80133	broad.mit.edu	37	1	170967516	170967516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967516G>T	ENST00000367758.3	+	15	1796	c.1697G>T	c.(1696-1698)gGt>gTt	p.G566V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9	NA											NA						CTGAATGTTGGTTCTTACCAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	112	117			NA	NA	1		NA											NA				170967516		1836	4093	5929	SO:0001583	missense			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501	80133	80133		maestro heat-like repeat containing	26287	protein-coding gene	gene with protein product			chromosome 1 open reading frame 129	C1orf129	NA		Standard	NM_025063	NM_025063	NA	Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1697G>T	1.37:g.170967516G>T	ENSP00000356732:p.Gly566Val	NA		37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	4.954	0.177286	0.09443	.	.	ENSG00000117501	ENST00000367758	T	0.18657	2.2	3.5	-5.73	0.02398	.	0.828757	0.10249	N	0.697367	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.33042	0.157	T	0.35549	-0.9784	10	0.87932	D	0	0.8303	0.4664	0.00525	0.2894:0.1345:0.3038:0.2723	.	566	Q5TGP6	CA129_HUMAN	V	566	ENSP00000356732:G566V	ENSP00000356732:G566V	G	+	2	0	C1orf129	169234140	0.050000	0.20438	0.000000	0.03702	0.015000	0.08874	-0.045000	0.12003	-1.222000	0.02587	0.446000	0.29264	GGT	MROH9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099327.1		+	ENST00000367758.3	Missense_Mutation	SNP	1 : 170967516 - 170967516 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	351	44
MTM1	4534	broad.mit.edu	37	X	149826497	149826497	+	Silent	SNP	A	A	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000543350.1_Silent_p.A304A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	419	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAATTTGCATCTGTGAGTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	X		NA											NA				149826497		2203	4300	6503	SO:0001819	synonymous_variant			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100	4534	4534		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7448	protein-coding gene	gene with protein product		300415	myotubular myopathy 1		NA		Standard	NM_000252	NM_000252	NA	Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1257A>C	X.37:g.149826497A>C		NA	A6NDB1|Q8NEL1	37	CCDS14694.1																																																																																			MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060847.3		+	ENST00000370396.2	Silent	SNP	X : 149826497 - 149826497 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	280	51
MUC4	4585	broad.mit.edu	37	3	195517059	195517059	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195517059C>A	ENST00000463781.3	-	2	1851	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.R464R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	469					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCATGAGGCCGTCCTGTGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	177	177			NA	NA	3		NA											NA				195517059		1964	4143	6107	SO:0001819	synonymous_variant			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1392G>T	3.37:g.195517059C>A		NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1																																																																																			MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Silent	SNP	3 : 195517059 - 195517059 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	755	15
MYOZ1	58529	broad.mit.edu	37	10	75399731	75399731	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	15					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAGCTTGCTGGATTTCCTCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	147	155			NA	NA	10		NA											NA				75399731		2203	4300	6503	SO:0001819	synonymous_variant			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791	58529	58529			13752	protein-coding gene	gene with protein product	calsarcin-2	605603	myozenin	MYOZ	NA	11171996, 10984498	Standard		NM_021245	NA	Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.45C>T	10.37:g.75399731G>A		NA	Q9H1I7	37	CCDS7330.1																																																																																			MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048654.1		-	ENST00000359322.4	Silent	SNP	10 : 75399731 - 75399731 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	481	88
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	83			NA	NA	7		NA											NA				144097345		1892	4124	6016	SO:0001583	missense					7q35	2011-06-20			ENSG00000106410	ENSG00000106410	135935	135935		Homeoboxes / PRD class	22448	protein-coding gene	gene with protein product	newborn ovary homeobox-encoding gene	610934			NA	11804785, 16597639	Standard	XM_001134420	NM_001080413	NA	Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His	NA	A6NCD3|A8MZN5	37		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC	NOBOX-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000350095.1		-	ENST00000467773.1	Missense_Mutation	SNP	7 : 144097345 - 144097345 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	402	77
NPAT	4863	broad.mit.edu	37	11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1245	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTAACATTTCTGTGGTAATC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	172	171			NA	NA	11		NA											NA				108032080		1854	4102	5956	SO:0001583	missense			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308	4863	4863			7896	protein-coding gene	gene with protein product		601448			NA	9205109	Standard	NM_002519	NM_002519	NA	Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3733G>A	11.37:g.108032080C>T	ENSP00000278612:p.Glu1245Lys	NA	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616831	0.66672	.	.	ENSG00000149308	ENST00000278612	T	0.07567	3.18	5.24	5.24	0.73138	.	0.300838	0.34580	N	0.003851	T	0.23289	0.0563	M	0.69823	2.125	0.58432	D	0.999999	D	0.55385	0.971	P	0.53401	0.725	T	0.00164	-1.1968	10	0.66056	D	0.02	-12.4987	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1245	Q14207	NPAT_HUMAN	K	1245	ENSP00000278612:E1245K	ENSP00000278612:E1245K	E	-	1	0	NPAT	107537290	1.000000	0.71417	0.909000	0.35828	0.109000	0.19521	6.781000	0.75068	2.890000	0.99128	0.650000	0.86243	GAA	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389506.2		-	ENST00000278612.8	Missense_Mutation	SNP	11 : 108032080 - 108032080 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1394	39
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000423158.3	+	2	832	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	194					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(194;1104 2182 8339 9578 18493)							NA				1	Substitution - Missense(1)	lung(1)											56	55	56			NA	NA	12		NA											NA				5603961		2203	4300	6503	SO:0001583	missense				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652	4908	4908		Endogenous ligands	8023	protein-coding gene	gene with protein product		162660			NA	1889806	Standard		NM_002527	NA	Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000423158.3:c.620G>A	12.37:g.5603961G>A	ENSP00000397297:p.Arg207Gln	NA	Q6FH50	37	CCDS44806.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118561	0.77323	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.68181	-0.31;-0.31	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.049532	0.64402	D	0.000001	T	0.72203	0.3431	M	0.64997	1.995	0.46564	D	0.999104	D;D	0.76494	0.999;0.999	P;P	0.48815	0.591;0.591	T	0.76664	-0.2876	10	0.87932	D	0	-29.9681	18.2818	0.90101	0.0:0.0:1.0:0.0	.	194;207	P20783;B7Z1T5	NTF3_HUMAN;.	Q	207;194	ENSP00000397297:R207Q;ENSP00000328738:R194Q	ENSP00000328738:R194Q	R	+	2	0	NTF3	5474222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	3.780000	0.55386	2.583000	0.87209	0.650000	0.86243	CGA	NTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400484.2		+	ENST00000423158.3	Missense_Mutation	SNP	12 : 5603961 - 5603961 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	318	53
OR10A6	390093	broad.mit.edu	37	11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAAATATAATTAATTTCAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	11		NA											NA				7949776		2187	4292	6479	SO:0001583	missense			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393	390093	390093		GPCR / Class A : Olfactory receptors	15132	protein-coding gene	gene with protein product					NA		Standard	NM_001004461	NM_001004461	NA	Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.434T>C	11.37:g.7949776A>G	ENSP00000312470:p.Ile145Thr	NA	Q6IF59	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	1.813	-0.474282	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.43688	0.94	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.614618	0.13200	N	0.406025	T	0.30039	0.0752	N	0.16862	0.45	0.09310	N	1	B	0.22080	0.064	B	0.23852	0.049	T	0.24225	-1.0166	10	0.62326	D	0.03	.	11.9092	0.52729	1.0:0.0:0.0:0.0	.	145	Q8NH74	O10A6_HUMAN	T	145	ENSP00000312470:I145T	ENSP00000312470:I145T	I	-	2	0	OR10A6	7906352	0.000000	0.05858	0.154000	0.22540	0.014000	0.08584	1.296000	0.33389	1.983000	0.57843	0.533000	0.62120	ATT	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385703.1		-	ENST00000309838.2	Missense_Mutation	SNP	11 : 7949776 - 7949776 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	358	83
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											218	214	216			NA	NA	6		NA											NA				29365221		1511	2708	4219	SO:0001583	missense				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787	26529	26529		GPCR / Class A : Olfactory receptors	8178	protein-coding gene	gene with protein product			olfactory receptor, family 12, subfamily D, member 2		NA		Standard		NM_013936	NA	Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.745C>A	6.37:g.29365221C>A	ENSP00000373047:p.Leu249Ile	NA	B0S862|Q5SUN9|Q6IET9	37	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306945	0.23821	.	.	ENSG00000168787	ENST00000383555	T	0.00256	8.42	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00073	0.0002	L	0.37630	1.12	0.09310	N	1	B	0.33755	0.424	B	0.43916	0.436	T	0.07693	-1.0759	10	0.22109	T	0.4	.	6.48	0.22057	0.0:0.5558:0.275:0.1692	.	249	P58182	O12D2_HUMAN	I	249	ENSP00000373047:L249I	ENSP00000373047:L249I	L	+	1	0	OR12D2	29473200	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.686000	0.05161	0.314000	0.23086	0.205000	0.17691	CTT	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076054.2		+	ENST00000383555.2	Missense_Mutation	SNP	6 : 29365221 - 29365221 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	999	170
OR13F1	138805	broad.mit.edu	37	9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTAATCATGCTGGTGATCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													341	304	317			NA	NA	9		NA											NA				107267140		2203	4300	6503	SO:0001583	missense				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881	138805	138805		GPCR / Class A : Olfactory receptors	14723	protein-coding gene	gene with protein product					NA		Standard		NM_001004485	NA	Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.597G>A	9.37:g.107267140G>A	ENSP00000334452:p.Met199Ile	NA	Q6IF50	37	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918213	0.17982	.	.	ENSG00000186881	ENST00000334726	T	0.00048	8.82	4.29	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.091249	0.47093	N	0.000241	T	0.00073	0.0002	N	0.05608	-0.01	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.06391	-1.0829	10	0.30078	T	0.28	.	5.7443	0.18112	0.3867:0.0:0.6133:0.0	.	199	Q8NGS4	O13F1_HUMAN	I	199	ENSP00000334452:M199I	ENSP00000334452:M199I	M	+	3	0	OR13F1	106306961	0.006000	0.16342	0.148000	0.22405	0.993000	0.82548	0.163000	0.16520	0.572000	0.29383	0.650000	0.86243	ATG	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053475.1		+	ENST00000334726.2	Missense_Mutation	SNP	9 : 107267140 - 107267140 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1121	80
OR1K1	392392	broad.mit.edu	37	9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGGCACTCCGAGCCCTTCTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	43	44			NA	NA	9		NA											NA				125563309		2203	4300	6503	SO:0001583	missense			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204	NA	392392		GPCR / Class A : Olfactory receptors	8212	protein-coding gene	gene with protein product					NA		Standard		NM_080859	NA	Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.908G>A	9.37:g.125563309G>A	ENSP00000277309:p.Arg303Gln	NA	B9EH41|Q4VXB7|Q96R23	37	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211147	0.09757	.	.	ENSG00000165204	ENST00000277309	T	0.39406	1.08	4.49	1.68	0.24146	.	0.252216	0.20517	N	0.090769	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.16867	-1.0388	10	0.23891	T	0.37	.	8.1058	0.30885	0.2689:0.0:0.7311:0.0	.	303	Q8NGR3	OR1K1_HUMAN	Q	303	ENSP00000277309:R303Q	ENSP00000277309:R303Q	R	+	2	0	OR1K1	124603130	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.119000	0.15626	0.171000	0.19730	-0.244000	0.11960	CGA	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053958.1		+	ENST00000277309.2	Missense_Mutation	SNP	9 : 125563309 - 125563309 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	349	112
OR9G1	390174	broad.mit.edu	37	11	56468064	56468064	+	Silent	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1	NA										breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCTGTCGTTTCTGGATCTCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	124	130			NA	NA	11		NA											NA				56468064		2201	4296	6497	SO:0001819	synonymous_variant			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914	390174	390174		GPCR / Class A : Olfactory receptors	15319	protein-coding gene	gene with protein product				OR9G5	NA		Standard	NM_001005213	NM_001005213	NA	Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.201T>C	11.37:g.56468064T>C		NA		37	CCDS31536.1																																																																																			OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393253.1		+	ENST00000312153.1	Silent	SNP	11 : 56468064 - 56468064 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	639	75
PARK2	5071	broad.mit.edu	37	6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	93	98			NA	NA	6		NA											NA				162864492		2203	4300	6503	SO:0001583	missense				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345	5071	5071		Parkinson disease	8607	protein-coding gene	gene with protein product	E3 ubiquitin ligase	602544	Parkinson disease (autosomal recessive, juvenile) 2, parkin, parkinson protein 2, E3 ubiquitin protein ligase (parkin)		NA	9560156, 9570960	Standard		NM_004562	NA	Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.21C>A	6.37:g.162864492G>T	ENSP00000355865:p.Phe7Leu	NA	A3FG77|A8K975|Q5TFV8|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682026	0.68042	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.058575	0.64402	D	0.000002	D	0.96371	0.8816	M	0.61703	1.905	0.33160	D	0.546906	D;P;D;D	0.76494	0.999;0.88;0.997;0.995	D;D;D;D	0.80764	0.994;0.946;0.958;0.958	D	0.95618	0.8678	10	0.44086	T	0.13	.	14.8348	0.70175	0.0:0.0:0.8561:0.1438	.	7;7;7;7	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	7;7;7;7;6	ENSP00000355865:F7L;ENSP00000355863:F7L;ENSP00000355862:F7L;ENSP00000355858:F7L	ENSP00000355858:F7L	F	-	3	2	PARK2	162784482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.700000	0.54786	2.805000	0.96524	0.655000	0.94253	TTC	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042995.1		-	ENST00000366898.1	Missense_Mutation	SNP	6 : 162864492 - 162864492 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	294	19
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000393955.2_Missense_Mutation_p.A172T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	125	124			NA	NA	11		NA											NA				66638642		2200	4295	6495	SO:0001583	missense			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	5091	5091	6.4.1.1		8636	protein-coding gene	gene with protein product		608786			NA	6548474	Standard	NM_001040716	NM_022172	NA	Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr	NA	Q16705	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393115.1		-	ENST00000393958.2	Missense_Mutation	SNP	11 : 66638642 - 66638642 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	358	53
PCDH10	57575	broad.mit.edu	37	4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGCTACTTGTACGCCCTGCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	69	67			NA	NA	4		NA											NA				134072871		2200	4293	6493	SO:0001583	missense			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650	57575	57575		Cadherins / Protocadherins : Non-clustered	13404	protein-coding gene	gene with protein product		608286			NA	10835267	Standard	NM_032961	NM_020815	NA	Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1576T>G	4.37:g.134072871T>G	ENSP00000264360:p.Tyr526Asp	NA	Q4W5F6	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427385	0.62733	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001442	T	0.68026	0.2956	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.73020	-0.4114	10	0.87932	D	0	.	12.9618	0.58462	0.0:0.0:0.0:1.0	.	526;526	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	526	ENSP00000264360:Y526D	ENSP00000264360:Y526D	Y	+	1	0	PCDH10	134292321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.836000	0.86788	1.889000	0.54706	0.533000	0.62120	TAC	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364457.2		+	ENST00000264360.5	Missense_Mutation	SNP	4 : 134072871 - 134072871 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	530	85
PCDHA4	56144	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V	NM_018907.2	NP_061730.1			protocadherin alpha 4	NA										breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	5		NA											NA				140188280		2203	4300	6503	SO:0001583	missense			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967	56144	56144		Cadherins / Protocadherins : Clustered	8670	other	complex locus constituent	ortholog of mouse CNR1, KIAA0345-like 10	606310			NA	10380929, 10662547	Standard	NM_018907	NM_018907	NA	Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1508C>T	5.37:g.140188280C>T	ENSP00000435300:p.Ala503Val	NA		37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350279	0.41599	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.65;0.59;0.62	4.18	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.47097	0.1427	L	0.28344	0.845	0.19300	N	0.999977	P;P;D	0.54047	0.902;0.937;0.964	P;P;P	0.56398	0.559;0.797;0.596	T	0.32771	-0.9894	10	0.72032	D	0.01	.	3.1704	0.06550	0.1412:0.561:0.1371:0.1606	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	503	ENSP00000423470:A503V;ENSP00000349344:A503V;ENSP00000435300:A503V	ENSP00000349344:A503V	A	+	2	0	PCDHA4	140168464	0.000000	0.05858	0.562000	0.28370	0.709000	0.40893	-0.289000	0.08365	0.030000	0.15379	0.580000	0.79431	GCG	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372864.2		+	ENST00000530339.1	Missense_Mutation	SNP	5 : 140188280 - 140188280 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	500	69
PCDHA7	56141	broad.mit.edu	37	5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|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|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1			protocadherin alpha 7	NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGCGTTCGCGCAGCCCGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(160;258 2013 5070 22440 28951)							NA				0													56	60	59			NA	NA	5		NA											NA				140215334		2203	4299	6502	SO:0001583	missense			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963	56141	56141		Cadherins / Protocadherins : Clustered	8673	other	complex locus constituent	KIAA0345-like 7, ortholog to mouse CNR4	606313		CNRS4	NA	10380929, 10662547	Standard	NM_018910	NM_018910	NA	Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1366G>A	5.37:g.140215334G>A	ENSP00000436426:p.Ala456Thr	NA		37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624705	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01359	4.98;4.98	4.0	-1.5	0.08691	Cadherin (3);Cadherin-like (1);	0.287183	0.17581	U	0.169114	T	0.00815	0.0027	N	0.05534	-0.03	0.09310	N	1	B;B	0.25105	0.118;0.091	B;B	0.30495	0.069;0.116	T	0.45775	-0.9238	10	0.44086	T	0.13	.	1.4843	0.02444	0.2051:0.1061:0.364:0.3248	.	456;456	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	456	ENSP00000436426:A456T;ENSP00000367365:A456T	ENSP00000367365:A456T	A	+	1	0	PCDHA7	140195518	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.809000	0.04510	-0.802000	0.04421	-2.305000	0.00258	GCG	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372887.2		+	ENST00000525929.1	Missense_Mutation	SNP	5 : 140215334 - 140215334 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	614	90
PCNXL2	80003	broad.mit.edu	37	1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTGCCTTCGGGACAGGGAAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	82	80			NA	NA	1		NA											NA				233394271		1967	4157	6124	SO:0001583	missense			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749	80003	80003			8736	protein-coding gene	gene with protein product			pecanex (Drosophila)-like 2		NA	12477932	Standard	NM_014801	NM_014801	NA	Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1337C>G	1.37:g.233394271G>C	ENSP00000258229:p.Pro446Arg	NA	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439400	0.25900	.	.	ENSG00000135749	ENST00000258229	T	0.08458	3.09	4.82	4.82	0.62117	.	.	.	.	.	T	0.06462	0.0166	N	0.19112	0.55	0.23293	N	0.997962	B	0.28713	0.22	B	0.24006	0.05	T	0.33292	-0.9874	9	0.23891	T	0.37	.	13.897	0.63778	0.0:0.0:0.8472:0.1528	.	446	A6NKB5	PCX2_HUMAN	R	446	ENSP00000258229:P446R	ENSP00000258229:P446R	P	-	2	0	PCNXL2	231460894	0.205000	0.23458	0.018000	0.16275	0.005000	0.04900	2.254000	0.43214	2.484000	0.83849	0.655000	0.94253	CCC	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092480.3		-	ENST00000258229.9	Missense_Mutation	SNP	1 : 233394271 - 233394271 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	515	111
PDS5B	23047	broad.mit.edu	37	13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	352					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGACTTAACAGGTACTAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	85	89			NA	NA	13		NA											NA				33253063		1833	4087	5920	SO:0001583	missense			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642	23047	23047			20418	protein-coding gene	gene with protein product		605333	androgen-induced proliferation inhibitor	APRIN	NA	8812419, 10215036	Standard	NM_015032	NM_015032	NA	Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1054A>T	13.37:g.33253063A>T	ENSP00000313851:p.Thr352Ser	NA	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770135	0.90108	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	L	0.54323	1.7	0.80722	D	1	P;B	0.45827	0.867;0.057	P;B	0.53062	0.717;0.058	T	0.67166	-0.5739	10	0.18276	T	0.48	-0.3507	15.5881	0.76502	1.0:0.0:0.0:0.0	.	352;352	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	S	352	ENSP00000313851:T352S	ENSP00000313851:T352S	T	+	1	0	PDS5B	32151063	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.191000	0.94940	2.090000	0.63153	0.459000	0.35465	ACA	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044428.3		+	ENST00000315596.10	Missense_Mutation	SNP	13 : 33253063 - 33253063 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	247	41
PDS5B	23047	broad.mit.edu	37	13	33332728	33332728	+	Silent	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1082					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGTACTACATACAGTTTGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	13		NA											NA				33332728		1851	4088	5939	SO:0001819	synonymous_variant			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642	23047	23047			20418	protein-coding gene	gene with protein product		605333	androgen-induced proliferation inhibitor	APRIN	NA	8812419, 10215036	Standard	NM_015032	NM_015032	NA	Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3246A>G	13.37:g.33332728A>G		NA	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	37	CCDS41878.1																																																																																			PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044428.3		+	ENST00000315596.10	Silent	SNP	13 : 33332728 - 33332728 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	754	131
PDZD2	23037	broad.mit.edu	37	5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	-	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2017					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.C2022Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401	23037	23037			18486	protein-coding gene	gene with protein product		610697	PDZ domain containing 3	PDZK3	NA	9205841	Standard		XM_005248271	NA	Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	5.37:g.32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENSP00000402033:p.Pro2017_Gly2026del	NA	Q9BXD4	37	CCDS34137.1																																																																																			PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366608.1		+	ENST00000438447.1	In_Frame_Del	DEL	5 : 32089602 - 32089631 - PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1176	37
PPEF1	5475	broad.mit.edu	37	X	18845404	18845404	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000349874.5_Silent_p.S525S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	587	EF-hand 2.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCTGATCTCCGTGGAAGAAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	X		NA											NA				18845404		2203	4300	6503	SO:0001819	synonymous_variant			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717	5475	5475		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9243	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, alpha isozyme	300109		PPEF	NA	9215685, 9326663	Standard	NM_006240	NM_152224	NA	Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1761C>T	X.37:g.18845404C>T		NA	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	37	CCDS14188.1																																																																																			PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055953.3		+	ENST00000361511.4	Silent	SNP	X : 18845404 - 18845404 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	474	115
PRSS35	167681	broad.mit.edu	37	6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000369700.3	+	2	575	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000536636.1_Missense_Mutation_p.I133T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGGTTCAGCATCTTGGACAAA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	95			NA	NA	6		NA											NA				84233558		2203	4300	6503	SO:0001583	missense			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250	167681	167681		Serine peptidases / Serine peptidases	21387	protein-coding gene	gene with protein product			chromosome 6 open reading frame 158	C6orf158	NA		Standard	NM_153362	NM_153362	NA	Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.398T>C	6.37:g.84233558T>C	ENSP00000358714:p.Ile133Thr	NA	A8K7B3|Q9BQP6	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078192	0.76528	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72944	-0.4138	10	0.87932	D	0	-14.2535	16.0993	0.81158	0.0:0.0:0.0:1.0	.	133	Q8N3Z0	PRS35_HUMAN	T	133	ENSP00000440870:I133T;ENSP00000358714:I133T	ENSP00000358714:I133T	I	+	2	0	PRSS35	84290277	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.698000	0.84413	2.207000	0.71202	0.459000	0.35465	ATC	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041352.1		+	ENST00000369700.3	Missense_Mutation	SNP	6 : 84233558 - 84233558 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	574	113
PTGS1	5742	broad.mit.edu	37	9	125140773	125140773	+	Silent	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	91					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCCACTTCCTGCTCACTCACG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	90	89			NA	NA	9		NA											NA				125140773		2203	4300	6503	SO:0001819	synonymous_variant			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	5742	5742	1.14.99.1		9604	protein-coding gene	gene with protein product		176805			NA	2512924, 1907252	Standard		NM_000962	NA	Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.273G>T	9.37:g.125140773G>T		NA	A8K1V7|Q15122|Q5T7T6|Q5T7T7|Q5T7T8	37	CCDS6842.1																																																																																			PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053933.1		+	ENST00000362012.2	Silent	SNP	9 : 125140773 - 125140773 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	727	122
PTPN13	5783	broad.mit.edu	37	4	87684337	87684337	+	Silent	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000427191.2	+	23	4434	c.3954A>T	c.(3952-3954)ccA>ccT	p.P1318P	PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000436978.1_Silent_p.P1337P|PTPN13_ENST00000316707.6_Silent_p.P1146P	NM_006264.2	NP_006255.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1337						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAAACACCAAAACAGGCAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	4		NA											NA				87684337		1865	4115	5980	SO:0001819	synonymous_variant				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629	NA	5783		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9646	protein-coding gene	gene with protein product		600267			NA	8287977	Standard		NM_006264	NA	Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000427191.2:c.3954A>T	4.37:g.87684337A>T		NA	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	37	CCDS47095.1																																																																																			PTPN13-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363189.1		+	ENST00000427191.2	Silent	SNP	4 : 87684337 - 87684337 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	608	103
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	90	92			NA	NA	8		NA											NA				52384855		1837	4075	5912	SO:0001583	missense				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485	137902	137902		Immunoglobulin superfamily / I-set domain containing	26359	protein-coding gene	gene with protein product	polysomal ribonuclease 1 homolog (Xenopus)	615904	peroxidasin homolog-like (Drosophila)		NA	22543864	Standard	NM_144651	NM_144651	NA	Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln	NA	B5ME43|B6CGZ3|Q6ZMR2|Q96LH9	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377905.1		-	ENST00000356297.4	Missense_Mutation	SNP	8 : 52384855 - 52384855 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	407	21
RAB39A	54734	broad.mit.edu	37	11	107832887	107832887	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:107832887A>T	ENST00000320578.2	+	2	509	c.443A>T	c.(442-444)gAc>gTc	p.D148V		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	148					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				NA						CTGTCAGCAGACTGTGGAATG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	11		NA											NA				107832887		2201	4298	6499	SO:0001583	missense			X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331	54734	54734		RAB, member RAS oncogene	16521	protein-coding gene	gene with protein product	rab-related GTP-binding protein		RAB39, member RAS oncogene family	RAB39	NA	9119394	Standard	NM_017516	NM_017516	NA	Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.443A>T	11.37:g.107832887A>T	ENSP00000322594:p.Asp148Val	NA	A8KAA4|Q8N6W2	37	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021180	0.35701	.	.	ENSG00000179331	ENST00000320578	T	0.77229	-1.08	4.97	3.83	0.44106	Small GTP-binding protein domain (1);	0.101127	0.42964	D	0.000638	T	0.68860	0.3047	L	0.38838	1.175	0.54753	D	0.999984	B	0.15719	0.014	B	0.21151	0.033	T	0.69705	-0.5073	10	0.87932	D	0	.	11.9655	0.53033	0.7684:0.2315:0.0:0.0	.	148	Q14964	RB39A_HUMAN	V	148	ENSP00000322594:D148V	ENSP00000322594:D148V	D	+	2	0	RAB39	107338097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.952000	0.40343	2.064000	0.61679	0.482000	0.46254	GAC	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389423.1		+	ENST00000320578.2	Missense_Mutation	SNP	11 : 107832887 - 107832887 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	527	93
RASSF2	9770	broad.mit.edu	37	20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-	-	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	181	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(158;1891 3343 50738)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265	9770	9770			9883	protein-coding gene	gene with protein product	centromere protein 34	609492			NA	8724849, 15806169	Standard	NM_014737	NM_014737	NA	Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.542_560delCCGTGTTCACACCAGCCTA	20.37:g.4770321_4770339delTAGGCTGGTGTGAACACGG	ENSP00000368710:p.Ser181fs	NA	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2	37	CCDS13083.1																																																																																			RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077828.1		-	ENST00000379400.3	Frame_Shift_Del	DEL	20 : 4770321 - 4770339 - PAAD-TCGA-IB-7652-Tumor-SM-2NW78	240	17
SCN1A	6323	broad.mit.edu	37	2	166848439	166848439	+	Silent	SNP	G	G	A	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000409050.1	-	26	5261	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	SCN1A_ENST00000423058.2_Silent_p.I1782I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1782I|SCN1A_ENST00000375405.3_Silent_p.I1771I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1782						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATGACCGCGATGTACATGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	123			NA	NA	2		NA											NA				166848439		2203	4297	6500	SO:0001819	synonymous_variant			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.5262C>T	2.37:g.166848439G>A		NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1																																																																																			SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Silent	SNP	2 : 166848439 - 166848439 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	927	192
SEMA6B	10501	broad.mit.edu	37	19	4555520	4555520	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000586965.1_Silent_p.Y176Y|SEMA6B_ENST00000301293.3_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	176	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGGGTCGTACGGGCAGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	101	105			NA	NA	19		NA											NA				4555520		2203	4300	6503	SO:0001819	synonymous_variant			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680	10501	10501		Semaphorins	10739	protein-coding gene	gene with protein product	Sema VIb, semaphorin Z, semaphorin VIB	608873		SEMAN	NA	9361278	Standard	NM_032108	NM_032108	NA	Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.528C>T	19.37:g.4555520G>A		NA	A5PKU4|Q9NRK9	37	CCDS12131.1																																																																																			SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458656.2		-	ENST00000586582.1	Silent	SNP	19 : 4555520 - 4555520 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	261	43
SLC22A11	55867	broad.mit.edu	37	11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000377585.3	+	4	1065	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000301891.4_Missense_Mutation_p.L252Q			Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	252					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCCTTTGCCCTGCGGGACTGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	80	78			NA	NA	11		NA											NA				64329841		2201	4297	6498	SO:0001583	missense			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065	55867	55867		Solute carriers	18120	protein-coding gene	gene with protein product		607097			NA	10660625, 15576633, 17229912	Standard	NM_018484	NM_018484	NA	Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000377585.3:c.755T>A	11.37:g.64329841T>A	ENSP00000366809:p.Leu252Gln	NA	A8K426|Q53GR2|Q6ZP72|Q8NBU4	37		.	.	.	.	.	.	.	.	.	.	.	18.76	3.692873	0.68271	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.68181	-0.31;-0.31;-0.31	3.58	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173586	0.38326	U	0.001730	T	0.81772	0.4893	M	0.86502	2.82	0.38636	D	0.951485	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.969;0.998;0.98;0.98	D	0.85294	0.1069	10	0.87932	D	0	.	10.2369	0.43288	0.0:0.0:0.0:1.0	.	252;46;252;252	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	Q	252	ENSP00000301891:L252Q;ENSP00000366809:L252Q;ENSP00000366804:L252Q	ENSP00000301891:L252Q	L	+	2	0	SLC22A11	64086417	0.996000	0.38824	1.000000	0.80357	0.752000	0.42762	6.548000	0.73896	1.512000	0.48834	0.454000	0.30748	CTG	SLC22A11-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000141960.1		+	ENST00000377585.3	Missense_Mutation	SNP	11 : 64329841 - 64329841 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	660	11
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like.					integral to membrane|plasma membrane	transporter activity	p.C506S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333		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)											45	46	46			NA	NA	5		NA											NA				101748803		2203	4293	6496	SO:0001583	missense			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359	133482	133482		Solute carriers	23613	protein-coding gene	gene with protein product	cancer/testis antigen 48	613365			NA		Standard	NM_173488	XM_005271874	NA	Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1517G>A	5.37:g.101748803C>T	ENSP00000421339:p.Cys506Tyr	NA	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077737	0.55753	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.86264	0.5891	H	0.97440	4.005	0.50313	D	0.999866	P;D;D	0.89917	0.933;1.0;0.957	P;D;P	0.87578	0.479;0.998;0.688	D	0.90071	0.4163	10	0.56958	D	0.05	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	444;253;506	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	506;506;444;253;253	ENSP00000421339:C506Y;ENSP00000369135:C506Y;ENSP00000373671:C444Y;ENSP00000421990:C253Y;ENSP00000369138:C253Y	ENSP00000369135:C506Y	C	-	2	0	SLCO6A1	101776702	0.999000	0.42202	0.564000	0.28396	0.046000	0.14306	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	TGT	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370335.1		-	ENST00000506729.1	Missense_Mutation	SNP	5 : 101748803 - 101748803 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	210	36
SPARC	6678	broad.mit.edu	37	5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	147	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TTGCAAGGCCCGATGTAGTCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	93	98			NA	NA	5		NA											NA				151049237		2203	4300	6503	SO:0001583	missense				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140	6678	6678			11219	protein-coding gene	gene with protein product	cysteine-rich protein, osteonectin	182120		ON	NA	2838412, 3410046	Standard	NM_003118	NM_003118	NA	Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.439G>A	5.37:g.151049237C>T	ENSP00000231061:p.Gly147Arg	NA	D3DQH9|Q6IBK4	37	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075918	0.94000	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	D;D;D	0.87650	-2.28;-2.28;-2.28	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.093699	0.85682	D	0.000000	D	0.95252	0.8460	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95663	0.8717	10	0.87932	D	0	-29.1188	19.8471	0.96713	0.0:1.0:0.0:0.0	.	147	P09486	SPRC_HUMAN	R	147;56;56	ENSP00000231061:G147R;ENSP00000440127:G56R;ENSP00000428119:G56R	ENSP00000231061:G147R	G	-	1	0	SPARC	151029430	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.311000	0.78958	2.688000	0.91661	0.655000	0.94253	GGG	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252430.1		-	ENST00000231061.4	Missense_Mutation	SNP	5 : 151049237 - 151049237 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	295	28
SPTBN4	57731	broad.mit.edu	37	19	41009810	41009810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:41009810C>T	ENST00000352632.3	+	12	1522	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	479					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGACATTGCGGCCTACGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	19		NA											NA				41009810		2203	4300	6503	SO:0001583	missense			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460	57731	57731		Pleckstrin homology (PH) domain containing	14896	protein-coding gene	gene with protein product		606214			NA	11086001	Standard		NM_020971	NA	Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1436C>T	19.37:g.41009810C>T	ENSP00000263373:p.Ala479Val	NA	Q9H1K7|Q9H1K8|Q9H1K9|Q9H3G8|Q9HCD0	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.792428	0.31685	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54279	0.58;0.58;0.58	4.2	4.2	0.49525	.	0.093190	0.41194	U	0.000921	T	0.41743	0.1172	L	0.39566	1.225	0.80722	D	1	P;P	0.40032	0.699;0.501	B;B	0.36719	0.231;0.054	T	0.29274	-1.0017	10	0.16896	T	0.51	.	15.4391	0.75168	0.0:1.0:0.0:0.0	.	479;479	Q9H254;Q71S06	SPTN4_HUMAN;.	V	479	ENSP00000263373:A479V;ENSP00000340345:A479V;ENSP00000340741:A479V	ENSP00000340345:A479V	A	+	2	0	SPTBN4	45701650	0.786000	0.28738	0.982000	0.44146	0.761000	0.43186	4.710000	0.61873	2.180000	0.69256	0.486000	0.48141	GCG	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462559.2		+	ENST00000352632.3	Missense_Mutation	SNP	19 : 41009810 - 41009810 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	173	5
SVEP1	79987	broad.mit.edu	37	9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000374469.1	-	38	8927	c.8664G>C	c.(8662-8664)aaG>aaC	p.K2888N	SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000401783.2_Missense_Mutation_p.K2911N			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2911	Sushi 24.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGTTACTTCCTTCATGAAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	104	104			NA	NA	9		NA											NA				113169147		2061	4208	6269	SO:0001583	missense			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	79987	79987			15985	protein-coding gene	gene with protein product		611691	chromosome 9 open reading frame 13	C9orf13	NA		Standard		NM_153366	NA	Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000374469.1:c.8664G>C	9.37:g.113169147C>G	ENSP00000363593:p.Lys2888Asn	NA	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	37		.	.	.	.	.	.	.	.	.	.	C	12.40	1.927013	0.34002	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.285646	0.43919	D	0.000511	T	0.44808	0.1311	L	0.31526	0.94	0.80722	D	1	P	0.40578	0.722	B	0.39617	0.305	T	0.29912	-0.9996	10	0.30854	T	0.27	.	5.6066	0.17383	0.0:0.6236:0.0:0.3764	.	2911	Q4LDE5	SVEP1_HUMAN	N	2911;2888;837	ENSP00000384917:K2911N;ENSP00000363593:K2888N;ENSP00000297826:K837N	ENSP00000297826:K837N	K	-	3	2	SVEP1	112208968	0.920000	0.31207	1.000000	0.80357	0.876000	0.50452	-0.039000	0.12124	1.303000	0.44873	0.591000	0.81541	AAG	SVEP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000053622.1		-	ENST00000374469.1	Missense_Mutation	SNP	9 : 113169147 - 113169147 G PAAD-TCGA-IB-7652-Tumor-SM-2NW78	771	95
TAS2R42	353164	broad.mit.edu	37	12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAGGAACTGAGCTTCAAATTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(15;352 722 10077 19546 48810)							NA				0													62	65	64			NA	NA	12		NA											NA				11338898		2203	4300	6503	SO:0001583	missense			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136	353164	353164		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	18888	protein-coding gene	gene with protein product		613966			NA	12679530	Standard	NM_181429	NM_181429	NA	Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.646C>T	12.37:g.11338898G>A	ENSP00000334050:p.Leu216Phe	NA	A2RRP4|Q645X0	37	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472116	0.12461	.	.	ENSG00000186136	ENST00000334266	T	0.00832	5.64	3.46	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.571166	0.14537	N	0.313489	T	0.02304	0.0071	M	0.69248	2.105	0.09310	N	1	P	0.41475	0.751	P	0.50860	0.652	T	0.38650	-0.9651	10	0.49607	T	0.09	.	6.0575	0.19819	0.0:0.2103:0.5725:0.2171	.	216	Q7RTR8	T2R42_HUMAN	F	216	ENSP00000334050:L216F	ENSP00000334050:L216F	L	-	1	0	TAS2R42	11230165	0.000000	0.05858	0.250000	0.24296	0.001000	0.01503	0.335000	0.19806	0.302000	0.22762	-1.083000	0.02208	CTC	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400243.1		-	ENST00000334266.1	Missense_Mutation	SNP	12 : 11338898 - 11338898 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	507	89
TCEAL5	340543	broad.mit.edu	37	X	102529240	102529240	+	Silent	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTCACTTTGTGGCTTGTCCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	117	126			NA	NA	X		NA											NA				102529240		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065	340543	340543			22282	protein-coding gene	gene with protein product					NA	16221301	Standard	XM_291334	NM_001012979	NA	Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.252A>T	X.37:g.102529240T>A		NA	A2RUJ4	37	CCDS35356.1																																																																																			TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057696.1		-	ENST00000372680.1	Silent	SNP	X : 102529240 - 102529240 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	865	163
TERT	7015	broad.mit.edu	37	5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGTGCCGGGTTGGCTGC	0.662		NA							TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	29	27			NA	NA	5		NA											NA				1253880		2170	4259	6429	SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362	NA	7015			11730	protein-coding gene	gene with protein product		187270			NA	9252327	Standard		NM_198253	NA	Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3362C>A	5.37:g.1253880G>T	ENSP00000309572:p.Pro1121Gln	NA	O14783|Q2XS35|Q8N6C3|Q8NG46	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	16.53	3.147750	0.57151	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.97870	-4.58;-4.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	10	0.66056	D	0.02	-17.5136	11.4366	0.50072	0.0:0.0:1.0:0.0	.	1058;1121	O14746-3;O14746	.;TERT_HUMAN	Q	1121;1058	ENSP00000309572:P1121Q;ENSP00000334346:P1058Q	ENSP00000309572:P1121Q	P	-	2	0	TERT	1306880	0.987000	0.35691	0.320000	0.25306	0.012000	0.07955	2.740000	0.47418	2.134000	0.65973	0.561000	0.74099	CCG	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206729.2		-	ENST00000310581.5	Missense_Mutation	SNP	5 : 1253880 - 1253880 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	101	22
TIMM50	92609	broad.mit.edu	37	19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000314349.4	+	11	1488	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617		NA											G	2	9e-04	NA	NA	2184	NA	0.9998	,	,	NA	4e-04	0.0026	NA	NA	9e-04	0.8864	EXOME	NA	NA	0.0012	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											52	46	48			NA	NA	19		NA											NA				39980444		2203	4300	6503	SO:0001583	missense			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197	92609	92609		Serine/threonine phosphatases / CTD aspartate-based phosphatases	23656	protein-coding gene	gene with protein product		607381	translocase of inner mitochondrial membrane 50 homolog (yeast)		NA	12437925	Standard	NM_001001563	NM_001001563	NA	Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000314349.4:c.1355G>A	19.37:g.39980444G>A	ENSP00000318115:p.Arg452His	NA	Q6QA00|Q96FJ5|Q96GY2|Q9H370	37	CCDS33023.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.56	3.650107	0.67472	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.47716	1.5	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	P;D	0.63703	0.512;0.917	T	0.65138	-0.6241	8	.	.	.	-17.7449	13.3117	0.60384	0.0775:0.0:0.9225:0.0	.	349;452	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	H	452;236	.	.	R	+	2	0	TIMM50	44672284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.227000	0.72282	1.360000	0.45960	0.655000	0.94253	CGC	TIMM50-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464935.1		+	ENST00000314349.4	Missense_Mutation	SNP	19 : 39980444 - 39980444 A PAAD-TCGA-IB-7652-Tumor-SM-2NW78	58	4
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50			NA	NA	17		NA											NA				7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000391127:p.Arg175His	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	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578406 - 7578406 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	247	57
U2SURP	23350	broad.mit.edu	37	3	142741878	142741878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142741878C>T	ENST00000473835.2	+	12	1292	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	U2SURP_ENST00000397933.2_Missense_Mutation_p.H7Y|U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	401	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGTTACCGCCACCTAAAAAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	30	30			NA	NA	3		NA											NA				142741878		1843	4093	5936	SO:0001583	missense			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714	23350	23350		RNA binding motif (RRM) containing	30855	protein-coding gene	gene with protein product	functional spliceosome-associated protein a, Ser/Arg-rich domain protein, 140 kDa, U2 associated SR140 protein				NA	9205841, 12234937	Standard	NM_001080415	NM_001080415	NA	Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1202C>T	3.37:g.142741878C>T	ENSP00000418563:p.Pro401Leu	NA	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	37	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639128|1.639128	0.29157|0.29157	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000397933|ENST00000473835;ENST00000319822;ENST00000493598	.|T;T	.|0.14144	.|2.53;2.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046853	.|0.85682	.|D	.|0.000000	T|T	0.14917|0.14917	0.0360|0.0360	L|L	0.48642|0.48642	1.525|1.525	0.37451|0.37451	D|D	0.914836|0.914836	B|B;B;B	0.15473|0.10296	0.013|0.003;0.002;0.001	B|B;B;B	0.17098|0.10450	0.017|0.002;0.005;0.002	T|T	0.03148|0.03148	-1.1067|-1.1067	8|10	0.87932|0.45353	D|T	0|0.12	-11.0642|-11.0642	13.5241|13.5241	0.61584|0.61584	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	7|401;400;401	O15042-3|B4DK81;O15042-2;O15042	.|.;.;SR140_HUMAN	Y|L	7|401;401;400	.|ENSP00000418563:P401L;ENSP00000422011:P400L	ENSP00000381027:H7Y|ENSP00000322376:P401L	H|P	+|+	1|2	0|0	U2SURP|U2SURP	144224568|144224568	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.600000|5.600000	0.67599|0.67599	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CAC|CCA	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354603.2		+	ENST00000473835.2	Missense_Mutation	SNP	3 : 142741878 - 142741878 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	77	8
VPS13D	55187	broad.mit.edu	37	1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	242					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGAGCCTGTGTTTGCATC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	159	163			NA	NA	1		NA											NA				12316444		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.724G>C	1.37:g.12316444G>C	ENSP00000350854:p.Val242Leu	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748117	0.69533	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41400	1.0;1.0	5.94	5.03	0.67393	.	0.125158	0.53938	D	0.000060	T	0.37598	0.1009	L	0.50333	1.59	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.30572	0.117;0.055	T	0.26744	-1.0094	10	0.54805	T	0.06	.	9.8912	0.41292	0.1488:0.0:0.8512:0.0	.	242;242	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	242	ENSP00000348666:V242L;ENSP00000350854:V242L	ENSP00000348666:V242L	V	+	1	0	VPS13D	12239031	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	5.297000	0.65704	2.820000	0.97059	0.650000	0.86243	GTG	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12316444 - 12316444 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	1034	317
ZEB1	6935	broad.mit.edu	37	10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000320985.10	+	7	2661	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	851					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGTCAGCCCTGCAGTCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(40;423 959 14296 36701 49589)							NA				0													83	83	83			NA	NA	10		NA											NA				31810814		2203	4300	6503	SO:0001583	missense			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516	6935	6935		Zinc fingers, C2H2-type, Homeoboxes / ZF class	11642	protein-coding gene	gene with protein product		189909	transcription factor 8 (represses interleukin 2 expression), posterior polymorphous corneal dystrophy 3	TCF8, PPCD3	NA	1427828, 1840704, 15384081, 16252232	Standard	NM_030751	NM_001128128	NA	Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2551C>T	10.37:g.31810814C>T	ENSP00000319248:p.Pro851Ser	NA	Q12924|Q13800|Q5T968	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067296	0.36470	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13778	2.86;2.57;2.59;2.56;2.6	5.68	4.78	0.61160	.	0.000000	0.56097	D	0.000028	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	B;D;D;P;D;B;D;P	0.89917	0.328;1.0;1.0;0.615;1.0;0.04;1.0;0.615	B;D;D;B;D;B;D;B	0.87578	0.076;0.998;0.996;0.158;0.996;0.034;0.996;0.158	T	0.03566	-1.1024	10	0.15499	T	0.54	-7.6384	15.0713	0.72040	0.0:0.9318:0.0:0.0682	.	784;851;835;851;851;831;852;851	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	633;851;852;846;784;851;831;742;835	ENSP00000444282:P633S;ENSP00000354487:P852S;ENSP00000444891:P784S;ENSP00000319248:P851S;ENSP00000391612:P835S	ENSP00000319248:P851S	P	+	1	0	ZEB1	31850820	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.779000	0.55379	1.534000	0.49203	0.650000	0.86243	CCT	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419083.2		+	ENST00000320985.10	Missense_Mutation	SNP	10 : 31810814 - 31810814 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	365	67
ZFYVE9	9372	broad.mit.edu	37	1	52740258	52740258	+	Splice_Site	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000371591.1	+	7	2877		c.e7+2		ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000287727.3_Splice_Site	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	NA					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAAAAGGAGGTAAGTGGACTA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	109	113			NA	NA	1		NA											NA				52740258		2203	4300	6503	SO:0001630	splice_region_variant			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077	9372	9372		Zinc fingers, FYVE domain containing	6775	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 173	603755	MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor	MADHIP	NA	9865696	Standard	NM_007324	NM_007324	NA	Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2746+2T>C	1.37:g.52740258T>C		NA	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598319	0.46318	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	5.27	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3915	0.55360	0.0:0.0:0.1407:0.8593	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE9	52512846	1.000000	0.71417	0.998000	0.56505	0.451000	0.32288	7.744000	0.85034	0.832000	0.34804	-0.313000	0.08912	.	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022083.1	Intron	+	ENST00000371591.1	Splice_Site	SNP	1 : 52740258 - 52740258 C PAAD-TCGA-IB-7652-Tumor-SM-2NW78	524	90
ZNF521	25925	broad.mit.edu	37	18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	764					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGTCAGTTTCGTTGCGGAAG	0.473		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													97	85	89			NA	NA	18		NA											NA				22805592		2203	4300	6503	SO:0001583	missense			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2290G>A	18.37:g.22805592C>T	ENSP00000354794:p.Glu764Lys	NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334661	0.24253	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08370	3.1;3.13	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.04116	-0.275	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.41752	-0.9491	10	0.07482	T	0.82	-36.5484	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764	Q96K83	ZN521_HUMAN	K	764;798;764	ENSP00000354794:E764K;ENSP00000382352:E764K	ENSP00000354794:E764K	E	-	1	0	ZNF521	21059590	1.000000	0.71417	0.973000	0.42090	0.406000	0.30931	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Missense_Mutation	SNP	18 : 22805592 - 22805592 T PAAD-TCGA-IB-7652-Tumor-SM-2NW78	309	29
