#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
STAG2	10735	genome.wustl.edu	37	X	123200288	123200288	+	Splice_Site	SNP	T	T	C			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chrX:123200288T>C	ENST00000371160.1	+	23	2555		c.e23+2		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTACAAAGGTTTGTGGTGGT	0.343																																						dbGAP											0			X											80.0	62.0	68.0					X																	123200288		2203	4300	6503	123027969	SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2265+2T>C	X.37:g.123200288T>C		63	3.08	2		0	100.00	100	123027969	11	85.33	64	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	-	e21+2	ENST00000371160.1	37	c.2265+2	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	T	19.46	3.830953	0.71258	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9839	0.58581	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123027969	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.997000	0.88414	1.849000	0.53698	0.486000	0.48141	.	-	-		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	T	NM_006603	Intron	123027969	+1	no_errors	NM_001042749.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	C
ATP2B2	491	genome.wustl.edu	37	3	10387072	10387072	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr3:10387072G>A	ENST00000352432.4	-	17	2768	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T855M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T855M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T900M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T886M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	900					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCCACCTGCGTGATGCAGGC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0			3											94.0	77.0	83.0					3																	10387072		2203	4300	6503	10362072	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2699C>T	3.37:g.10387072G>A	ENSP00000324172:p.Thr900Met	375	3.60	14		NA	NA	NA	10362072	125	38.12	77	O00766|Q12994|Q16818	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.T900M	ENST00000352432.4	37	c.2699	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107114	0.77096	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.15	4.15	0.48705	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.995	D;P;P	0.85130	0.997;0.743;0.852	D	0.92602	0.6092	10	0.66056	D	0.02	-17.7409	16.8194	0.85742	0.0:0.0:1.0:0.0	.	835;867;900	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	900;855;855;900;886;835;89;756;900	ENSP00000324172:T900M;ENSP00000373311:T855M;ENSP00000380267:T855M;ENSP00000353414:T900M;ENSP00000344677:T886M;ENSP00000414854:T756M	ENSP00000342954:T900M	T	-	2	0	ATP2B2	10362072	1.000000	0.71417	0.992000	0.48379	0.563000	0.35712	9.772000	0.98984	2.038000	0.60285	0.555000	0.69702	ACG	-	superfamily_Calcium ATPase transmembrane domain M		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10362072	-1	no_errors	NM_001001331.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
APEH	327	genome.wustl.edu	37	3	49723916	49723916	+	IGR	SNP	T	T	G	rs201139286	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr3:49723916T>G	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_Splice_Site|MST1_ENST00000449682.2_Splice_Site|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000545762.1_Splice_Site	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGGACCCTTAGATGGACC	0.657																																						dbGAP											0			3											27.0	29.0	28.0					3																	49723916		2202	4296	6498	49698920	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723916T>G		66	2.94	2		0	0.00	0	49698920	29	29.27	12	Q9BQ33|Q9P0Y2	Splice_Site	SNP	-	e8-2	ENST00000296456.5	37	c.806-2	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290595	0.40494	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	.	.	.	4.94	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1429	0.31093	0.0:0.1325:0.0:0.8675	.	.	.	.	.	-1	.	.	.	-	.	.	MST1	49698920	0.505000	0.26131	0.435000	0.26784	0.223000	0.24884	2.574000	0.46016	1.984000	0.57885	0.533000	0.62120	.	-	-		0.657	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	protein_coding	OTTHUMT00000346415.2	T			49698920	-1	no_errors	NM_020998.3	genbank	human	validated	54_36p	splice_site	SNP	0.046	G
ADAMTS9	56999	genome.wustl.edu	37	3	64532572	64532572	+	Silent	SNP	A	A	T			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr3:64532572A>T	ENST00000498707.1	-	32	5268	c.4926T>A	c.(4924-4926)atT>atA	p.I1642I	ADAMTS9_ENST00000295903.4_Silent_p.I1614I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1642	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCGGTGTAAATCTCGCTGC	0.537																																						dbGAP											0			3											142.0	127.0	132.0					3																	64532572		2203	4300	6503	64507612	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4926T>A	3.37:g.64532572A>T		130	3.60	5		NA	NA	NA	64507612	150	49.50	148	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	"HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (""zincins"") catalytic domain"	p.I1642	ENST00000498707.1	37	c.4926	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	A	9.970	1.225143	0.22457	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.6	3.22	0.36961	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50617	-0.8807	4	.	.	.	.	8.32	0.32124	0.7846:0.0:0.2154:0.0	.	.	.	.	Y	698	.	.	F	-	2	0	ADAMTS9	64507612	0.931000	0.31567	1.000000	0.80357	0.967000	0.64934	0.130000	0.15850	0.405000	0.25532	-0.290000	0.09829	TTT	-	HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat		0.537	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	A			64507612	-1	no_errors	NM_182920.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
ARHGEF28	64283	genome.wustl.edu	37	5	73136563	73136563	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr5:73136563C>A	ENST00000426542.2	+	10	1425	c.1405C>A	c.(1405-1407)Caa>Aaa	p.Q469K	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.Q156K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000513841.1_3'UTR			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	469					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGAAAAGGAACAAAGTCATCT	0.373																																						dbGAP											0			5											62.0	57.0	59.0					5																	73136563		1874	4106	5980	73172319	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1405C>A	5.37:g.73136563C>A	ENSP00000412175:p.Gln469Lys	118	4.07	5		NA	NA	NA	73172319	76	45.21	66	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain	p.Q469K	ENST00000426542.2	37	c.1405	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190059	0.38707	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10573	3.1;3.1;3.09;2.86;3.1;3.09;2.91	5.97	5.1	0.69264	.	.	.	.	.	T	0.13841	0.0335	L	0.59436	1.845	0.21822	N	0.999527	B;B;B;P;B	0.42296	0.172;0.062;0.049;0.775;0.082	B;B;B;B;B	0.39660	0.039;0.053;0.039;0.306;0.085	T	0.11203	-1.0597	9	0.33940	T	0.23	.	12.5439	0.56188	0.1666:0.8334:0.0:0.0	.	156;469;469;469;469	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	K	469;469;469;469;469;469;156	ENSP00000296794:Q469K;ENSP00000441913:Q469K;ENSP00000441436:Q469K;ENSP00000287898:Q469K;ENSP00000411459:Q469K;ENSP00000412175:Q469K;ENSP00000296799:Q156K	ENSP00000287898:Q469K	Q	+	1	0	RP11-428C6.1	73172319	0.995000	0.38212	0.211000	0.23655	0.726000	0.41606	4.097000	0.57741	1.517000	0.48917	-0.181000	0.13052	CAA	-	NULL		0.373	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGNEF	protein_coding	OTTHUMT00000368975.1	C			73172319	+1	no_errors	NM_001080479.1	genbank	human	provisional	54_36p	missense	SNP	0.990	A
EPPK1	83481	genome.wustl.edu	37	8	144940331	144940331	+	Missense_Mutation	SNP	C	C	T	rs200585601		TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr8:144940331C>T	ENST00000525985.1	-	2	7162	c.7091G>A	c.(7090-7092)cGg>cAg	p.R2364Q				P58107	EPIPL_HUMAN	epiplakin 1	2364						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGCCGCGCCGGTAGGCCAC	0.692																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	8						C	GLN/ARG	194,4166		0,194,1986	217.0	211.0	213.0		7091	0.7	1.0	8	dbSNP_134	213	66,8462		0,66,4198	no	missense	EPPK1	NM_031308.1	43	0,260,6184	TT,TC,CC		0.7739,4.4495,2.0174	benign	2364/2420	144940331	260,12628	2180	4264	6444	145012319	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7091G>A	8.37:g.144940331C>T	ENSP00000436337:p.Arg2364Gln	113	0.00	0		1	0.00	0	145012319	36	13.95	6	Q76E58|Q9NSU9	Missense_Mutation	SNP	HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat	p.R2339Q	ENST00000525985.1	37	c.7016		8	.	.	.	.	.	.	.	.	.	.	C	7.296	0.612142	0.14066	0.044495	0.007739	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	4.42	0.661	0.17874	.	.	.	.	.	T	0.14184	0.0343	N	0.03903	-0.33	0.21579	N	0.999636	B	0.20550	0.046	B	0.12837	0.008	T	0.14254	-1.0479	9	0.02654	T	1	.	7.4216	0.27075	0.0:0.2871:0.0:0.7129	.	2364	E9PPU0	.	Q	2364	ENSP00000436337:R2364Q	ENSP00000436337:R2364Q	R	-	2	0	EPPK1	145012319	0.742000	0.28228	0.982000	0.44146	0.955000	0.61496	1.358000	0.34102	0.024000	0.15214	-0.482000	0.04802	CGG	-	HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	C	NM_031308		145012319	-1	no_stop_codon:bad_bp_length_for_coding_region	NM_031308.1	genbank	human	provisional	54_36p	missense	SNP	0.999	T
WT1	7490	genome.wustl.edu	37	11	32417802	32417802	+	Splice_Site	SNP	C	C	G			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr11:32417802C>G	ENST00000379079.2	-	7	887		c.e7+1		WT1_ENST00000332351.3_Splice_Site|WT1_ENST00000448076.3_Splice_Site|WT1_ENST00000530998.1_Splice_Site	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCACACTTACCAGTGTGCTT	0.502			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	0			11											110.0	94.0	100.0					11																	32417802		2202	4299	6501	32374378	SO:0001630	splice_region_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.613+1G>C	11.37:g.32417802C>G		150	10.71	18		0	100.00	5	32374378	8	89.61	69	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Splice_Site	SNP	-	e7+1	ENST00000379079.2	37	c.1249+1	CCDS55751.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614218	0.87359	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527882	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WT1	32374378	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	.	-	-		0.502	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	C	NM_000378	Intron	32374378	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G
ALPK3	57538	genome.wustl.edu	37	15	85401206	85401206	+	Silent	SNP	G	G	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr15:85401206G>A	ENST00000258888.5	+	6	4010	c.3843G>A	c.(3841-3843)gaG>gaA	p.E1281E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1281					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAGACGAGGAGGACCCTGGGC	0.677																																						dbGAP											0			15											15.0	13.0	14.0					15																	85401206		2178	4260	6438	83202210	SO:0001819	synonymous_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3843G>A	15.37:g.85401206G>A		122	3.17	4		NA	NA	NA	83202210	80	46.36	70	Q9P2L6	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin	p.E1281	ENST00000258888.5	37	c.3843	CCDS10333.1	15																																																																																			-	NULL		0.677	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	protein_coding	OTTHUMT00000308997.1	G	NM_020778		83202210	+1	no_errors	NM_020778.4	genbank	human	validated	54_36p	silent	SNP	0.865	A
ADAMTS17	170691	genome.wustl.edu	37	15	100589063	100589063	+	Splice_Site	SNP	G	G	A	rs61757475	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr15:100589063G>A	ENST00000268070.4	-	18	2695	c.2590C>T	c.(2590-2592)Cgg>Tgg	p.R864W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	864	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCTTCTTACCGTGACTGGCAG	0.577																																						dbGAP											0			15						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	102.0	97.0	99.0		2590	1.0	1.0	15	dbSNP_129	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	ADAMTS17	NM_139057.2	101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging	864/1096	100589063	4,13002	2203	4300	6503	98406586	SO:0001630	splice_region_variant	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2591+1C>T	15.37:g.100589063G>A		208	7.52	17		NA	NA	NA	98406586	61	38.38	38	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	"HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (""zincins"") catalytic domain"	p.R864W	ENST00000268070.4	37	c.2590	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468888	0.43839	4.54E-4	2.33E-4	ENSG00000140470	ENST00000268070	T	0.61510	0.1	4.59	0.971	0.19698	.	0.083012	0.45867	N	0.000325	T	0.63414	0.2509	H	0.94925	3.6	0.58432	D	0.999998	B	0.15473	0.013	B	0.06405	0.002	T	0.63278	-0.6673	10	0.66056	D	0.02	.	7.9905	0.30237	0.0837:0.0:0.4823:0.434	rs61757475	864	Q8TE56	ATS17_HUMAN	W	864	ENSP00000268070:R864W	ENSP00000268070:R864W	R	-	1	2	ADAMTS17	98406586	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	0.740000	0.26188	0.342000	0.23796	0.655000	0.94253	CGG	-	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	G	NM_139057	Missense_Mutation	98406586	-1	no_errors	NM_139057.2	genbank	human	reviewed	54_36p	missense	SNP	0.986	A
ZNF646	9726	genome.wustl.edu	37	16	31090269	31090269	+	Missense_Mutation	SNP	C	C	T	rs75586809	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr16:31090269C>T	ENST00000394979.2	+	1	3047	c.2624C>T	c.(2623-2625)gCg>gTg	p.A875V	ZNF646_ENST00000300850.5_Missense_Mutation_p.A875V			O15015	ZN646_HUMAN	zinc finger protein 646	875					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCTGGGGAGGCGACCTCAGCA	0.642													C|||	24	0.00479233	0.0008	0.0115	5008	,	,		21323	0.0		0.0139	False		,,,				2504	0.001					dbGAP											0			16						C	VAL/ALA	20,4374	26.2+/-53.5	0,20,2177	51.0	54.0	53.0		2624	2.0	0.3	16	dbSNP_131	53	149,8451	71.3+/-133.9	1,147,4152	yes	missense	ZNF646	NM_014699.3	64	1,167,6329	TT,TC,CC		1.7326,0.4552,1.3006	benign	875/1833	31090269	169,12825	2197	4300	6497	30997770	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2624C>T	16.37:g.31090269C>T	ENSP00000378429:p.Ala875Val	385	11.24	49		3	70.00	7	30997770	43	45.78	38	Q8IVD8	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A875V	ENST00000394979.2	37	c.2624		16	14	0.00641025641025641	0	0.0	4	0.011049723756906077	0	0.0	10	0.013192612137203167	C	10.60	1.394311	0.25205	0.004552	0.017326	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09538	2.97;2.99	5.1	2.01	0.26516	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.21762	N	0.999553	B	0.24768	0.111	B	0.17722	0.019	T	0.44757	-0.9307	9	0.09590	T	0.72	-4.0386	7.7886	0.29106	0.0:0.6518:0.0:0.3482	.	875	O15015-2	.	V	875	ENSP00000300850:A875V;ENSP00000378429:A875V	ENSP00000300850:A875V	A	+	2	0	ZNF646	30997770	0.000000	0.05858	0.330000	0.25442	0.849000	0.48306	-1.042000	0.03539	0.163000	0.19507	0.563000	0.77884	GCG	-	NULL		0.642	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	protein_coding	OTTHUMT00000108510.2	C	NM_014699		30997770	+1	no_errors	NM_014699.3	genbank	human	validated	54_36p	missense	SNP	0.122	T
TOX3	27324	genome.wustl.edu	37	16	52479987	52479987	+	Silent	SNP	A	A	T			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr16:52479987A>T	ENST00000219746.9	-	5	1109	c.825T>A	c.(823-825)ggT>ggA	p.G275G	TOX3_ENST00000407228.3_Silent_p.G270G	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	275					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGGGTTTTGACCTTTAATTG	0.438																																						dbGAP											0			16											113.0	108.0	109.0					16																	52479987		1922	4162	6084	51037488	SO:0001819	synonymous_variant	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.825T>A	16.37:g.52479987A>T		364	2.67	10		NA	NA	NA	51037488	224	40.11	152	B4DRD0|B5MCW4	Silent	SNP	HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box	p.G275	ENST00000219746.9	37	c.825	CCDS54009.1	16																																																																																			-	HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box		0.438	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	protein_coding	OTTHUMT00000422534.1	A	XM_049037		51037488	-1	no_errors	NM_001080430.1	genbank	human	provisional	54_36p	silent	SNP	0.973	T
HSD17B1	3292	genome.wustl.edu	37	17	40706488	40706488	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr17:40706488A>G	ENST00000585807.1	+	5	4325	c.605A>G	c.(604-606)gAg>gGg	p.E202G	RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.E203G	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	202					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCAGCCCAGAGGAGGTGCTG	0.642																																						dbGAP											0			17											56.0	44.0	48.0					17																	40706488		2203	4300	6503	37960014	SO:0001583	missense	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.605A>G	17.37:g.40706488A>G	ENSP00000466799:p.Glu202Gly	160	7.47	13		10	23.08	3	37960014	36	51.28	40	B3KXS1|Q2M2L8	Missense_Mutation	SNP	HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains	p.E202G	ENST00000585807.1	37	c.605	CCDS11428.1	17	.	.	.	.	.	.	.	.	.	.	A	4.774	0.143837	0.09134	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.32	2.19	0.27852	NAD(P)-binding domain (1);	0.579077	0.19084	N	0.123161	T	0.06462	0.0166	N	0.00260	-1.75	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37056	-0.9722	9	0.15499	T	0.54	.	6.5902	0.22642	0.2247:0.0:0.7753:0.0	.	233;202	B3RFR9;P14061	.;DHB1_HUMAN	G	202	.	ENSP00000225929:E202G	E	+	2	0	HSD17B1	37960014	0.087000	0.21565	0.004000	0.12327	0.001000	0.01503	0.774000	0.26675	0.462000	0.27095	-0.608000	0.04076	GAG	-	superfamily_NAD(P)-binding Rossmann-fold domains		0.642	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	protein_coding	OTTHUMT00000450392.1	A	NM_000413		37960014	+1	no_errors	NM_000413.2	genbank	human	validated	54_36p	missense	SNP	0.008	G
TMEM104	54868	genome.wustl.edu	37	17	72791224	72791224	+	Silent	SNP	G	G	A	rs117688715		TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr17:72791224G>A	ENST00000335464.5	+	7	663	c.501G>A	c.(499-501)gtG>gtA	p.V167V	TMEM104_ENST00000582773.1_Silent_p.V167V|TMEM104_ENST00000417024.2_Silent_p.V180V|TMEM104_ENST00000582330.1_Silent_p.V167V	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	167						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTGCTGCCGTGCCCTTCTCCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18694	0.0		0.001	False		,,,				2504	0.0					dbGAP											0			17						G		1,4405	2.1+/-5.4	0,1,2202	184.0	150.0	161.0		501	4.1	1.0	17	dbSNP_132	161	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM104	NM_017728.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		167/497	72791224	4,13002	2203	4300	6503	70302819	SO:0001819	synonymous_variant	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.501G>A	17.37:g.72791224G>A		604	5.46	35		12	52.00	13	70302819	126	47.37	117	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	HMMPfam_Aa_trans	p.V167	ENST00000335464.5	37	c.501	CCDS32723.1	17																																																																																			-	NULL		0.567	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	protein_coding	OTTHUMT00000444442.1	G	NM_017728		70302819	+1	no_errors	NM_017728.3	genbank	human	validated	54_36p	silent	SNP	1.000	A
FKBP8	23770	genome.wustl.edu	37	19	18652580	18652580	+	Silent	SNP	C	C	T	rs61742106	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr19:18652580C>T	ENST00000596558.2	-	2	310	c.201G>A	c.(199-201)gaG>gaA	p.E67E	FKBP8_ENST00000597960.3_Silent_p.E67E|FKBP8_ENST00000610101.1_Silent_p.E67E|FKBP8_ENST00000453489.2_Silent_p.E96E|FKBP8_ENST00000222308.4_Silent_p.E67E|FKBP8_ENST00000608443.1_Silent_p.E67E			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	67	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCCCAGGCTGCTCAGCCTCCT	0.667													C|||	14	0.00279553	0.0015	0.0029	5008	,	,		15804	0.0		0.0099	False		,,,				2504	0.0					dbGAP											0			19						C		9,4397	15.5+/-35.6	0,9,2194	27.0	28.0	28.0		201	1.8	0.9	19	dbSNP_129	28	77,8523	44.0+/-102.2	0,77,4223	no	coding-synonymous	FKBP8	NM_012181.3		0,86,6417	TT,TC,CC		0.8953,0.2043,0.6612		67/414	18652580	86,12920	2203	4300	6503	18513580	SO:0001819	synonymous_variant	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.201G>A	19.37:g.18652580C>T		606	6.05	39		39	45.83	33	18513580	47	40.00	32	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	HMMPfam_FKBP_C,HMMPfam_TPR_1,superfamily_SSF48452,superfamily_SSF54534	p.E67	ENST00000596558.2	37	c.201		19																																																																																			-	superfamily_SSF54534		0.667	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	protein_coding	OTTHUMT00000466374.3	C	NM_012181		18513580	-1	no_errors	NM_012181.3	genbank	human	reviewed	54_36p	silent	SNP	0.994	T
EGLN2	112398	genome.wustl.edu	37	19	41306984	41306984	+	Silent	SNP	G	G	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr19:41306984G>A	ENST00000593726.1	+	1	1535	c.507G>A	c.(505-507)gcG>gcA	p.A169A	CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.A169A|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.A169A			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	169					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TGGAGGAGGCGCTGCCCTCTG	0.667																																						dbGAP											0			19											44.0	47.0	46.0					19																	41306984		2203	4300	6503	45998824	SO:0001819	synonymous_variant	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.507G>A	19.37:g.41306984G>A		158	0.63	1		8	50.00	8	45998824	50	47.96	47	A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702	p.A169	ENST00000593726.1	37	c.507	CCDS12567.1	19																																																																																			-	NULL		0.667	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	protein_coding	OTTHUMT00000463218.1	G			45998824	+1	no_errors	NM_053046.2	genbank	human	reviewed	54_36p	silent	SNP	0.001	A
ZNF548	147694	genome.wustl.edu	37	19	57911210	57911210	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr19:57911210A>G	ENST00000366197.5	+	3	1805	c.1555A>G	c.(1555-1557)Acc>Gcc	p.T519A	ZNF548_ENST00000336128.7_Missense_Mutation_p.T531A|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAAACTCCAACCTCATTAAA	0.353																																						dbGAP											0			19											43.0	42.0	42.0					19																	57911210		1921	4153	6074	62603022	SO:0001583	missense	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1555A>G	19.37:g.57911210A>G	ENSP00000379482:p.Thr519Ala	549	5.65	33		13	55.17	16	62603022	278	41.41	200	Q96M05	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.T519A	ENST00000366197.5	37	c.1555	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.289862	0.01387	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05081	3.5;3.52	2.28	-4.56	0.03431	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40346	-0.9568	9	0.32370	T	0.25	.	8.0406	0.30519	0.1592:0.0:0.7328:0.1081	.	531;519	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	A	531;519	ENSP00000337555:T531A;ENSP00000379482:T519A	ENSP00000337555:T531A	T	+	1	0	ZNF548	62603022	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.532000	0.00943	-2.252000	0.00699	-1.264000	0.01445	ACC	-	NULL		0.353	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	protein_coding	OTTHUMT00000465937.1	A	NM_152909		62603022	+1	no_errors	NM_152909.2	genbank	human	provisional	54_36p	missense	SNP	0.000	G
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs	NA	NA	NA		NA	NA	NA	170770152	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
FLT3	2322	genome.wustl.edu	37	13	28608240	28608241	+	In_Frame_Ins	INS	-	-	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	rs61729139	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	-	-	-	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr13:28608240_28608241insAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	ENST00000241453.7	-	14	1896_1897	c.1815_1816insTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTT	c.(1813-1818)tttcca>tttTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTcca	p.604_605insFSSDNEYFYVDFREYEYDLKWE	FLT3_ENST00000537084.1_In_Frame_Ins_p.604_605insFSSDNEYFYVDFREYEYDLKWE|FLT3_ENST00000380982.4_In_Frame_Ins_p.604_605insFSSDNEYFYVDFREYEYDLKWE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	604					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P606_R607ins21(1)|p.605_606>GSSDNEYFYVDFREYEYDLKWEF(1)|p.F605_P606insDLKWEF(1)|p.F605_P606ins13(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTCTCTTGGAAACTCCCATT	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506241	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1750_1815dupTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTT	13.37:g.28608240_28608241insAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	ENSP00000241453:p.Glu604_Phe605insPheSerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGluTyrAspLeuLysTrpGlu	NA	NA	NA		NA	NA	NA	27506240	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.605in_frame_insSSDNEYFYVDFREYEYDLKWEF	ENST00000241453.7	37	c.1816_1815	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506241	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA
