#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Invalid:failed_liftOver	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								1872	SO:0001628	intergenic_variant	0																															Unknown.37:g.0A>G		1354	1.24	17		NA	NA	NA	1872	2584	26.95	967		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210082			A			1872	+1	no_errors	ENST00000387347	ensembl	human	known	54_36p	rna	SNP	NULL	G
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Invalid:failed_liftOver	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								6721	SO:0001628	intergenic_variant	0																															Unknown.37:g.0A>G		2661	1.44	39		NA	NA	NA	6721	5528	26.54	2014		Missense_Mutation	SNP	HMMPfam_COX1,PatternScan_COX1_CUB,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^I-like	p.M273V		37	c.817		MT																																																																																			-	HMMPfam_COX1,PatternScan_COX1_CUB,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^I-like	0	0					MT-CO1			A			6721	+1	no_stop_codon	ENST00000361624	ensembl	human	known	54_36p	missense	SNP	NULL	G
ARID1A	8289	genome.wustl.edu	37	1	27101691	27101691	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr1:27101691G>A	ENST00000324856.7	+	18	5344	c.4973G>A	c.(4972-4974)cGg>cAg	p.R1658Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1441Q|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1275Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1658			R -> W (found in a gastric cancer sample; somatic mutation). {ECO:0000269|PubMed:22009941}.		androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGAGGAGGCGGCTCACAATG	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1											37.0	39.0	39.0					1																	27101691		2202	4291	6493	26974278	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4973G>A	1.37:g.27101691G>A	ENSP00000320485:p.Arg1658Gln	204	2.86	6		64	49.21	62	26974278	150	39.36	98	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like	p.R1658Q	ENST00000324856.7	37	c.4973	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460022	0.84317	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.04317	3.8;3.73;3.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.991;0.99;0.978	T	0.00334	-1.1809	10	0.72032	D	0.01	-14.1321	18.5061	0.90898	0.0:0.0:1.0:0.0	.	1275;1658;1441;1311	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	Q	1658;1441;1275	ENSP00000320485:R1658Q;ENSP00000387636:R1441Q;ENSP00000363267:R1275Q	ENSP00000320485:R1658Q	R	+	2	0	ARID1A	26974278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.356000	0.79445	2.619000	0.88677	0.655000	0.94253	CGG	-	NULL		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	G	NM_139135		26974278	+1	no_errors	NM_006015.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SLAMF7	57823	genome.wustl.edu	37	1	160718302	160718302	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr1:160718302A>G	ENST00000368043.3	+	2	411	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	SLAMF7_ENST00000359331.4_Missense_Mutation_p.Y125C|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000441662.2_Missense_Mutation_p.Y125C|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000444090.2_Missense_Mutation_p.Y125C	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	125					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCATGTCTACGGTGAGCAA	0.498																																						dbGAP											0			1											69.0	61.0	64.0					1																	160718302		2203	4300	6503	158984926	SO:0001583	missense	0			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.374A>G	1.37:g.160718302A>G	ENSP00000357022:p.Tyr125Cys	347	2.53	9		31	0.00	0	158984926	295	34.29	155	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin	p.Y125C	ENST00000368043.3	37	c.374	CCDS1209.1	1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689017	0.48097	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	T;T;T;T	0.58797	1.91;1.91;0.31;0.31	4.72	4.72	0.59763	Immunoglobulin subtype (1);	0.202523	0.42420	D	0.000707	T	0.72415	0.3457	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.993;0.999	D;D;P;P	0.79108	0.992;0.992;0.789;0.868	T	0.77882	-0.2422	9	.	.	.	-11.9512	10.7795	0.46369	1.0:0.0:0.0:0.0	.	125;125;125;125	B4DPY3;B4DPU4;A8K3U1;Q9NQ25	.;.;.;SLAF7_HUMAN	C	125	ENSP00000416592:Y125C;ENSP00000405605:Y125C;ENSP00000357022:Y125C;ENSP00000352281:Y125C	.	Y	+	2	0	SLAMF7	158984926	0.993000	0.37304	0.990000	0.47175	0.117000	0.20001	4.204000	0.58460	2.096000	0.63516	0.528000	0.53228	TAC	-	HMMPfam_V-set,superfamily_Immunoglobulin		0.498	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	protein_coding	OTTHUMT00000060464.1	A	NM_021181		158984926	+1	no_errors	NM_021181.3	genbank	human	provisional	54_36p	missense	SNP	0.922	G
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55.0	50.0	52.0		2644,2077,2644	5.7	1.0	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	99	3.88	4		37	51.32	39	25310747	91	41.67	65	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TET2	54790	genome.wustl.edu	37	4	106164778	106164778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr4:106164778C>T	ENST00000540549.1	+	6	4506	c.3646C>T	c.(3646-3648)Cga>Tga	p.R1216*	TET2_ENST00000513237.1_Nonsense_Mutation_p.R1237*|TET2_ENST00000545826.1_Silent_p.S1185S|TET2_ENST00000380013.4_Nonsense_Mutation_p.R1216*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1216					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGTGCGGGAGCGAGCTGGCCA	0.557			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											179.0	172.0	174.0					4																	106164778		692	1591	2283	106384227	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3646C>T	4.37:g.106164778C>T	ENSP00000442788:p.Arg1216*	67	4.29	3		8	50.00	8	106384227	119	36.98	71	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R18*	ENST00000540549.1	37	c.52	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.282312	0.99732	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.5	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7953	0.69873	0.2633:0.7367:0.0:0.0	.	.	.	.	X	1216;1237;1216	.	ENSP00000369351:R1216X	R	+	1	2	TET2	106384227	1.000000	0.71417	0.947000	0.38551	0.302000	0.27658	3.037000	0.49775	0.668000	0.31126	-0.953000	0.02652	CGA	-	NULL		0.557	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106384227	+1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	nonsense	SNP	1.000	T
PCDHA8	56140	genome.wustl.edu	37	5	140222758	140222758	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr5:140222758C>A	ENST00000531613.1	+	1	1852	c.1852C>A	c.(1852-1854)Cct>Act	p.P618T	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618T|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAGCAGCCCTCGCATCCC	0.672																																						dbGAP											0			5											95.0	93.0	94.0					5																	140222758		2197	4272	6469	140202942	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1852C>A	5.37:g.140222758C>A	ENSP00000434655:p.Pro618Thr	36	0.00	0		NA	NA	NA	140202942	7	80.56	29	B9EGT7|O75281	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.P618T	ENST00000531613.1	37	c.1852	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.782029	0.00634	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20881	2.04;2.04	2.93	1.0	0.19881	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11153	0.0272	N	0.13198	0.31	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27468	-1.0073	9	0.52906	T	0.07	.	5.3381	0.15969	0.1781:0.368:0.4539:0.0	.	618;618	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	618	ENSP00000434655:P618T;ENSP00000367363:P618T	ENSP00000367363:P618T	P	+	1	0	PCDHA8	140202942	0.004000	0.15560	0.000000	0.03702	0.018000	0.09664	0.000000	0.12993	0.080000	0.16959	-0.702000	0.03669	CCT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	C	NM_018911		140202942	+1	no_errors	NM_018911.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
STK32A	202374	genome.wustl.edu	37	5	146752756	146752756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr5:146752756C>T	ENST00000397936.3	+	10	1135	c.802C>T	c.(802-804)Cga>Tga	p.R268*	STK32A_ENST00000398523.3_Nonsense_Mutation_p.R268*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R268R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGACCAACGATTTTCTCA	0.373																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)	5											195.0	186.0	189.0					5																	146752756		1568	3582	5150	146732949	SO:0001587	stop_gained	0				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.802C>T	5.37:g.146752756C>T	ENSP00000381030:p.Arg268*	220	0.45	1		NA	NA	NA	146732949	69	60.67	108	B3KSY0	Nonsense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R268*	ENST00000397936.3	37	c.802	CCDS47299.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.783377	0.96937	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	.	.	.	5.52	3.53	0.40419	.	0.000000	0.38837	N	0.001549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1076	0.72332	0.2674:0.7326:0.0:0.0	.	.	.	.	X	268	.	ENSP00000381030:R268X	R	+	1	2	STK32A	146732949	0.989000	0.36119	0.943000	0.38184	0.989000	0.77384	2.612000	0.46343	1.317000	0.45149	0.591000	0.81541	CGA	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.373	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	protein_coding	OTTHUMT00000373306.1	C	NM_145001		146732949	+1	no_errors	ENST00000306304	ensembl	human	known	54_36p	nonsense	SNP	0.997	T
GRM3	2913	genome.wustl.edu	37	7	86468368	86468368	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr7:86468368G>C	ENST00000361669.2	+	4	2637	c.1538G>C	c.(1537-1539)tGt>tCt	p.C513S	GRM3_ENST00000546348.1_Missense_Mutation_p.C105S|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.C385S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	513					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGCGACCCCTGTGCCCCCAAT	0.512																																					GBM(52;969 1098 3139 52280)	dbGAP											0			7											90.0	83.0	85.0					7																	86468368		2203	4300	6503	86306304	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1538G>C	7.37:g.86468368G>C	ENSP00000355316:p.Cys513Ser	155	3.12	5		NA	NA	NA	86306304	106	39.78	72	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.C513S	ENST00000361669.2	37	c.1538	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317966	0.81469	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.99494	-6.01;-5.88;-6.01	6.17	6.17	0.99709	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97216	0.9874	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	105;385;513	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	513;105;385	ENSP00000355316:C513S;ENSP00000444064:C105S;ENSP00000441407:C385S	ENSP00000355316:C513S	C	+	2	0	GRM3	86306304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT	-	HMMPfam_NCD3G,superfamily_Periplasmic binding protein-like I		0.512	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G			86306304	+1	no_errors	NM_000840.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ESCO2	157570	genome.wustl.edu	37	8	27634598	27634598	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr8:27634598G>A	ENST00000305188.8	+	3	1011	c.773G>A	c.(772-774)aGg>aAg	p.R258K	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	258					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTTGCGACAAGGCAAGTGCCA	0.373									SC Phocomelia syndrome																													dbGAP											0			8											54.0	58.0	57.0					8																	27634598		2203	4299	6502	27690517	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.773G>A	8.37:g.27634598G>A	ENSP00000306999:p.Arg258Lys	70	2.78	2		4	50.00	4	27690517	108	36.78	64	B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.R258K	ENST00000305188.8	37	c.773	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.284674	0.01398	.	.	ENSG00000171320	ENST00000305188	T	0.61742	0.08	5.83	0.216	0.15258	.	1.066690	0.07062	N	0.833827	T	0.43722	0.1260	L	0.39898	1.24	0.19300	N	0.999978	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.26430	-1.0103	10	0.08599	T	0.76	0.0512	8.4723	0.32993	0.4649:0.0:0.5351:0.0	.	258;258	E5RFE4;Q56NI9	.;ESCO2_HUMAN	K	258	ENSP00000306999:R258K	ENSP00000306999:R258K	R	+	2	0	ESCO2	27690517	0.021000	0.18746	0.000000	0.03702	0.024000	0.10985	0.985000	0.29578	-0.267000	0.09325	-0.229000	0.12294	AGG	-	NULL		0.373	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	protein_coding	OTTHUMT00000376276.1	G	NM_001017420		27690517	+1	no_errors	NM_001017420.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
MROH5	389690	genome.wustl.edu	37	8	142481264	142481264	+	RNA	SNP	G	G	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr8:142481264G>T	ENST00000430863.1	-	0	1977					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCCACCAATTGCCCAATCCTT	0.572																																						dbGAP											0			8											106.0	108.0	107.0					8																	142481264		1998	4181	6179	142550446			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142481264G>T		325	0.31	1		NA	NA	NA	142550446	224	32.54	110		Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.Q633K	ENST00000430863.1	37	c.1897		8																																																																																			-	superfamily_ARM repeat		0.572	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	polymorphic_pseudogene	OTTHUMT00000342412.4	G	NM_207414		142550446	-1	pseudogene	NM_207414.2	genbank	human	validated	54_36p	missense	SNP	0.639	T
SMC3	9126	genome.wustl.edu	37	10	112361832	112361832	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr10:112361832A>G	ENST00000361804.4	+	25	3127	c.3001A>G	c.(3001-3003)Ata>Gta	p.I1001V		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1001					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGAAAAGTTAATAAAGCGTCA	0.343																																						dbGAP											0			10											70.0	74.0	73.0					10																	112361832		2202	4300	6502	112351822	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3001A>G	10.37:g.112361832A>G	ENSP00000354720:p.Ile1001Val	46	2.13	1		25	52.83	28	112351822	46	52.04	51	A8K156|O60464|Q5T482	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.I1001V	ENST00000361804.4	37	c.3001	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	A	9.430	1.085371	0.20390	.	.	ENSG00000108055	ENST00000361804	T	0.74947	-0.89	4.99	4.99	0.66335	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	N	0.02697	-0.525	0.80722	D	1	B	0.15930	0.015	B	0.18871	0.023	T	0.49643	-0.8918	10	0.25751	T	0.34	.	14.976	0.71273	1.0:0.0:0.0:0.0	.	1001	Q9UQE7	SMC3_HUMAN	V	1001	ENSP00000354720:I1001V	ENSP00000354720:I1001V	I	+	1	0	SMC3	112351822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.910000	0.92685	2.013000	0.59113	0.477000	0.44152	ATA	-	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	A	NM_005445		112351822	+1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TMPRSS13	84000	genome.wustl.edu	37	11	117785122	117785122	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr11:117785122C>T	ENST00000430170.2	-	4	751	c.664G>A	c.(664-666)Gac>Aac	p.D222N	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.D222N|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.D187N|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.D222N|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.D222N	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	222	LDL-receptor class A.|SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCAGCTCGTCACTCTTCAGC	0.592																																						dbGAP											0			11											185.0	209.0	201.0					11																	117785122		2199	4284	6483	117290332	SO:0001583	missense	0			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.664G>A	11.37:g.117785122C>T	ENSP00000387702:p.Asp222Asn	190	6.86	14		5	0.00	0	117290332	105	43.55	81	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.D222N	ENST00000430170.2	37	c.664	CCDS58185.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.104680	0.94245	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000005	D	0.98795	0.9594	M	0.90870	3.155	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99589	1.0975	10	0.87932	D	0	.	17.9506	0.89052	0.0:1.0:0.0:0.0	.	217;222	Q9BYE2-4;E9PRA0	.;.	N	187;217;222;222;222;222	ENSP00000435813:D187N;ENSP00000434279:D222N;ENSP00000387702:D222N;ENSP00000394114:D222N;ENSP00000436502:D222N	ENSP00000337113:D217N	D	-	1	0	TMPRSS13	117290332	1.000000	0.71417	0.453000	0.27007	0.985000	0.73830	5.029000	0.64121	2.771000	0.95319	0.561000	0.74099	GAC	-	NULL		0.592	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	TMPRSS13	protein_coding	OTTHUMT00000392318.1	C	NM_032046		117290332	-1	no_errors	NM_001077263.1	genbank	human	validated	54_36p	missense	SNP	0.962	T
RPS12P23	338870	genome.wustl.edu	37	13	21668654	21668654	+	IGR	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr13:21668654G>A								LATS2 (32968 upstream) : SNORD27 (45370 downstream)																							AGCACAAATGGCTTCCACCAA	0.453																																						dbGAP											0			13																																								20566654	SO:0001628	intergenic_variant	0																															13.37:g.21668654G>A		199	2.45	5		1	92.31	12	20566654	100	39.88	67		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.453					LOC338870			G			20566654	-1	pseudogene	XR_016327.2	genbank	human	model	54_36p	rna	SNP	1.000	A
POLE2	5427	genome.wustl.edu	37	14	50118023	50118023	+	Silent	SNP	G	G	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr14:50118023G>T	ENST00000216367.5	-	16	1383	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V	POLE2_ENST00000539565.2_Silent_p.V402V|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.V428V	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	428					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TAGGAAAACGGACGCAGTTTC	0.323																																						dbGAP											0			14											80.0	80.0	80.0					14																	50118023		2203	4300	6503	49187773	SO:0001819	synonymous_variant	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1284C>A	14.37:g.50118023G>T		104	0.00	0		34	46.88	30	49187773	99	33.11	49	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	HMMPfam_DNA_pol_E_B	p.V428	ENST00000216367.5	37	c.1284	CCDS32073.1	14																																																																																			-	HMMPfam_DNA_pol_E_B		0.323	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	protein_coding	OTTHUMT00000410512.1	G	NM_002692		49187773	-1	no_errors	NM_002692.2	genbank	human	provisional	54_36p	silent	SNP	1.000	T
TJP1	7082	genome.wustl.edu	37	15	30000833	30000833	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr15:30000833A>G	ENST00000346128.6	-	25	5254	c.4780T>C	c.(4780-4782)Tct>Cct	p.S1594P	TJP1_ENST00000545208.2_Missense_Mutation_p.S1514P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1594P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1518P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1594					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCATGGATAGAGAAAGTTTCA	0.408																																					Melanoma(77;681 1843 6309 6570)	dbGAP											0			15											140.0	129.0	133.0					15																	30000833		1848	4100	5948	27788125	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4780T>C	15.37:g.30000833A>G	ENSP00000281537:p.Ser1594Pro	150	2.60	4		NA	NA	NA	27788125	127	36.18	72	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	HMMPfam_ZU5,HMMSmart_SM00218,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,HMMPfam_SH3_2,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.S1594P	ENST00000346128.6	37	c.4780	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566115	0.65651	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.06687	3.27;3.33	6.17	6.17	0.99709	.	0.110132	0.64402	D	0.000005	T	0.12732	0.0309	L	0.56769	1.78	0.80722	D	1	P;P;P;P	0.52316	0.952;0.925;0.859;0.925	P;P;B;P	0.45712	0.475;0.491;0.372;0.491	T	0.00715	-1.1597	10	0.87932	D	0	.	9.5334	0.39207	0.7576:0.1239:0.0:0.1185	.	1587;1514;1594;1518	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1594;1518;1594;1514;1514	ENSP00000281537:S1594P;ENSP00000382890:S1518P	ENSP00000281537:S1594P	S	-	1	0	TJP1	27788125	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	3.587000	0.53957	2.371000	0.80710	0.533000	0.62120	TCT	-	NULL		0.408	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	protein_coding	OTTHUMT00000268237.3	A	NM_003257		27788125	-1	no_errors	NM_003257.3	genbank	human	validated	54_36p	missense	SNP	1.000	G
CNTNAP4	85445	genome.wustl.edu	37	16	76523672	76523672	+	Missense_Mutation	SNP	G	G	A	rs372054509		TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr16:76523672G>A	ENST00000476707.1	+	12	2120	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E657K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E585K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E609K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	658	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGGTTTTTCGAGTATGTGGC	0.458																																						dbGAP											0			16						G	LYS/GLU,LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	49.0	40.0	43.0		1753,1971	-2.2	0.4	16		43	0,8600		0,0,4300	no	missense,missense	CNTNAP4	NM_138994.3,NM_033401.3	56,56	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	585/1236,658/1309	76523672	1,12995	2198	4300	6498	75081173	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1981G>A	16.37:g.76523672G>A	ENSP00000417628:p.Glu661Lys	148	1.33	2		NA	NA	NA	75081173	135	38.12	85	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00282,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.E585K	ENST00000476707.1	37	c.1753		16	.	.	.	.	.	.	.	.	.	.	G	9.890	1.204022	0.22205	2.27E-4	0.0	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.55	-2.21	0.06973	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.16514	0.0397	.	.	.	0.28872	N	0.894875	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.35375	-0.9791	8	0.07482	T	0.82	.	5.0938	0.14723	0.4891:0.3038:0.2071:0.0	.	585;661;633;658	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	K	657;609;585;661	ENSP00000306893:E657K;ENSP00000439733:E609K;ENSP00000418741:E585K;ENSP00000417628:E661K	ENSP00000306893:E657K	E	+	1	0	CNTNAP4	75081173	0.129000	0.22400	0.400000	0.26346	0.985000	0.73830	0.598000	0.24074	-0.223000	0.09943	-0.252000	0.11476	GAG	-	superfamily_Concanavalin A-like lectins/glucanases		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	G	NM_033401		75081173	+1	no_errors	NM_138994.3	genbank	human	validated	54_36p	missense	SNP	0.993	A
TP53	7157	genome.wustl.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)	Acetylsalicylic acid(DB00945)	TTCTTTGGCTGGGGAGAGGAG	0.473		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)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(1)	17											129.0	119.0	122.0					17																	7576897		2203	4300	6503	7517622	SO:0001587	stop_gained	0	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			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*	409	0.24	1		43	12.24	6	7517622	198	39.94	133	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	Nonsense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.Q317*	ENST00000269305.4	37	c.949	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG	-	NULL		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7517622	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	nonsense	SNP	0.550	A
TP53	7157	genome.wustl.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr17:7578507G>C	ENST00000269305.4	-	5	612	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000420246.2_Missense_Mutation_p.C141W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)	Acetylsalicylic acid(DB00945)	GCTGCACAGGGCAGGTCTTGG	0.577		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)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	55	Substitution - Missense(16)|Substitution - Nonsense(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Insertion - In frame(1)	ovary(13)|lung(9)|breast(6)|oesophagus(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)	17											57.0	56.0	56.0					17																	7578507		2203	4300	6503	7519232	SO:0001583	missense	0	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			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.423C>G	17.37:g.7578507G>C	ENSP00000269305:p.Cys141Trp	185	1.07	2		17	71.67	43	7519232	152	24.02	49	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	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.C141W	ENST00000269305.4	37	c.423	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936103	0.34189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.48	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99775	0.9907	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D	0.98853	1.0759	10	0.87932	D	0	-26.1094	8.3736	0.32430	0.2952:0.0:0.7048:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141W;ENSP00000352610:C141W;ENSP00000269305:C141W;ENSP00000398846:C141W;ENSP00000391127:C141W;ENSP00000391478:C141W;ENSP00000425104:C9W;ENSP00000423862:C48W;ENSP00000424104:C141W	ENSP00000269305:C141W	C	-	3	2	TP53	7519232	1.000000	0.71417	0.987000	0.45799	0.022000	0.10575	1.115000	0.31209	0.236000	0.21180	0.655000	0.94253	TGC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519232	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
IKZF3	22806	genome.wustl.edu	37	17	37922154	37922154	+	Silent	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr17:37922154G>A	ENST00000346872.3	-	8	1480	c.1419C>T	c.(1417-1419)tgC>tgT	p.C473C	IKZF3_ENST00000377945.3_Silent_p.C339C|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377944.3_Silent_p.C330C|IKZF3_ENST00000467757.1_Silent_p.C417C|IKZF3_ENST00000583368.1_Silent_p.C226C|IKZF3_ENST00000351680.3_Silent_p.C434C|IKZF3_ENST00000350532.3_Silent_p.C434C|IKZF3_ENST00000377958.2_Silent_p.C386C|IKZF3_ENST00000439167.2_Silent_p.C400C|IKZF3_ENST00000346243.3_Silent_p.C395C|IKZF3_ENST00000535189.1_Silent_p.C439C|IKZF3_ENST00000377952.2_Silent_p.C252C|IKZF3_ENST00000439016.2_Silent_p.C378C|IKZF3_ENST00000394189.2_Silent_p.C291C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	473					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAGCCGTGGCAGCCCATGT	0.522																																						dbGAP											0			17											154.0	136.0	142.0					17																	37922154		2203	4300	6503	35175680	SO:0001819	synonymous_variant	0			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1419C>T	17.37:g.37922154G>A		210	0.94	2		14	0.00	0	35175680	102	29.17	42	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.C473	ENST00000346872.3	37	c.1419	CCDS11346.1	17	.	.	.	.	.	.	.	.	.	.	G	8.893	0.954429	0.18431	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.61	3.29	0.37713	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63028	-0.6728	4	.	.	.	-13.6274	13.0455	0.58924	0.1529:0.0:0.8471:0.0	.	.	.	.	V	388;427	.	.	A	-	2	0	IKZF3	35175680	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.470000	0.53100	1.384000	0.46424	0.591000	0.81541	GCC	-	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.522	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	protein_coding	OTTHUMT00000257004.2	G	NM_012481		35175680	-1	no_errors	NM_012481.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CYP2F1	1572	genome.wustl.edu	37	19	41630694	41630694	+	Silent	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr19:41630694C>T	ENST00000331105.2	+	8	1107	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	345					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACCGCGCGGCCATGCCTTACA	0.677																																						dbGAP											0			19											27.0	25.0	25.0					19																	41630694		2202	4300	6502	46322534	SO:0001819	synonymous_variant	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1035C>T	19.37:g.41630694C>T		126	1.56	2		NA	NA	NA	46322534	60	28.24	24	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.A345	ENST00000331105.2	37	c.1035	CCDS12572.1	19																																																																																			-	HMMPfam_p450,superfamily_Cytochrome P450		0.677	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	protein_coding	OTTHUMT00000394527.2	C			46322534	+1	no_errors	NM_000774.3	genbank	human	reviewed	54_36p	silent	SNP	0.086	T
C1orf105	92346	genome.wustl.edu	37	1	172425583	172425583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	T	T	T	-	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr1:172425583delT	ENST00000367727.4	+	4	425	c.227delT	c.(226-228)ctgfs	p.L77fs	C1orf105_ENST00000367725.4_Frame_Shift_Del_p.L67fs|C1orf105_ENST00000367726.1_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	77										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GACTCCATGCTGCTCAGAAAC	0.532																																						dbGAP											0			1											131.0	125.0	127.0					1																	172425583		2203	4300	6503	170692206	SO:0001589	frameshift_variant	0			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.227delT	1.37:g.172425583delT	ENSP00000356700:p.Leu77fs	164	1.20	2		0	0.00	0	170692206	125	34.20	66	Q8IY02	Frame_Shift_Del	DEL	NULL	p.L76fs	ENST00000367727.4	37	c.227	CCDS1301.1	1																																																																																			-	NULL		0.532	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	protein_coding	OTTHUMT00000084062.2	T	NM_139240		170692206	+1	no_errors	NM_139240.2	genbank	human	predicted	54_36p	frame_shift_del	DEL	0.060	-
KDM3B	51780	genome.wustl.edu	37	5	137727800	137727800	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr5:137727800delC	ENST00000314358.5	+	8	2679	c.2479delC	c.(2479-2481)cagfs	p.Q827fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.Q483fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	827					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCTGAGGAGCAGCTGCAGGC	0.552																																						dbGAP											0			5											66.0	72.0	70.0					5																	137727800		2203	4300	6503	137755699	SO:0001589	frameshift_variant	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2479delC	5.37:g.137727800delC	ENSP00000326563:p.Gln827fs	106	0.93	1		6	72.41	21	137755699	42	48.39	45	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like	p.Q827fs	ENST00000314358.5	37	c.2479	CCDS34242.1	5																																																																																			-	NULL		0.552	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD1B	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137755699	+1	no_errors	NM_016604.3	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-
