#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
DLGAP3	58512	genome.wustl.edu	37	1	35370196	35370196	+	Silent	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr1:35370196G>A	ENST00000373347.1	-	3	1057	c.789C>T	c.(787-789)tcC>tcT	p.S263S	DLGAP3_ENST00000235180.4_Silent_p.S263S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	263					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.S263S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGTTGTCATCGGAACTCCACC	0.652																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											114.0	105.0	108.0					1																	35370196		2203	4300	6503	35142783	SO:0001819	synonymous_variant	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.789C>T	1.37:g.35370196G>A		1820	0.05	1		NA	NA	NA	35142783	1242	41.58	884	Q5TDD5|Q9H3X7	Silent	SNP	HMMPfam_GKAP	p.S263	ENST00000373347.1	37	c.789	CCDS30670.1	1																																																																																			-	NULL		0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35142783	-1	no_errors	NM_001080418.1	genbank	human	provisional	54_36p	silent	SNP	0.929	A
NES	10763	genome.wustl.edu	37	1	156642555	156642555	+	Silent	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr1:156642555G>A	ENST00000368223.3	-	4	1557	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	475	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.S475S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCTAAACTGGAGTGGTCAG	0.592																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											84.0	86.0	86.0					1																	156642555		2203	4300	6503	154909179	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1425C>T	1.37:g.156642555G>A		178	1.11	2		NA	NA	NA	154909179	170	46.03	145	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.S475	ENST00000368223.3	37	c.1425	CCDS1151.1	1																																																																																			-	NULL		0.592	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	protein_coding	OTTHUMT00000082844.2	G	NM_006617		154909179	-1	no_errors	NM_006617.1	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
IL17RD	54756	genome.wustl.edu	37	3	57131719	57131719	+	Nonsense_Mutation	SNP	G	G	C	rs200787099	byFrequency	TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:57131719G>C	ENST00000296318.7	-	12	2100	c.2012C>G	c.(2011-2013)tCa>tGa	p.S671*	IL17RD_ENST00000320057.5_Nonsense_Mutation_p.S527*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.S527*|IL17RD_ENST00000427856.2_Nonsense_Mutation_p.S647*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	671					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S527*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAGCTCGGATGAGGGCACAGA	0.627																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	3											41.0	36.0	38.0					3																	57131719		2203	4300	6503	57106759	SO:0001587	stop_gained	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.2012C>G	3.37:g.57131719G>C	ENSP00000296318:p.Ser671*	452	0.00	0		NA	NA	NA	57106759	354	40.60	242	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Nonsense_Mutation	SNP	HMMPfam_SEFIR	p.S639*	ENST00000296318.7	37	c.1916	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	39	7.716873	0.98450	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.7697	20.04	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	X	671;527;647;527	.	ENSP00000296318:S671X	S	-	2	0	IL17RD	57106759	1.000000	0.71417	0.986000	0.45419	0.693000	0.40251	9.225000	0.95219	2.733000	0.93635	0.655000	0.94253	TCA	-	NULL		0.627	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	protein_coding	OTTHUMT00000316680.1	G	NM_017563		57106759	-1	no_errors	NM_017563.3	genbank	human	validated	54_36p	nonsense	SNP	0.998	C
PTPRG	5793	genome.wustl.edu	37	3	61734593	61734593	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:61734593C>G	ENST00000474889.1	+	2	504	c.127C>G	c.(127-129)Cac>Gac	p.H43D	PTPRG_ENST00000295874.10_Missense_Mutation_p.H43D|PTPRG_ENST00000495879.1_3'UTR	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	43					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H43D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CGAGAATAGACACGGCAGCGC	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											114.0	106.0	109.0					3																	61734593		2203	4300	6503	61709633	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.127C>G	3.37:g.61734593C>G	ENSP00000418112:p.His43Asp	941	0.00	0		NA	NA	NA	61709633	464	43.03	352	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.H43D	ENST00000474889.1	37	c.127	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800507	0.50315	.	.	ENSG00000144724	ENST00000536499;ENST00000474889;ENST00000295874	T;T	0.50548	0.74;0.74	5.95	5.95	0.96441	.	0.506403	0.20792	N	0.085584	T	0.46249	0.1383	L	0.40543	1.245	0.40130	D	0.976706	B;B	0.16802	0.019;0.006	B;B	0.18561	0.022;0.005	T	0.36237	-0.9756	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	43;43	P23470-2;P23470	.;PTPRG_HUMAN	D	43	ENSP00000418112:H43D;ENSP00000295874:H43D	ENSP00000295874:H43D	H	+	1	0	PTPRG	61709633	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	5.515000	0.67049	2.824000	0.97209	0.655000	0.94253	CAC	-	NULL		0.567	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841		61709633	+1	no_errors	NM_002841.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134873071	134873071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:134873071C>T	ENST00000398015.3	+	6	1745	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	EPHB1_ENST00000493838.1_Nonsense_Mutation_p.Q20*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	459	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Q459*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACAGCCGGAGCAGCCCAATGG	0.557																																						dbGAP											2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	3											134.0	143.0	140.0					3																	134873071		2193	4298	6491	136355761	SO:0001587	stop_gained	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1375C>T	3.37:g.134873071C>T	ENSP00000381097:p.Gln459*	1302	0.00	0		NA	NA	NA	136355761	698	46.08	600	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Nonsense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP	p.Q459*	ENST00000398015.3	37	c.1375	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	44	10.942351	0.99492	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	.	.	.	5.0	5.0	0.66597	.	0.062205	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.0819	0.89443	0.0:1.0:0.0:0.0	.	.	.	.	X	459;20	.	ENSP00000381097:Q459X	Q	+	1	0	EPHB1	136355761	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.589000	0.61006	2.610000	0.88304	0.655000	0.94253	CAG	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	protein_coding	OTTHUMT00000357671.1	C	NM_004441		136355761	+1	no_errors	NM_004441.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
MASP1	5648	genome.wustl.edu	37	3	186937934	186937934	+	Silent	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:186937934C>T	ENST00000337774.5	-	16	2414	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	675	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.K675K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGTAGCGGTCCTTCTTCCCAC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											147.0	129.0	135.0					3																	186937934		2203	4300	6503	188420628	SO:0001819	synonymous_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.2025G>A	3.37:g.186937934C>T		1566	0.00	0	2011	NA	NA	NA	188420628	993	43.68	770	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,HMMSmart_SM00179,superfamily_Trypsin-like serine proteases,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_EGF/Laminin	p.K675	ENST00000337774.5	37	c.2025	CCDS33907.1	3																																																																																			-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	C	NM_001879		188420628	-1	no_errors	NM_001879.1	genbank	human	reviewed	54_36p	silent	SNP	0.930	T
Unknown	0	genome.wustl.edu	37	5	2592059	2592059	+	IGR	SNP	G	G	C			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr5:2592059G>C								Y_RNA (407125 upstream) : RP11-129I19.2 (144716 downstream)																							TGCAGACGCTGTCTGACTCTG	0.622																																						dbGAP											0			5																																								2645059	SO:0001628	intergenic_variant	0																															5.37:g.2592059G>C		1188	0.00	0		NA	NA	NA	2645059	517	41.93	374		Missense_Mutation	SNP	NULL	p.T76R		37	c.227		5																																																																																			-	NULL	0	0.622					LOC100133292			G			2645059	-1	no_errors	XM_001715713.1	genbank	human	model	54_36p	missense	SNP	0.065	C
COL9A1	1297	genome.wustl.edu	37	6	70984444	70984444	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr6:70984444G>A	ENST00000357250.6	-	11	1165	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.S93F|COL9A1_ENST00000370499.4_Missense_Mutation_p.S93F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	336	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.S336F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGACCCAATGGAGCCAGGGGA	0.388																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											102.0	98.0	99.0					6																	70984444		2203	4300	6503	71041165	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1007C>T	6.37:g.70984444G>A	ENSP00000349790:p.Ser336Phe	1091	0.00	0		NA	NA	NA	71041165	622	34.04	321	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl	p.S336F	ENST00000357250.6	37	c.1007	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376875	0.42105	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	T;D;D	0.93659	1.8;-3.26;-3.23	5.85	5.85	0.93711	.	0.221478	0.47852	D	0.000210	D	0.91811	0.7409	N	0.16790	0.44	0.41594	D	0.988812	D;P	0.67145	0.996;0.891	P;B	0.62014	0.897;0.444	D	0.92525	0.6028	10	0.48119	T	0.1	.	18.7369	0.91757	0.0:0.0:1.0:0.0	.	336;93	P20849;P20849-2	CO9A1_HUMAN;.	F	336;93;93	ENSP00000349790:S336F;ENSP00000315252:S93F;ENSP00000359530:S93F	ENSP00000315252:S93F	S	-	2	0	COL9A1	71041165	0.999000	0.42202	0.993000	0.49108	0.793000	0.44817	4.099000	0.57755	2.768000	0.95171	0.655000	0.94253	TCC	-	HMMPfam_Collagen		0.388	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	protein_coding	OTTHUMT00000041131.2	G			71041165	-1	no_errors	NM_001851.4	genbank	human	reviewed	54_36p	missense	SNP	0.948	A
IKZF1	10320	genome.wustl.edu	37	7	50444459	50444459	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr7:50444459A>G	ENST00000331340.3	+	4	544	c.389A>G	c.(388-390)aAt>aGt	p.N130S	IKZF1_ENST00000349824.4_Missense_Mutation_p.N130S|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.N130S|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.N130S|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.N130S|IKZF1_ENST00000357364.4_Missense_Mutation_p.N130S	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	130					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)|p.N130S(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATCGGGCCCAATGTGCTCATG	0.507			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	dbGAP		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	132	Unknown(131)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(132)	7											59.0	59.0	59.0					7																	50444459		1953	4161	6114	50411953	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.389A>G	7.37:g.50444459A>G	ENSP00000331614:p.Asn130Ser	533	0.00	0		NA	NA	NA	50411953	346	40.38	235	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.N130S	ENST00000331340.3	37	c.389		7	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734456	0.69189	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.04758	3.72;3.58;4.02;3.82;3.56;3.72	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	.	.	.	0.58432	D	0.999996	D;P	0.76494	0.999;0.833	D;P	0.85130	0.997;0.554	T	0.21552	-1.0242	9	0.13108	T	0.6	-10.4364	14.274	0.66167	1.0:0.0:0.0:0.0	.	130;130	Q13422-7;Q13422	.;IKZF1_HUMAN	S	130	ENSP00000352123:N130S;ENSP00000401507:N130S;ENSP00000342485:N130S;ENSP00000349928:N130S;ENSP00000331614:N130S;ENSP00000413025:N130S	ENSP00000331614:N130S	N	+	2	0	IKZF1	50411953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.277000	0.95755	1.842000	0.53543	0.379000	0.24179	AAT	-	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.507	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	protein_coding	OTTHUMT00000342242.1	A	NM_006060		50411953	+1	no_errors	ENST00000331340	ensembl	human	known	54_36p	missense	SNP	1.000	G
LONRF1	91694	genome.wustl.edu	37	8	12583332	12583332	+	Silent	SNP	A	A	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr8:12583332A>G	ENST00000398246.3	-	11	2136	c.2067T>C	c.(2065-2067)tcT>tcC	p.S689S	LONRF1_ENST00000525024.1_Silent_p.S115S|MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000533751.1_Silent_p.S332S	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	689	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S689S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TGCAGGCTTGAGAGTAAACCA	0.413																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	8											84.0	82.0	82.0					8																	12583332		1832	4086	5918	12627703	SO:0001819	synonymous_variant	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2067T>C	8.37:g.12583332A>G		988	0.20	2		NA	NA	NA	12627703	640	42.25	469	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	HMMSmart_SM00184,HMMPfam_LON,HMMSmart_SM00464,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RING/U-box	p.S689	ENST00000398246.3	37	c.2067	CCDS5987.2	8																																																																																			-	HMMPfam_LON,HMMSmart_SM00464		0.413	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	protein_coding	OTTHUMT00000251693.2	A	NM_152271		12627703	-1	no_errors	NM_152271.3	genbank	human	provisional	54_36p	silent	SNP	0.951	G
CUBN	8029	genome.wustl.edu	37	10	16870963	16870963	+	Silent	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr10:16870963C>T	ENST00000377833.4	-	66	10670	c.10605G>A	c.(10603-10605)acG>acA	p.T3535T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3535	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T3535T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTCGCAGTACGTGTTGTTTG	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											156.0	112.0	127.0					10																	16870963		2203	4300	6503	16910969	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10605G>A	10.37:g.16870963C>T		1390	0.36	5		NA	NA	NA	16910969	747	44.35	596	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.T3535	ENST00000377833.4	37	c.10605	CCDS7113.1	10																																																																																			-	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16910969	-1	no_errors	NM_001081.3	genbank	human	reviewed	54_36p	silent	SNP	0.938	T
AURKB	9212	genome.wustl.edu	37	17	8110166	8110166	+	Missense_Mutation	SNP	G	G	A	rs148133660	byFrequency	TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr17:8110166G>A	ENST00000585124.1	-	6	532	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	AURKB_ENST00000534871.1_Missense_Mutation_p.R106W|AURKB_ENST00000535053.1_Intron|AURKB_ENST00000578549.1_Missense_Mutation_p.R115W|AURKB_ENST00000316199.6_Missense_Mutation_p.R148W	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R147W(1)		breast(1)|central_nervous_system(1)|lung(2)	4						ATCCTCCTCCGGTCATAAAAA	0.527													G|||	2	0.000399361	0.0	0.0029	5008	,	,		14059	0.0		0.0	False		,,,				2504	0.0				NSCLC(134;1161 2470 43664 51568)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17						G	TRP/ARG	0,4406		0,0,2203	37.0	38.0	38.0		439	3.0	0.9	17	dbSNP_134	38	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AURKB	NM_004217.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	147/345	8110166	2,13004	2203	4300	6503	8050891	SO:0001583	missense	0			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.439C>T	17.37:g.8110166G>A	ENSP00000463999:p.Arg147Trp	806	0.12	1		NA	NA	NA	8050891	319	46.33	278	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	HMMSmart_SM00219,PatternScan_N6_MTASE,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R147W	ENST00000585124.1	37	c.439	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198624	0.38806	0.0	2.33E-4	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.08634	3.07	6.07	2.96	0.34315	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.253719	0.39759	N	0.001267	T	0.08846	0.0219	L	0.49126	1.545	0.80722	D	1	B;B	0.20368	0.044;0.044	B;B	0.06405	0.002;0.002	T	0.09271	-1.0682	10	0.72032	D	0.01	-30.0632	9.4351	0.38635	0.0746:0.2754:0.65:0.0	.	147;147	C7G533;Q96GD4	.;AURKB_HUMAN	W	147;106	ENSP00000443869:R106W	ENSP00000313950:R147W	R	-	1	2	AURKB	8050891	0.724000	0.28038	0.940000	0.37924	0.951000	0.60555	1.953000	0.40352	0.859000	0.35456	0.655000	0.94253	CGG	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.527	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	protein_coding	OTTHUMT00000226995.2	G	NM_004217		8050891	-1	no_errors	NM_004217.2	genbank	human	validated	54_36p	missense	SNP	0.999	A
ADAM11	4185	genome.wustl.edu	37	17	42837242	42837242	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr17:42837242C>T	ENST00000200557.6	+	2	383	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	72					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R72C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CACAAGGGTCCGCCAGGAGCC	0.697																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											11.0	14.0	13.0					17																	42837242		2189	4283	6472	40192768	SO:0001583	missense	0			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.214C>T	17.37:g.42837242C>T	ENSP00000200557:p.Arg72Cys	78	0.00	0		NA	NA	NA	40192768	74	41.41	53	Q14808|Q14809|Q14810	Missense_Mutation	SNP	"HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_EGF/Laminin"	p.R72C	ENST00000200557.6	37	c.214	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977204	0.34848	.	.	ENSG00000073670	ENST00000200557	T	0.02525	4.26	4.06	3.0	0.34707	Peptidase M12B, propeptide (1);	0.092675	0.43416	D	0.000568	T	0.10035	0.0246	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.01108	-1.1449	10	0.87932	D	0	.	8.8222	0.35032	0.0:0.7683:0.2317:0.0	.	72	O75078	ADA11_HUMAN	C	72	ENSP00000200557:R72C	ENSP00000200557:R72C	R	+	1	0	ADAM11	40192768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.653000	0.24902	1.781000	0.52344	0.455000	0.32223	CGC	-	HMMPfam_Pep_M12B_propep		0.697	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	protein_coding	OTTHUMT00000444531.1	C	NM_002390		40192768	+1	no_errors	NM_002390.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CCDC57	284001	genome.wustl.edu	37	17	80059710	80059710	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr17:80059710G>A	ENST00000389641.4	-	18	2635	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	CCDC57_ENST00000392347.1_Missense_Mutation_p.P867S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	867								p.P867S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ATCTTGACGGGCCTCCTGTCG	0.602																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											54.0	58.0	57.0					17																	80059710		2042	4199	6241	77652999	SO:0001583	missense	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2599C>T	17.37:g.80059710G>A	ENSP00000374292:p.Pro867Ser	154	0.00	0		NA	NA	NA	77652999	109	43.30	84	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.P866S	ENST00000389641.4	37	c.2596		17	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208752	0.39003	.	.	ENSG00000176155	ENST00000389641;ENST00000392347	T;T	0.11712	2.75;2.75	3.09	-0.569	0.11756	.	.	.	.	.	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	0.999995	B	0.06786	0.001	B	0.11329	0.006	T	0.39272	-0.9622	9	0.87932	D	0	.	2.2303	0.03994	0.3082:0.0:0.4457:0.2461	.	867	Q2TAC2	CCD57_HUMAN	S	867	ENSP00000374292:P867S;ENSP00000376158:P867S	ENSP00000374292:P867S	P	-	1	0	CCDC57	77652999	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.785000	0.04628	0.395000	0.25257	0.462000	0.41574	CCC	-	NULL		0.602	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	protein_coding	OTTHUMT00000277182.3	G	NM_198082		77652999	-1	no_errors	NM_198082.2	genbank	human	validated	54_36p	missense	SNP	0.000	A
THEG	51298	genome.wustl.edu	37	19	373949	373949	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr19:373949C>G	ENST00000342640.4	-	3	536	c.494G>C	c.(493-495)tGt>tCt	p.C165S	THEG_ENST00000346878.2_Intron	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	165					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.C165S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGAGACAGAAGTGCAA	0.612																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											133.0	94.0	107.0					19																	373949		2203	4300	6503	324949	SO:0001583	missense	0			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.494G>C	19.37:g.373949C>G	ENSP00000340088:p.Cys165Ser	373	0.00	0		NA	NA	NA	324949	166	37.36	99	A6NMJ8	Missense_Mutation	SNP	HMMSmart_SM00705	p.C165S	ENST00000342640.4	37	c.494	CCDS12025.1	19	.	.	.	.	.	.	.	.	.	.	C	1.733	-0.493767	0.04322	.	.	ENSG00000105549	ENST00000342640	T	0.36699	1.24	2.99	0.709	0.18150	.	0.291342	0.24373	N	0.039081	T	0.27384	0.0672	L	0.60455	1.87	0.58432	D	0.999997	B	0.19331	0.035	B	0.14023	0.01	T	0.05903	-1.0857	10	0.34782	T	0.22	-7.784	4.2338	0.10616	0.0:0.5694:0.286:0.1446	.	165	Q9P2T0	THEG_HUMAN	S	165	ENSP00000340088:C165S	ENSP00000340088:C165S	C	-	2	0	THEG	324949	1.000000	0.71417	0.797000	0.32132	0.050000	0.14768	0.901000	0.28445	0.278000	0.22164	-0.350000	0.07774	TGT	-	NULL		0.612	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	protein_coding	OTTHUMT00000384431.2	C			324949	-1	no_errors	NM_016585.3	genbank	human	reviewed	54_36p	missense	SNP	0.051	G
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					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.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(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)	TCCCATTTGAGATCATATTCAT	0.366			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	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.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup	NA	NA	NA		NA	NA	NA	27506255	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.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA
