#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
DACH2	117154	genome.wustl.edu	37	X	85415609	85415609	+	Intron	SNP	C	C	T			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chrX:85415609C>T	ENST00000373125.4	+	1	488				DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCAGTGATGCCGGCTGCTTTC	0.488													c|||	1	0.000264901	0.0	0.0	3775	,	,		14374	0.0		0.0	False		,,,				2504	0.001					dbGAP											0			X																																								85302265	SO:0001627	intron_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.488+11497C>T	X.37:g.85415609C>T		306	3.16	10		NA	NA	NA	85302265	105	87.10	709	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	HMMPfam_GTP_EFTU,HMMPfam_GTP_EFTU_D3,HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G246S	ENST00000373125.4	37	c.736	CCDS14455.1	X																																																																																			-	HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain		0.488	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100130211	protein_coding	OTTHUMT00000359266.1	C	NM_053281		85302265	-1	pseudogene	XM_001717632.1	genbank	human	model	54_36p	missense	SNP	1.000	T
RAB25	57111	genome.wustl.edu	37	1	156035781	156035781	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr1:156035781C>A	ENST00000361084.5	+	2	364	c.123C>A	c.(121-123)agC>agA	p.S41R	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	41					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.S45R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCACGACAGCCGCACCACCA	0.587																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											66.0	73.0	71.0					1																	156035781		2163	4268	6431	154302405	SO:0001583	missense	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.123C>A	1.37:g.156035781C>A	ENSP00000354376:p.Ser41Arg	718	1.78	13		NA	NA	NA	154302405	245	42.22	179	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540	p.S41R	ENST00000361084.5	37	c.123	CCDS41413.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434751	0.83885	.	.	ENSG00000132698	ENST00000361084	T	0.79554	-1.28	5.54	2.43	0.29744	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	L	0.55103	1.725	0.51012	D	0.999904	D	0.89917	1.0	D	0.80764	0.994	T	0.83025	-0.0165	10	0.87932	D	0	.	10.8459	0.46743	0.0:0.7572:0.0:0.2428	.	41	P57735	RAB25_HUMAN	R	41	ENSP00000354376:S41R	ENSP00000354376:S41R	S	+	3	2	RAB25	154302405	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.801000	0.55545	0.871000	0.35750	0.655000	0.94253	AGC	-	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540		0.587	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	protein_coding	OTTHUMT00000046185.1	C			154302405	+1	no_errors	NM_020387.2	genbank	human	provisional	54_36p	missense	SNP	0.993	A
MAGI1	9223	genome.wustl.edu	37	3	65416493	65416493	+	Missense_Mutation	SNP	C	C	T	rs375653415		TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr3:65416493C>T	ENST00000497477.2	-	11	1426	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Missense_Mutation_p.R476Q|MAGI1_ENST00000402939.2_Missense_Mutation_p.R476Q|MAGI1_ENST00000483466.1_Missense_Mutation_p.R476Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	476	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.R476Q(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACTGCTTTTCCGCAGCTTTGT	0.463																																						dbGAP											4	Substitution - Missense(4)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	3						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	143.0	124.0	130.0		1427,1427,1427	5.7	1.0	3		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	476/1463,476/1257,476/1288	65416493	1,13005	2203	4300	6503	65391533	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1427G>A	3.37:g.65416493C>T	ENSP00000424369:p.Arg476Gln	743	1.59	12		NA	NA	NA	65391533	1076	43.88	843	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R476Q	ENST00000497477.2	37	c.1427		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.65|17.65	3.441532|3.441532	0.63067|0.63067	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.26067	.|1.76;1.76;1.76;1.76;1.76;1.76	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.097054	.|0.64402	.|N	.|0.000002	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.03050|0.03050	-0.425|-0.425	0.49798|0.49798	D|D	0.999825|0.999825	.|D;D;P;B;B	.|0.61697	.|0.957;0.99;0.886;0.081;0.181	.|P;P;B;B;B	.|0.52710	.|0.481;0.707;0.272;0.07;0.044	T|T	0.25745|0.25745	-1.0123|-1.0123	5|10	.|0.14656	.|T	.|0.56	-20.4479|-20.4479	19.914|19.914	0.97034|0.97034	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|476;476;476;476;476	.|Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	R|Q	357|476;476;372;351;476;476;262	.|ENSP00000385450:R476Q;ENSP00000331157:R476Q;ENSP00000418177:R351Q;ENSP00000420323:R476Q;ENSP00000424369:R476Q;ENSP00000420796:R262Q	.|ENSP00000331157:R476Q	G|R	-|-	1|2	0|0	MAGI1|MAGI1	65391533|65391533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.492000|3.492000	0.53259|0.53259	2.712000|2.712000	0.92718|0.92718	0.557000|0.557000	0.71058|0.71058	GGA|CGG	-	HMMPfam_PDZ,superfamily_PDZ domain-like		0.463	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	protein_coding	OTTHUMT00000349132.2	C	NM_004742		65391533	-1	no_errors	NM_001033057.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PDK4	5166	genome.wustl.edu	37	7	95217098	95217098	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr7:95217098G>A	ENST00000005178.5	-	8	1008	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	271	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.P271S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTAAGGGAAGGCTGATTTTCC	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											84.0	81.0	82.0					7																	95217098		2203	4300	6503	95055034	SO:0001583	missense	0			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.811C>T	7.37:g.95217098G>A	ENSP00000005178:p.Pro271Ser	384	3.76	15		NA	NA	NA	95055034	571	42.63	425		Missense_Mutation	SNP	HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain	p.P271S	ENST00000005178.5	37	c.811	CCDS5643.1	7	.	.	.	.	.	.	.	.	.	.	G	0.251	-1.006547	0.02112	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.32988	1.43	5.61	4.73	0.59995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.155147	0.64402	D	0.000015	T	0.14442	0.0349	N	0.04320	-0.23	0.28606	N	0.908906	B	0.02656	0.0	B	0.04013	0.001	T	0.12941	-1.0528	10	0.15499	T	0.54	.	13.0301	0.58837	0.0746:0.0:0.9254:0.0	.	271	Q16654	PDK4_HUMAN	S	271;235	ENSP00000005178:P271S	ENSP00000005178:P271S	P	-	1	0	PDK4	95055034	0.031000	0.19500	0.868000	0.34077	0.137000	0.21094	0.630000	0.24553	1.517000	0.48917	0.591000	0.81541	CCT	-	HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase		0.398	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	protein_coding	OTTHUMT00000333298.1	G	NM_002612		95055034	-1	no_errors	NM_002612.3	genbank	human	reviewed	54_36p	missense	SNP	0.859	A
CBL	867	genome.wustl.edu	37	11	119148880	119148880	+	Missense_Mutation	SNP	A	A	G	rs267606704		TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr11:119148880A>G	ENST00000264033.4	+	8	1476	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	367	Asp/Glu-rich (acidic).|Linker.		Q -> P (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion). {ECO:0000269|PubMed:20619386}.		cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.?(3)|p.Q367R(2)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCAAAGGAACAATATGAATTA	0.299			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	19	Deletion - In frame(14)|Unknown(3)|Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(19)	11											43.0	43.0	43.0					11																	119148880		2199	4295	6494	118654090	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1100A>G	11.37:g.119148880A>G	ENSP00000264033:p.Gln367Arg	138	1.43	2		NA	NA	NA	118654090	86	70.75	208	A3KMP8	Missense_Mutation	SNP	HMMPfam_UBA,HMMSmart_RING,HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N,HMMPfam_Cbl_N2,HMMPfam_Cbl_N3,HMMSmart_UBA,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF47473,superfamily_SSF55550,superfamily_SSF57850	p.Q367R	ENST00000264033.4	37	c.1100	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006685	0.54361	.	.	ENSG00000110395	ENST00000264033	D	0.95588	-3.75	5.65	4.51	0.55191	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.97332	0.9951	10	0.87932	D	0	-42.9612	13.1617	0.59548	0.8665:0.1334:0.0:0.0	.	367	P22681	CBL_HUMAN	R	367	ENSP00000264033:Q367R	ENSP00000264033:Q367R	Q	+	2	0	CBL	118654090	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.910000	0.92685	1.058000	0.40530	-0.323000	0.08544	CAA	-	superfamily_SSF57850		0.299	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	protein_coding	OTTHUMT00000388219.4	A	NM_005188		118654090	+1	no_errors	NM_005188.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
GABRG3	2567	genome.wustl.edu	37	15	27772760	27772760	+	Silent	SNP	G	G	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr15:27772760G>A	ENST00000333743.6	+	8	1301	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	349					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T349T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAACCACCACGAAGAAGACAA	0.493																																					NSCLC(114;800 1656 7410 37729 45293)	dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											55.0	49.0	51.0					15																	27772760		2033	4189	6222	25446355	SO:0001819	synonymous_variant	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1047G>A	15.37:g.27772760G>A		892	3.14	29		NA	NA	NA	25446355	989	45.69	833	G3V594|Q9HD46|Q9NYT2	Silent	SNP	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL	p.T349	ENST00000333743.6	37	c.1047	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107251	0.06924	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.49798	D	0.999822	.	.	.	.	.	.	T	0.52815	-0.8525	4	.	.	.	.	2.9322	0.05803	0.1844:0.3012:0.3602:0.1542	.	.	.	.	Q	112	.	.	R	+	2	0	GABRG3	25446355	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-1.270000	0.02831	-4.266000	0.00060	-2.102000	0.00361	CGA	-	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM		0.493	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	protein_coding	OTTHUMT00000103584.2	G			25446355	+1	no_errors	ENST00000333743	ensembl	human	known	54_36p	silent	SNP	0.011	A
DLX3	1747	genome.wustl.edu	37	17	48068899	48068899	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr17:48068899G>T	ENST00000434704.2	-	3	1071	c.846C>A	c.(844-846)aaC>aaA	p.N282K	DLX3_ENST00000512495.2_Missense_Mutation_p.N162K	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	282					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N282K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGCCCCAGGGTTGGGCGGGG	0.642																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											15.0	17.0	16.0					17																	48068899		2191	4286	6477	45423898	SO:0001583	missense	0				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.846C>A	17.37:g.48068899G>T	ENSP00000389870:p.Asn282Lys	585	2.01	12		NA	NA	NA	45423898	206	41.36	146	B3KQL6	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1	p.N282K	ENST00000434704.2	37	c.846	CCDS11556.1	17	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635713	0.14322	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.90444	-2.59;-2.67	4.76	2.63	0.31362	.	0.160733	0.53938	D	0.000048	T	0.80623	0.4658	N	0.19112	0.55	0.39787	D	0.972388	B	0.02656	0.0	B	0.04013	0.001	T	0.75731	-0.3215	10	0.59425	D	0.04	-27.5001	5.8474	0.18673	0.2408:0.0:0.7592:0.0	.	282	O60479	DLX3_HUMAN	K	282;162	ENSP00000389870:N282K;ENSP00000449976:N162K	ENSP00000389870:N282K	N	-	3	2	DLX3	45423898	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	0.841000	0.27613	1.245000	0.43885	0.556000	0.70494	AAC	-	NULL		0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	protein_coding	OTTHUMT00000366307.1	G			45423898	-1	no_errors	NM_005220.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SUPT5H	6829	genome.wustl.edu	37	19	39949653	39949653	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr19:39949653G>C	ENST00000599117.1	+	8	765	c.398G>C	c.(397-399)cGa>cCa	p.R133P	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R133P|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R133P|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R129P|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R129P			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	133					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R133P(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGACCAGCGAGAAGAAGAA	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											122.0	112.0	116.0					19																	39949653		2203	4300	6503	44641493	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.398G>C	19.37:g.39949653G>C	ENSP00000470252:p.Arg133Pro	1241	3.50	45		NA	NA	NA	44641493	783	39.83	521	O43279|Q59G52|Q99639	Missense_Mutation	SNP	HMMPfam_Supt5,HMMPfam_KOW,HMMSmart_SM00739,HMMSmart_SM00738,superfamily_Translation proteins SH3-like domain	p.R133P	ENST00000599117.1	37	c.398	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820968	0.90873	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.48	4.48	0.54585	Spt5 transcription elongation factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	L	0.40543	1.245	0.80722	D	1	P;D	0.53462	0.951;0.96	P;P	0.53861	0.617;0.736	T	0.59016	-0.7533	8	.	.	.	-6.0125	16.4662	0.84079	0.0:0.0:1.0:0.0	.	129;133	O00267-2;O00267	.;SPT5H_HUMAN	P	133;129;111;133	.	.	R	+	2	0	SUPT5H	44641493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.600000	0.98282	2.507000	0.84556	0.650000	0.86243	CGA	-	NULL		0.567	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	protein_coding	OTTHUMT00000464918.1	G	NM_003169		44641493	+1	no_errors	NM_003169.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
HNRNPUL1	11100	genome.wustl.edu	37	19	41787083	41787083	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr19:41787083C>T	ENST00000392006.3	+	7	1075	c.902C>T	c.(901-903)tCc>tTc	p.S301F	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.S201F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.S212F|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.S301F|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.S201F|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.S201F	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S301F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGCCTTTCTCCTATGGCTAT	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											90.0	73.0	78.0					19																	41787083		2203	4300	6503	46478923	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.902C>T	19.37:g.41787083C>T	ENSP00000375863:p.Ser301Phe	516	1.15	6		NA	NA	NA	46478923	537	44.42	430	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	HMMPfam_SAP,HMMSmart_SM00513,HMMPfam_SPRY,HMMSmart_SM00449,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_SAP domain	p.S301F	ENST00000392006.3	37	c.902	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.082914	0.94050	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000263367	T;T;T	0.79554	-1.28;-1.28;-1.28	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	H	0.95574	3.69	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.94560	0.7761	10	0.87932	D	0	-19.6269	18.9646	0.92691	0.0:1.0:0.0:0.0	.	212;201;301;301;201	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	F	201;301;212	ENSP00000340857:S201F;ENSP00000375863:S301F;ENSP00000263367:S212F	ENSP00000263367:S212F	S	+	2	0	HNRNPUL1	46478923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.385000	0.79763	2.771000	0.95319	0.563000	0.77884	TCC	-	HMMPfam_SPRY,HMMSmart_SM00449		0.478	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	protein_coding	OTTHUMT00000463406.1	C	NM_144732, NM_007040		46478923	+1	no_errors	NM_007040.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TRPC4AP	26133	genome.wustl.edu	37	20	33680571	33680571	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr20:33680571G>A	ENST00000252015.2	-	1	103	c.14C>T	c.(13-15)cCg>cTg	p.P5L	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P5L|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.P5L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	5	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.P5L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCCGCTACCGGCGCCGCCGC	0.741																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											4.0	6.0	5.0					20																	33680571		1149	2735	3884	33144232	SO:0001583	missense	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.14C>T	20.37:g.33680571G>A	ENSP00000252015:p.Pro5Leu	129	0.76	1		NA	NA	NA	33144232	77	43.75	63	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	NULL	p.P5L	ENST00000252015.2	37	c.14	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309780	0.40895	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	4.11	3.13	0.36017	.	0.472364	0.22735	N	0.056280	T	0.41581	0.1165	N	0.19112	0.55	0.80722	D	1	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.15052	0.012;0.012;0.012	T	0.40627	-0.9553	9	0.87932	D	0	.	11.0681	0.47987	0.0:0.0:0.8136:0.1864	.	5;5;5	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	L	5	.	ENSP00000252015:P5L	P	-	2	0	TRPC4AP	33144232	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	2.996000	0.49449	1.260000	0.44134	0.650000	0.86243	CCG	-	NULL		0.741	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	protein_coding	OTTHUMT00000078832.2	G	NM_015638		33144232	-1	no_errors	NM_015638.2	genbank	human	validated	54_36p	missense	SNP	0.997	A
GPBP1	65056	genome.wustl.edu	37	5	56542934	56542935	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr5:56542934_56542935insA	ENST00000506184.2	+	8	1801_1802	c.696_697insA	c.(697-699)aaafs	p.K233fs	GPBP1_ENST00000538707.1_Frame_Shift_Ins_p.K240fs|GPBP1_ENST00000424459.3_Frame_Shift_Ins_p.K253fs|GPBP1_ENST00000514387.2_Frame_Shift_Ins_p.K62fs|GPBP1_ENST00000264779.6_Frame_Shift_Ins_p.K240fs|GPBP1_ENST00000454432.2_Frame_Shift_Ins_p.K253fs|GPBP1_ENST00000511209.1_Frame_Shift_Ins_p.K240fs			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	233					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CAAAAGAAAATAAAGTTGGAAC	0.351																																						dbGAP											0			5																																								56578692	SO:0001589	frameshift_variant	0				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.699dupA	5.37:g.56542937_56542937dupA	ENSP00000421202:p.Lys233fs	168	0.00	0		NA	NA	NA	56578691	239	34.16	124	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Frame_Shift_Ins	INS	NULL	p.V233fs	ENST00000506184.2	37	c.696_697	CCDS34162.1	5																																																																																			-	NULL		0.351	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	protein_coding	OTTHUMT00000374496.1	-	NM_022913		56578692	+1	no_errors	NM_022913.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	A
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCAG			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	-	-	-	TCAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr5:170837547_170837548insTCAG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCAG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insTCAG	ENSP00000296930:p.Trp288fs	NA	NA	NA		NA	NA	NA	170770152	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCAG
WT1	7490	genome.wustl.edu	37	11	32417846	32417847	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	AT	AT	AT	-	AT	AT	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr11:32417846_32417847delAT	ENST00000379079.2	-	7	842_843	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	WT1_ENST00000332351.3_Frame_Shift_Del_p.Y402fs|WT1_ENST00000530998.1_Frame_Shift_Del_p.Y173fs|WT1_ENST00000448076.3_Frame_Shift_Del_p.Y402fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	334					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y334fs*1(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACAGCTTAAAATATCTCTTATT	0.53			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	11																																								32374423	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.569_570delAT	11.37:g.32417848_32417849delAT	ENSP00000368370:p.Tyr190fs	0	1.60	6		NA	NA	NA	32374422	0	35.20	170	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Del	DEL	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.Y402fs	ENST00000379079.2	37	c.1206_1205	CCDS55751.1	11																																																																																			-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.530	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	AT	NM_000378		32374423	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000	-
