#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
TRO	7216	genome.wustl.edu	37	X	54956611	54956611	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chrX:54956611G>A	ENST00000173898.7	+	12	3566	c.3454G>A	c.(3454-3456)Gct>Act	p.A1152T	TRO_ENST00000420798.2_Missense_Mutation_p.A683T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.A755T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1152	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTTGGTGGAGCTCCCAGCAC	0.567																																						dbGAP											0			X											61.0	61.0	61.0					X																	54956611		2003	4160	6163	54973336	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3454G>A	X.37:g.54956611G>A	ENSP00000173898:p.Ala1152Thr	34	5.56	2		0	100.00	3	54973336	47	37.33	28	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	HMMPfam_MAGE	p.A1152T	ENST00000173898.7	37	c.3454	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590322	0.66105	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.14144	2.53;2.53;2.53	2.88	0.963	0.19649	.	.	.	.	.	T	0.20981	0.0505	L	0.54323	1.7	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.61477	0.852;0.889	T	0.13737	-1.0498	9	0.41790	T	0.15	.	1.2184	0.01918	0.1395:0.2234:0.4046:0.2326	.	755;1152	B1AKE9;Q12816	.;TROP_HUMAN	T	1152;683;755	ENSP00000173898:A1152T;ENSP00000405126:A683T;ENSP00000364181:A755T	ENSP00000173898:A1152T	A	+	1	0	TRO	54973336	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-0.256000	0.08757	0.121000	0.18284	0.553000	0.69018	GCT	-	NULL		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	protein_coding	OTTHUMT00000056837.3	G	NM_016157		54973336	+1	no_errors	NM_001039705.1	genbank	human	reviewed	54_36p	missense	SNP	0.002	A
CYP4A22	284541	genome.wustl.edu	37	1	47614423	47614423	+	Missense_Mutation	SNP	G	G	A	rs375990198		TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr1:47614423G>A	ENST00000371891.3	+	12	1545	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R407H|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	505						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCCACCTGCGTCTCAGGAGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19417	0.0		0.0	False		,,,				2504	0.0				Pancreas(88;1240 1470 2099 14214 37557)	dbGAP											0			1											93.0	82.0	85.0					1																	47614423		2203	4299	6502	47387010	SO:0001583	missense	0				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1514G>A	1.37:g.47614423G>A	ENSP00000360958:p.Arg505His	76	5.00	4		NA	NA	NA	47387010	36	53.25	41	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.R505H	ENST00000371891.3	37	c.1514	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	0.054	-1.242031	0.01481	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	T;T	0.74526	-0.85;-0.49	1.69	-1.17	0.09648	.	1.801490	0.02402	N	0.080781	T	0.59756	0.2217	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48937	-0.8990	10	0.02654	T	1	.	8.12	0.30965	0.875:0.0:0.125:0.0	.	505	Q5TCH4	CP4AM_HUMAN	H	407;505	ENSP00000360957:R407H;ENSP00000360958:R505H	ENSP00000360957:R407H	R	+	2	0	CYP4A22	47387010	0.000000	0.05858	0.122000	0.21767	0.361000	0.29550	-0.116000	0.10724	-0.502000	0.06596	-1.111000	0.02071	CGT	-	HMMPfam_p450,superfamily_Cytochrome P450		0.577	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47387010	+1	no_errors	NM_001010969.2	genbank	human	reviewed	54_36p	missense	SNP	0.934	A
MAT1A	4143	genome.wustl.edu	37	10	82039990	82039990	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr10:82039990C>T	ENST00000372213.3	-	5	748	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	163					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTCTGCCATCCGGGCGTTGAG	0.602																																						dbGAP											0			10											78.0	84.0	82.0					10																	82039990		2203	4300	6503	82029970	SO:0001583	missense	0				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.488G>A	10.37:g.82039990C>T	ENSP00000361287:p.Arg163Gln	67	9.09	7		NA	NA	NA	82029970	33	62.07	54	D3DWD5|Q5QP09	Missense_Mutation	SNP	HMMPfam_S-AdoMet_synt_N,HMMPfam_S-AdoMet_synt_M,HMMPfam_S-AdoMet_synt_C,PatternScan_ADOMET_SYNTHETASE_1,PatternScan_ADOMET_SYNTHETASE_2,superfamily_S-AdoMet_synt	p.R163Q	ENST00000372213.3	37	c.488	CCDS7365.1	10	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350979	0.24512	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.83075	-1.68;-1.68	4.91	2.02	0.26589	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.230050	0.44097	N	0.000495	T	0.74359	0.3706	L	0.50919	1.6	0.43632	D	0.996021	B	0.27765	0.188	B	0.21360	0.034	T	0.66712	-0.5854	10	0.51188	T	0.08	-16.0172	7.6639	0.28419	0.0:0.6518:0.0:0.3482	.	163	Q00266	METK1_HUMAN	Q	163;163;100	ENSP00000361287:R163Q;ENSP00000414961:R100Q	ENSP00000361280:R163Q	R	-	2	0	MAT1A	82029970	0.998000	0.40836	0.892000	0.35008	0.012000	0.07955	1.173000	0.31920	0.220000	0.20860	-0.749000	0.03505	CGG	-	HMMPfam_S-AdoMet_synt_M,superfamily_S-AdoMet_synt		0.602	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT1A	protein_coding	OTTHUMT00000049070.1	C	NM_000429		82029970	-1	no_errors	NM_000429.2	genbank	human	reviewed	54_36p	missense	SNP	0.977	T
PC	5091	genome.wustl.edu	37	11	66638943	66638943	+	Silent	SNP	G	G	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr11:66638943G>A	ENST00000393958.2	-	5	423	c.330C>T	c.(328-330)aaC>aaT	p.N110N	PC_ENST00000524491.1_Silent_p.N70N|PC_ENST00000393955.2_Silent_p.N110N|PC_ENST00000393960.1_Silent_p.N110N|PC_ENST00000355677.3_Silent_p.N110N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	110	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTGCATCTACGTTGTTCTCCT	0.632																																						dbGAP											0			11											73.0	78.0	77.0					11																	66638943		2200	4295	6495	66395519	SO:0001819	synonymous_variant	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.330C>T	11.37:g.66638943G>A		20	4.76	1		0	100.00	2	66395519	4	60.00	6	B4DN00|Q16705	Silent	SNP	HMMPfam_Biotin_lipoyl,HMMPfam_HMGL-like,PatternScan_BIOTIN,HMMPfam_PYC_OADA,HMMPfam_CPSase_L_D2,HMMPfam_CPSase_L_chain,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,superfamily_Rudmnt_hyb_motif,superfamily_PreATP-grasp-like,superfamily_SSF51569,superfamily_SSF56059,superfamily_SSF89000	p.N110	ENST00000393958.2	37	c.330	CCDS8152.1	11																																																																																			-	HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like		0.632	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	protein_coding	OTTHUMT00000393115.1	G	NM_001040716		66395519	-1	no_errors	NM_000920.3	genbank	human	reviewed	54_36p	silent	SNP	0.244	A
KCNA5	3741	genome.wustl.edu	37	12	5154834	5154834	+	Silent	SNP	C	C	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr12:5154834C>A	ENST00000252321.3	+	1	1750	c.1521C>A	c.(1519-1521)acC>acA	p.T507T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	507					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGGTCCTCACCATTGCCCTGC	0.607																																						dbGAP											0			12											104.0	95.0	98.0					12																	5154834		2203	4300	6503	5025095	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1521C>A	12.37:g.5154834C>A		31	6.06	2		1	66.67	2	5025095	22	45.00	18	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels	p.T507	ENST00000252321.3	37	c.1521	CCDS8536.1	12																																																																																			-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	protein_coding	OTTHUMT00000398925.2	C	NM_002234		5025095	+1	no_errors	NM_002234.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ZSCAN5A	79149	genome.wustl.edu	37	19	56734093	56734093	+	Silent	SNP	T	T	C			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr19:56734093T>C	ENST00000587340.1	-	6	1301	c.606A>G	c.(604-606)ctA>ctG	p.L202L	ZSCAN5A_ENST00000391713.1_Silent_p.L202L|ZSCAN5A_ENST00000592355.1_Silent_p.L202L|ZSCAN5A_ENST00000587492.1_Silent_p.L56L|ZSCAN5A_ENST00000254165.3_Silent_p.L85L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	202					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L202L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACTCTTGTGTAGCAGAAAGT	0.488																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)	19											150.0	127.0	134.0					19																	56734093		2203	4300	6503	61425905	SO:0001819	synonymous_variant	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.606A>G	19.37:g.56734093T>C		68	8.11	6		6	50.00	6	61425905	56	50.00	56	B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.L202	ENST00000587340.1	37	c.606	CCDS12941.1	19																																																																																			-	NULL		0.488	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	protein_coding	OTTHUMT00000458110.1	T	NM_024303		61425905	-1	no_errors	NM_024303.1	genbank	human	provisional	54_36p	silent	SNP	0.014	C
ARAP2	116984	genome.wustl.edu	37	4	36149165	36149168	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	CTTA	CTTA	CTTA	-	CTTA	CTTA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr4:36149165_36149168delCTTA	ENST00000303965.4	-	18	3689		c.e18+1			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAAAAAAGCTCTTACTTAGCTCTT	0.377																																						dbGAP											0			4																																								35825563	SO:0001630	splice_region_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3199+1TAAG>-	4.37:g.36149169_36149172delCTTA		NA	NA	NA		NA	NA	NA	35825560	NA	NA	NA	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	DEL	-	e17+2	ENST00000303965.4	37	c.3199+2_3199+1	CCDS3441.1	4																																																																																			-	-		0.377	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	CTTA	NM_015230	Intron	35825563	-1	no_errors	NM_015230.2	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.990:0.994:0.996:1.000	-
Unknown	0	genome.wustl.edu	37	6	159947376	159947377	+	IGR	INS	-	-	TT	rs373852377		TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	TT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr6:159947376_159947377insTT								RP11-125D12.2 (129901 upstream) : RP3-393E18.2 (60609 downstream)																							TCGTAGACTCCCAGTTTTGCCA	0.421																																						dbGAP											0			6																																								159867367	SO:0001628	intergenic_variant	0																															6.37:g.159947376_159947377insTT		19	0.00	0		0	0.00	0	159867366	14	0.00	0		RNA	INS	-	NULL		37	NULL		6																																																																																			-	-	0	0.421					LOC642738			-			159867367	-1	pseudogene	XR_017625.2	genbank	human	model	54_36p	rna	INS	1.000:1.000	TT
OR5P2	120065	genome.wustl.edu	37	11	7818383	7818384	+	In_Frame_Ins	INS	-	-	ATATGGTTACCAGGTAGATGC	rs138967151	byFrequency	TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	ATATGGTTACCAGGTAGATGC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr11:7818383_7818384insATATGGTTACCAGGTAGATGC	ENST00000329434.2	-	1	136_137	c.106_107insGCATCTACCTGGTAACCATAT	c.(106-108)tct>tGCATCTACCTGGTAACCATATct	p.35_36insCIYLVTI	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGATTACCAGATAGGATGATC	0.436														1170	0.233626	0.3404	0.2896	5008	,	,		17899	0.128		0.2763	False		,,,				2504	0.1145					dbGAP											0			11																																								7774960	SO:0001652	inframe_insertion	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.106_107insGCATCTACCTGGTAACCATAT	11.37:g.7818383_7818384insATATGGTTACCAGGTAGATGC	ENSP00000331823:p.Leu35_Ser36insCysIleTyrLeuValThrIle	NA	NA	NA		NA	NA	NA	7774959	NA	NA	NA	Q3MIS8	In_Frame_Ins	INS	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.36in_frame_insCIYLVTI	ENST00000329434.2	37	c.107_106	CCDS7782.1	11																																																																																			-	superfamily_SSF81321		0.436	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	protein_coding	OTTHUMT00000385696.1	-	NM_153444		7774960	-1	no_errors	NM_153444.1	genbank	human	provisional	54_36p	in_frame_ins	INS	0.149:0.139	ATATGGTTACCAGGTAGATGC
WT1	7490	genome.wustl.edu	37	11	32417941	32417942	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr11:32417941_32417942insA	ENST00000379079.2	-	7	747_748	c.474_475insT	c.(472-477)cgtgtgfs	p.V159fs	WT1_ENST00000332351.3_Frame_Shift_Ins_p.V371fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.V142fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.V371fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	303					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.V303fs*14(8)|p.V303fs*5(3)|p.V303fs*1(3)|p.V303fs*15(2)|p.R301fs*3(1)|p.V303fs*7(1)|p.R301fs*6(1)|p.?(1)|p.R302fs*7(1)|p.V300fs*6(1)|p.?fs(1)|p.R301fs*73(1)|p.V303fs*16(1)|p.R302fs*12(1)|p.R302fs*16(1)|p.R302fs*17(1)|p.R302fs*14(1)|p.V303fs*23(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)			ACTCCAGGCACACGTCGCACAT	0.51			"""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	30	Insertion - Frameshift(19)|Complex - frameshift(8)|Deletion - Frameshift(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(30)	11																																								32374518	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.475dupT	11.37:g.32417942_32417942dupA	ENSP00000368370:p.Val159fs	27	3.57	1		1	90.00	9	32374517	7	53.33	8	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.V370fs	ENST00000379079.2	37	c.1111_1110	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.510	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374518	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:0.986	A
WT1	7490	genome.wustl.edu	37	11	32417945	32417946	+	Frame_Shift_Ins	INS	-	-	C	rs16754	byFrequency	TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr11:32417945_32417946insC	ENST00000379079.2	-	7	743_744	c.470_471insG	c.(469-471)cgafs	p.R157fs	WT1_ENST00000332351.3_Frame_Shift_Ins_p.R369fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.R140fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.R369fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	301					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.R302fs*15(5)|p.?(2)|p.R301fs*16(2)|p.R301fs*7(2)|p.R301fs*3(1)|p.R301fs*11(1)|p.R302fs*11(1)|p.R301fs*17(1)|p.R301fs*6(1)|p.V300fs*6(1)|p.R301fs*19(1)|p.R301fs*8(1)|p.D299fs*15(1)|p.R301fs*73(1)|p.R302fs*12(1)|p.R302fs*5(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)			CAGGCACACGTCGCACATCCTG	0.52			"""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	23	Complex - frameshift(10)|Insertion - Frameshift(8)|Deletion - Frameshift(3)|Unknown(2)	haematopoietic_and_lymphoid_tissue(21)|kidney(2)	11																																								32374522	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.471dupG	11.37:g.32417946_32417946dupC	ENSP00000368370:p.Arg157fs	27	0.00	0		9	0.00	0	32374521	11	26.67	4	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R370fs	ENST00000379079.2	37	c.1107_1106	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.520	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374522	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.458:0.832	C
FLT3	2322	genome.wustl.edu	37	13	28608273	28608274	+	In_Frame_Ins	INS	-	-	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr13:28608273_28608274insGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	ENST00000241453.7	-	14	1863_1864	c.1782_1783insGGTACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTC	c.(1780-1785)ttcaga>ttcGGTACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCaga	p.593_594insFGTGSSDNEYFYVD	FLT3_ENST00000537084.1_In_Frame_Ins_p.593_594insFGTGSSDNEYFYVD|FLT3_ENST00000380982.4_In_Frame_Ins_p.593_594insFGTGSSDNEYFYVD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	593	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				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.F594_R595insSDNEYFYVDF(2)|p.F594_R595ins12(2)|p.F590_F594>L(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)	TCATATTCTCTGAAATCAACGT	0.381			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(4)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506274	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.1782_1783insGGTACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTC	13.37:g.28608273_28608274insGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	ENSP00000241453:p.Asp593_Phe594insPheGlyThrGlySerSerAspAsnGluTyrPheTyrValAsp	NA	NA	NA		NA	NA	NA	27506273	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.594in_frame_insGTGSSDNEYFYVDF	ENST00000241453.7	37	c.1783_1782	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506274	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC
KRT18P40	390904	genome.wustl.edu	37	19	21145434	21145435	+	IGR	INS	-	-	G	rs35599227|rs369816089	byFrequency	TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr19:21145434_21145435insG								ZNF85 (11931 upstream) : CTD-2542C24.8 (9632 downstream)																							GCAACATCCATGGCTTTGCAAA	0.53													|||unknown(NO_COVERAGE)	1035	0.206669	0.2663	0.1369	5008	,	,		22091	0.1488		0.2425	False		,,,				2504	0.1984					dbGAP											0			19																																								20937275	SO:0001628	intergenic_variant	0																															19.37:g.21145436_21145436dupG		11	8.33	1		0	0.00	0	20937274	14	33.33	7		RNA	INS	-	NULL		37	NULL		19																																																																																			-	-	0	0.530					KRT18P40			-			20937275	+1	pseudogene	XR_017288.1	genbank	human	model	54_36p	rna	INS	0.997:1.000	G
