#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
RERE	473	genome.wustl.edu	37	1	8526072	8526072	+	Silent	SNP	G	G	A			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr1:8526072G>A	ENST00000337907.3	-	12	1750	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	RERE_ENST00000400908.2_Silent_p.S372S|RERE_ENST00000377464.1_Silent_p.S104S|RERE_ENST00000400907.2_Silent_p.S372S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	372	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CATCGTAACCGCTTTCATGCA	0.502																																						dbGAP											0			1											79.0	67.0	71.0					1																	8526072		2203	4300	6503	8448659	SO:0001819	synonymous_variant	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1116C>T	1.37:g.8526072G>A		75	8.54	7		28	51.72	30	8448659	134	40.68	96	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	HMMPfam_GATA,HMMSmart_SM00401,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_Atrophin-1,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.S372	ENST00000337907.3	37	c.1116	CCDS95.1	1																																																																																			-	NULL		0.502	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	protein_coding	OTTHUMT00000004916.1	G			8448659	-1	no_errors	NM_001042681.1	genbank	human	reviewed	54_36p	silent	SNP	0.989	A
ABCA4	24	genome.wustl.edu	37	1	94490594	94490594	+	Missense_Mutation	SNP	C	C	T	rs201523394		TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr1:94490594C>T	ENST00000370225.3	-	31	4636	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1517			R -> S (in ARMD2; dbSNP:rs1800550).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCCGTGCTGCGCTGTGTTCT	0.413																																						dbGAP											0			1						C	HIS/ARG	0,4406		0,0,2203	123.0	115.0	118.0		4550	2.2	1.0	1		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA4	NM_000350.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1517/2274	94490594	1,13005	2203	4300	6503	94263182	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4550G>A	1.37:g.94490594C>T	ENSP00000359245:p.Arg1517His	203	4.23	9		NA	NA	NA	94263182	197	38.12	122	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540	p.R1517H	ENST00000370225.3	37	c.4550	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590293	0.28357	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.90732	-2.72	5.09	2.18	0.27775	.	0.694969	0.15078	N	0.281817	T	0.64148	0.2572	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.54410	-0.8298	10	0.13108	T	0.6	.	2.8474	0.05547	0.1261:0.5427:0.1224:0.2088	.	1517	P78363	ABCA4_HUMAN	H	309;1517	ENSP00000359245:R1517H	ENSP00000359245:R1517H	R	-	2	0	ABCA4	94263182	0.982000	0.34865	0.993000	0.49108	0.696000	0.40369	0.263000	0.18478	0.309000	0.22966	-0.126000	0.14955	CGC	-	NULL		0.413	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94263182	-1	no_errors	NM_000350.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	T
DNMT3A	1788	genome.wustl.edu	37	2	25468910	25468910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr2:25468910G>A	ENST00000264709.3	-	12	1790	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q485*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q296*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q262*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	485	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCACTTCTGCCGCACCTCG	0.612			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											107.0	84.0	92.0					2																	25468910		2203	4300	6503	25322414	SO:0001587	stop_gained	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1453C>T	2.37:g.25468910G>A	ENSP00000264709:p.Gln485*	16	5.88	1		37	28.85	15	25322414	44	51.11	46	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.Q485*	ENST00000264709.3	37	c.1453	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.286650	0.98742	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.34	5.34	0.76211	.	0.062183	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-10.0876	16.5601	0.84551	0.0:0.0:1.0:0.0	.	.	.	.	X	296;485;485;262	.	ENSP00000264709:Q485X	Q	-	1	0	DNMT3A	25322414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.175000	0.58263	2.498000	0.84270	0.643000	0.83706	CAG	-	NULL		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25322414	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
PAX3	5077	genome.wustl.edu	37	2	223086090	223086090	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr2:223086090C>T	ENST00000350526.4	-	6	945	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.R270H|PAX3_ENST00000336840.6_Missense_Mutation_p.R270H|PAX3_ENST00000344493.4_Missense_Mutation_p.R270H|PAX3_ENST00000409551.3_Missense_Mutation_p.R269H|PAX3_ENST00000392070.2_Missense_Mutation_p.R270H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	270			R -> C (in WS1 and WS3). {ECO:0000269|PubMed:8589691, ECO:0000269|PubMed:8845842, ECO:0000269|Ref.35}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTGCACGGCGGTTGCTAAA	0.423			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															dbGAP		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0			2											115.0	124.0	121.0					2																	223086090		2203	4300	6503	222794334	SO:0001583	missense	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.809G>A	2.37:g.223086090C>T	ENSP00000343052:p.Arg270His	57	5.00	3		NA	NA	NA	222794334	115	34.83	62	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1	p.R270H	ENST00000350526.4	37	c.809	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883184	0.91740	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.97682	4.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;1.0;0.998	D;P;P;D;P	0.72338	0.977;0.903;0.888;0.958;0.844	D	0.98920	1.0783	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	270;269;270;270;270	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	H	270;270;270;270;270;269	ENSP00000375921:R270H;ENSP00000342092:R270H;ENSP00000343052:R270H;ENSP00000375922:R270H;ENSP00000338767:R270H;ENSP00000386750:R269H	ENSP00000338767:R270H	R	-	2	0	PAX3	222794334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.813000	0.96785	0.561000	0.74099	CGC	-	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1		0.423	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	protein_coding	OTTHUMT00000328670.1	C			222794334	-1	no_errors	NM_181459.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ENPEP	2028	genome.wustl.edu	37	4	111397708	111397708	+	Silent	SNP	C	C	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr4:111397708C>T	ENST00000265162.5	+	1	480	c.138C>T	c.(136-138)agC>agT	p.S46S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	46					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTGACTCCAGCGGGGACGGCG	0.632																																						dbGAP											0			4											161.0	154.0	157.0					4																	111397708		2203	4300	6503	111617157	SO:0001819	synonymous_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.138C>T	4.37:g.111397708C>T		57	14.93	10		NA	NA	NA	111617157	117	47.32	106	Q504U2	Silent	SNP	"HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain"	p.S46	ENST00000265162.5	37	c.138	CCDS3691.1	4																																																																																			-	NULL		0.632	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	protein_coding	OTTHUMT00000255747.2	C			111617157	+1	no_errors	NM_001977.3	genbank	human	validated	54_36p	silent	SNP	0.000	T
GPM6A	2823	genome.wustl.edu	37	4	176573082	176573082	+	Silent	SNP	G	G	A			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr4:176573082G>A	ENST00000280187.7	-	5	489	c.444C>T	c.(442-444)acC>acT	p.T148T	GPM6A_ENST00000515090.1_Silent_p.T141T|GPM6A_ENST00000506894.1_Silent_p.T137T|GPM6A_ENST00000393658.2_Silent_p.T148T	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	148					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTGGCAGTGAGGTGAAAGCCG	0.448																																						dbGAP											0			4											107.0	94.0	98.0					4																	176573082		2203	4300	6503	176810076	SO:0001819	synonymous_variant	0				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.444C>T	4.37:g.176573082G>A		14	0.00	0		NA	NA	NA	176810076	56	46.23	49	B7Z642|E9PHI5|Q92602	Silent	SNP	HMMPfam_Myelin_PLP,HMMSmart_SM00002,PatternScan_MYELIN_PLP_1,PatternScan_MYELIN_PLP_2	p.T148	ENST00000280187.7	37	c.444	CCDS3824.1	4																																																																																			-	HMMPfam_Myelin_PLP		0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	protein_coding	OTTHUMT00000362163.1	G			176810076	-1	no_errors	NM_005277.3	genbank	human	validated	54_36p	silent	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160025800	160025800	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr5:160025800A>G	ENST00000327245.5	-	22	4387	c.3541T>C	c.(3541-3543)Tac>Cac	p.Y1181H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1181					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTCTTGTATAGCTCAGGC	0.498																																						dbGAP											0			5											268.0	254.0	259.0					5																	160025800		1938	4131	6069	159958378	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3541T>C	5.37:g.160025800A>G	ENSP00000313600:p.Tyr1181His	57	5.00	3		NA	NA	NA	159958378	181	38.89	119	Q9H725	Missense_Mutation	SNP	HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.Y1181H	ENST00000327245.5	37	c.3541	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732887	0.89482	.	.	ENSG00000118322	ENST00000327245	T	0.75938	-0.98	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92933	0.6365	9	.	.	.	.	14.8727	0.70471	1.0:0.0:0.0:0.0	.	1181	O94823	AT10B_HUMAN	H	1181	ENSP00000313600:Y1181H	.	Y	-	1	0	ATP10B	159958378	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	9.228000	0.95250	2.107000	0.64212	0.533000	0.62120	TAC	-	NULL		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	A	NM_025153		159958378	-1	no_errors	NM_025153.2	genbank	human	validated	54_36p	missense	SNP	0.993	G
RPL7P20	728843	genome.wustl.edu	37	5	165456283	165456283	+	IGR	SNP	C	C	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr5:165456283C>T								CTC-535M15.2 (250589 upstream) : RP11-67M9.1 (99219 downstream)																							TCTGGCACAGCAGGAAACTTC	0.418																																						dbGAP											0			5																																								165388861	SO:0001628	intergenic_variant	0																															5.37:g.165456283C>T		91	8.08	8		NA	NA	NA	165388861	148	45.32	126		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.418					LOC728843			C			165388861	-1	pseudogene	XR_015391.1	genbank	human	model	54_36p	rna	SNP	0.997	T
ANKRD19P	138649	genome.wustl.edu	37	9	95647547	95647547	+	RNA	SNP	A	A	G			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr9:95647547A>G	ENST00000446878.1	+	0	826				ANKRD19P_ENST00000473204.1_RNA																							CCCCTGTGGGACTCCACTCTG	0.572																																						dbGAP											0			9																																								94687368			0																															9.37:g.95647547A>G		73	5.13	4		NA	NA	NA	94687368	148	34.06	78		RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			-	-		0.572	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	LOC642943	pseudogene	OTTHUMT00000316907.1	A			94687368	+1	pseudogene	XR_039168.1	genbank	human	model	54_36p	rna	SNP	0.127	G
C5	727	genome.wustl.edu	37	9	123732523	123732523	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr9:123732523T>G	ENST00000223642.1	-	32	4116	c.4087A>C	c.(4087-4089)Act>Cct	p.T1363P		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1363					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGAACTACAGTTGTTACCTAC	0.403																																						dbGAP											0			9											109.0	100.0	103.0					9																	123732523		2203	4300	6503	122772344	SO:0001583	missense	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4087A>C	9.37:g.123732523T>G	ENSP00000223642:p.Thr1363Pro	113	7.38	9		3	40.00	2	122772344	288	41.45	206	Q14CJ0|Q27I61	Missense_Mutation	SNP	HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terp_cyc_toroid,HMMPfam_A2M_recep,superfamily_AM_receptor_bind,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylatoxin,HMMPfam_NTR,HMMSmart_C345C,PatternScan_ALPHA_2_MACROGLOBULIN	p.T1363P	ENST00000223642.1	37	c.4087	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557552	0.65425	.	.	ENSG00000106804	ENST00000223642	T	0.36157	1.27	5.42	5.42	0.78866	.	1.138310	0.06440	N	0.725847	T	0.59432	0.2193	M	0.69358	2.11	0.39109	D	0.961445	D	0.76494	0.999	D	0.63597	0.916	T	0.36529	-0.9744	10	0.46703	T	0.11	.	12.8299	0.57740	0.0:0.0:0.0:1.0	.	1363	P01031	CO5_HUMAN	P	1363	ENSP00000223642:T1363P	ENSP00000223642:T1363P	T	-	1	0	C5	122772344	1.000000	0.71417	0.302000	0.25058	0.897000	0.52465	4.667000	0.61561	2.055000	0.61198	0.533000	0.62120	ACT	-	NULL		0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	protein_coding	OTTHUMT00000053844.1	T	NM_001735		122772344	-1	no_errors	NM_001735.2	genbank	human	reviewed	54_36p	missense	SNP	0.204	G
CDH23	64072	genome.wustl.edu	37	10	73461781	73461781	+	Silent	SNP	G	G	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr10:73461781G>T	ENST00000224721.6	+	22	2420	c.2415G>T	c.(2413-2415)gtG>gtT	p.V805V	CDH23_ENST00000299366.7_Silent_p.V845V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	800	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGGGCAGGTGGTGGCTGTTG	0.637																																						dbGAP											0			10											52.0	63.0	60.0					10																	73461781		2085	4197	6282	73131787	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2415G>T	10.37:g.73461781G>T		13	7.14	1		2	33.33	1	73131787	32	26.67	12	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.V800	ENST00000224721.6	37	c.2400		10																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73131787	+1	no_errors	NM_022124.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
SEMA6D	80031	genome.wustl.edu	37	15	48056059	48056059	+	Missense_Mutation	SNP	C	C	T	rs543020539		TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr15:48056059C>T	ENST00000316364.5	+	10	1199	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SEMA6D_ENST00000355997.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R254C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R254C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R254C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTGTATTCCCGCGTGGCCCG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19135	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			15											132.0	131.0	131.0					15																	48056059		2198	4297	6495	45843351	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.760C>T	15.37:g.48056059C>T	ENSP00000324857:p.Arg254Cys	213	3.62	8		NA	NA	NA	45843351	296	37.03	177	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat	p.R254C	ENST00000316364.5	37	c.760	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559209	0.86335	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	H	0.96916	3.905	0.80722	D	1	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;1.0;1.0;1.0	T	0.81219	-0.1032	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	254;254;254;254;254	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	254	ENSP00000442040:R254C;ENSP00000446152:R254C;ENSP00000324857:R254C;ENSP00000374084:R254C;ENSP00000374083:R254C;ENSP00000346786:R254C;ENSP00000350770:R254C;ENSP00000374079:R254C;ENSP00000348276:R254C;ENSP00000374076:R254C	ENSP00000324857:R254C	R	+	1	0	SEMA6D	45843351	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.809000	0.55606	2.785000	0.95823	0.655000	0.94253	CGC	-	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	C	NM_024966		45843351	+1	no_errors	NM_153618.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NFKBIZ	64332	genome.wustl.edu	37	3	101576029	101576030	+	Splice_Site	INS	-	-	ACTTTTAGAAAGCTTTAATAACC	rs3217713|rs371844266	byFrequency	TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	-	-	-	ACTTTTAGAAAGCTTTAATAACC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr3:101576029_101576030insACTTTTAGAAAGCTTTAATAACC	ENST00000326172.5	+	10	2050		c.e10+2		NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta						inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AATGCAAAGGTACACCAGAGTT	0.465														4063	0.811302	0.9546	0.8012	5008	,	,		21934	0.6528		0.7704	False		,,,				2504	0.8303					dbGAP											0			3																																								103058720	SO:0001630	splice_region_variant	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1935+2->ACTTTTAGAAAGCTTTAATAACC	3.37:g.101576029_101576030insACTTTTAGAAAGCTTTAATAACC		NA	NA	NA		NA	NA	NA	103058719	NA	NA	NA	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Splice_Site	INS	-	e10+2	ENST00000326172.5	37	c.1935+2_1935+1	CCDS2946.1	3																																																																																			-	-		0.465	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	protein_coding	OTTHUMT00000353793.1	-	NM_031419	Intron	103058720	+1	no_errors	NM_031419.1	genbank	human	reviewed	54_36p	splice_site_ins	INS	0.997:0.000	ACTTTTAGAAAGCTTTAATAACC
NPM1	4869	genome.wustl.edu	37	5	170837544	170837545	+	Frame_Shift_Ins	INS	-	-	CTGC			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	-	-	-	CTGC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr5:170837544_170837545insCTGC	ENST00000296930.5	+	11	1161_1162	c.860_861insCTGC	c.(859-864)ctctggfs	p.W288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.W288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.W259fs	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(11)|p.W288fs*>9(7)|p.L287fs*11(2)|p.L287F(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)			ATTCAAGATCTCTGGCAGTGGA	0.317			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	21	Insertion - Frameshift(20)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(21)	5																																								170770150	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.170837544_170837545insCTGC	ENSP00000296930:p.Trp288fs	NA	NA	NA		NA	NA	NA	170770149	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.860_861	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770150	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CTGC
FLT3	2322	genome.wustl.edu	37	13	28608253	28608254	+	In_Frame_Ins	INS	-	-	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	rs373985398		TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	-	-	-	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr13:28608253_28608254insGATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	ENST00000241453.7	-	14	1883_1884	c.1802_1803insTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGAGAATATGAATATGATC	c.(1801-1803)ctc>ctTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGAGAATATGAATATGATCc	p.601_602insQMGVSKRKFRVWRI*I*S	FLT3_ENST00000380982.4_In_Frame_Ins_p.601_602insQMGVSKRKFRVWRI*I*S|FLT3_ENST00000537084.1_In_Frame_Ins_p.601_602insQMGVSKRKFRVWRI*I*S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	601					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.L601_K602ins27(4)|p.D600_L601>HVDFREYEYD(2)|p.L601_K602ins24(1)|p.L601_K602ins21(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.L601_K602insREYEYDL(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)	ACTCCCATTTGAGATCATATTC	0.366			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	11	Insertion - In frame(7)|Complex - insertion inframe(4)	haematopoietic_and_lymphoid_tissue(11)	13																																								27506254	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.1802_1803insTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGAGAATATGAATATGATC	13.37:g.28608253_28608254insGATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	ENSP00000241453:p.Leu601_Lys602insGlnMetGlyValSerLysArgLysPheArgValTrpArgIle*Ile*Ser	NA	NA	NA		NA	NA	NA	27506253	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.602in_frame_insQMGVSKRKFRVWRI*I*S	ENST00000241453.7	37	c.1803_1802	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506254	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.998:1.000	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA
