#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	G			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	T	T	T	G	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chrUnknown:0T>G								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								12256	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>G		Somatic	2884	0.89	26		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	12256	1398	48.56	1350		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210184			T			12256	+1	no_errors	ENST00000387449	ensembl	human	novel	54_36p	rna	SNP	NULL	G
MAP7D2	256714	genome.wustl.edu	37	X	20033425	20033425	+	Silent	SNP	C	C	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chrX:20033425C>T	ENST00000379651.3	-	11	1560	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	MAP7D2_ENST00000452324.3_Silent_p.K462K|MAP7D2_ENST00000379643.5_Silent_p.K555K|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Silent_p.K399K|MAP7D2_ENST00000443379.3_Silent_p.K469K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	514					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCTCCCGGGCCTTTGTTTCTG	0.458																																						dbGAP											0			X											131.0	105.0	114.0					X																	20033425		2203	4300	6503	19943346	SO:0001819	synonymous_variant	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1542G>A	X.37:g.20033425C>T		Somatic	130	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	19943346	141	45.35	117	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	HMMPfam_MAP7	p.K514	ENST00000379651.3	37	c.1542	CCDS14195.1	X																																																																																			-	HMMPfam_MAP7		0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	protein_coding	OTTHUMT00000056001.1	C	NM_152780		19943346	-1	no_errors	NM_152780.2	genbank	human	provisional	54_36p	silent	SNP	0.996	T
RBBP4	5928	genome.wustl.edu	37	1	33138072	33138072	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr1:33138072G>A	ENST00000373493.5	+	9	1147	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RBBP4_ENST00000414241.3_Missense_Mutation_p.E329K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E295K|RBBP4_ENST00000544435.1_Missense_Mutation_p.E78K|RBBP4_ENST00000373485.1_Missense_Mutation_p.E330K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	330					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACCTCACAATGAGACTATTTT	0.333																																						dbGAP											0			1											89.0	83.0	85.0					1																	33138072		2203	4299	6502	32910659	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.988G>A	1.37:g.33138072G>A	ENSP00000362592:p.Glu330Lys	Somatic	153	0.00	0		68	22.73	20	WXS	Illumina HiSeq	Phase_IV	32910659	110	15.38	20	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.E330K	ENST00000373493.5	37	c.988	CCDS366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.681733|4.681733	0.88542|0.88542	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000463378	T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23|.	4.69|4.69	4.69|4.69	0.59074|0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67449|0.67449	0.2894|0.2894	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	P;P|.	0.38551|.	0.555;0.636|.	B;P|.	0.46585|.	0.218;0.521|.	T|T	0.65134|0.65134	-0.6242|-0.6242	10|5	0.51188|.	T|.	0.08|.	.|.	16.9891|16.9891	0.86348|0.86348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;330|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	K|I	329;330;78;330;295;68|89	ENSP00000398242:E329K;ENSP00000362592:E330K;ENSP00000442384:E78K;ENSP00000362584:E330K;ENSP00000396057:E295K;ENSP00000436565:E68K|.	ENSP00000362584:E330K|.	E|M	+|+	1|3	0|0	RBBP4|RBBP4	32910659|32910659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.736000|9.736000	0.98828|0.98828	2.339000|2.339000	0.79563|0.79563	0.467000|0.467000	0.42956|0.42956	GAG|ATG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.333	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	protein_coding	OTTHUMT00000021957.3	G	NM_005610		32910659	+1	no_errors	NM_005610.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MYBPHL	343263	genome.wustl.edu	37	1	109839466	109839466	+	Silent	SNP	G	G	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr1:109839466G>A	ENST00000357155.1	-	5	718	c.669C>T	c.(667-669)aaC>aaT	p.N223N	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	223	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTCCGCACTGGTTTTCAGCAA	0.552																																						dbGAP											0			1											155.0	120.0	132.0					1																	109839466		2203	4300	6503	109640989	SO:0001819	synonymous_variant	0			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.669C>T	1.37:g.109839466G>A		Somatic	120	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	109640989	82	49.42	85	B7ZME5|Q5T2Z7	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin	p.N223	ENST00000357155.1	37	c.669	CCDS30793.1	1																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	protein_coding	OTTHUMT00000033197.1	G	NM_001010985		109640989	-1	no_errors	NM_001010985.2	genbank	human	validated	54_36p	silent	SNP	0.996	A
DNMT3A	1788	genome.wustl.edu	37	2	25468186	25468186	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr2:25468186C>T	ENST00000264709.3	-	13	1827	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C274Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C308Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C497Y|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	497	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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)					GAGGCTCCCACAGGAGATGCA	0.617			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											83.0	82.0	82.0					2																	25468186		2203	4300	6503	25321690	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1490G>A	2.37:g.25468186C>T	ENSP00000264709:p.Cys497Tyr	Somatic	23	0.00	0		15	76.56	49	WXS	Illumina HiSeq	Phase_IV	25321690	17	60.47	26	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.C497Y	ENST00000264709.3	37	c.1490	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461072	0.84317	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65784	-0.6084	10	0.87932	D	0	-3.3863	16.4462	0.83935	0.0:1.0:0.0:0.0	.	497;308	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Y	308;497;497;274	ENSP00000370122:C308Y;ENSP00000324375:C497Y;ENSP00000264709:C497Y;ENSP00000384237:C274Y	ENSP00000264709:C497Y	C	-	2	0	DNMT3A	25321690	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.521000	0.81832	2.735000	0.93741	0.655000	0.94253	TGT	-	NULL		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25321690	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RIF1	55183	genome.wustl.edu	37	2	152319466	152319466	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr2:152319466T>A	ENST00000243326.5	+	29	3915	c.3432T>A	c.(3430-3432)caT>caA	p.H1144Q	RIF1_ENST00000428287.2_Missense_Mutation_p.H1144Q|RIF1_ENST00000430328.2_Missense_Mutation_p.H1144Q|RIF1_ENST00000444746.2_Missense_Mutation_p.H1144Q|RIF1_ENST00000453091.2_Missense_Mutation_p.H1144Q			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGCTGAACATCTTGAAAAGT	0.373																																						dbGAP											0			2											67.0	63.0	64.0					2																	152319466		2203	4300	6503	152027712	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3432T>A	2.37:g.152319466T>A	ENSP00000243326:p.His1144Gln	Somatic	60	1.64	1		33	51.47	35	WXS	Illumina HiSeq	Phase_IV	152027712	69	52.67	79	A0AVS0|Q9NS16	Missense_Mutation	SNP	superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1	p.H1144Q	ENST00000243326.5	37	c.3432	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	T	5.755	0.323689	0.10900	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	5.21	4.04	0.47022	.	0.691299	0.15046	N	0.283570	T	0.09423	0.0232	L	0.50919	1.6	0.41861	D	0.990221	P;P	0.40000	0.698;0.646	B;B	0.36030	0.11;0.216	T	0.21484	-1.0244	10	0.14656	T	0.56	-4.8077	8.2307	0.31597	0.0:0.1574:0.0:0.8426	.	1144;1144	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Q	1144	ENSP00000390181:H1144Q;ENSP00000414615:H1144Q;ENSP00000415691:H1144Q;ENSP00000243326:H1144Q;ENSP00000416123:H1144Q	ENSP00000243326:H1144Q	H	+	3	2	RIF1	152027712	0.912000	0.30974	0.634000	0.29324	0.155000	0.21991	1.890000	0.39728	0.808000	0.34231	0.383000	0.25322	CAT	-	superfamily_ARM repeat		0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	protein_coding	OTTHUMT00000254836.3	T			152027712	+1	no_errors	NM_018151.3	genbank	human	validated	54_36p	missense	SNP	0.057	A
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	Somatic	43	0.00	0		34	52.78	38	WXS	Illumina HiSeq	Phase_IV	208821358	64	42.98	49	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
UBP1	7342	genome.wustl.edu	37	3	33450276	33450276	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr3:33450276G>T	ENST00000283629.3	-	8	1362	c.833C>A	c.(832-834)cCt>cAt	p.P278H	UBP1_ENST00000447368.2_Intron|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000283628.5_Missense_Mutation_p.P278H	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	278					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TTCAATTATAGGCTCAAGCCT	0.433																																						dbGAP											0			3											109.0	105.0	106.0					3																	33450276		2203	4300	6503	33425280	SO:0001583	missense	0			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.833C>A	3.37:g.33450276G>T	ENSP00000283629:p.Pro278His	Somatic	218	0.90	2		36	38.98	23	WXS	Illumina HiSeq	Phase_IV	33425280	169	47.40	155	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	HMMPfam_CP2,superfamily_SAM/Pointed domain	p.P278H	ENST00000283629.3	37	c.833	CCDS2659.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130634	0.77549	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.18338	2.22;2.22	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00795	-1.1563	10	0.44086	T	0.13	-11.5197	18.833	0.92148	0.0:0.0:1.0:0.0	.	278	Q9NZI7	UBIP1_HUMAN	H	278	ENSP00000283629:P278H;ENSP00000283628:P278H	ENSP00000283628:P278H	P	-	2	0	UBP1	33425280	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.855000	0.92236	2.890000	0.99128	0.585000	0.79938	CCT	-	NULL		0.433	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	protein_coding	OTTHUMT00000253249.2	G	NM_014517		33425280	-1	no_errors	NM_014517.1	genbank	human	validated	54_36p	missense	SNP	1.000	T
GRIK2	2898	genome.wustl.edu	37	6	102516280	102516280	+	Missense_Mutation	SNP	G	G	A	rs267600750		TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr6:102516280G>A	ENST00000421544.1	+	16	3111	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q	GRIK2_ENST00000369134.4_Missense_Mutation_p.R825Q|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R798Q|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	874					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCCAGCGTCGGTTAAAACAT	0.403																																						dbGAP											0			6											114.0	105.0	108.0					6																	102516280		2203	4300	6503	102622973	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2621G>A	6.37:g.102516280G>A	ENSP00000397026:p.Arg874Gln	Somatic	165	1.20	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	102622973	191	16.23	37	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II	p.R874Q	ENST00000421544.1	37	c.2621	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466109	0.84425	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.11169	2.8;3.02;2.81	5.79	5.79	0.91817	.	0.054969	0.85682	N	0.000000	T	0.07413	0.0187	L	0.54323	1.7	0.54753	D	0.999985	P	0.51351	0.944	B	0.38683	0.279	T	0.28490	-1.0042	10	0.30078	T	0.28	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	874	Q13002	GRIK2_HUMAN	Q	874;798;825	ENSP00000397026:R874Q;ENSP00000358133:R798Q;ENSP00000358130:R825Q	ENSP00000358130:R825Q	R	+	2	0	GRIK2	102622973	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.745000	0.94114	0.462000	0.41574	CGG	-	NULL		0.403	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	G			102622973	+1	no_errors	NM_021956.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13224490	13224490	+	Silent	SNP	C	C	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr9:13224490C>T	ENST00000319217.7	-	4	523	c.276G>A	c.(274-276)tcG>tcA	p.S92S	MPDZ_ENST00000541718.1_Silent_p.S92S|MPDZ_ENST00000381022.2_Silent_p.S92S|MPDZ_ENST00000546205.1_Silent_p.S92S|MPDZ_ENST00000381015.4_Silent_p.S92S|MPDZ_ENST00000447879.1_Silent_p.S92S|MPDZ_ENST00000536827.1_Silent_p.S92S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	92			S -> L (in dbSNP:rs17273542).		cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAATAAAAACGATTCATTTT	0.398																																						dbGAP											0			9											118.0	113.0	114.0					9																	13224490		1860	4094	5954	13214490	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.276G>A	9.37:g.13224490C>T		Somatic	127	0.78	1		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	13214490	130	40.37	88	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_L27_2,superfamily_L27 domain	p.S92	ENST00000319217.7	37	c.276		9																																																																																			-	NULL		0.398	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13214490	-1	no_errors	NM_003829.3	genbank	human	validated	54_36p	silent	SNP	0.705	T
WT1	7490	genome.wustl.edu	37	11	32413557	32413557	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr11:32413557G>A	ENST00000379079.2	-	9	1030	c.757C>T	c.(757-759)Cac>Tac	p.H253Y	WT1_ENST00000448076.3_Missense_Mutation_p.H465Y|WT1_ENST00000530998.1_Missense_Mutation_p.H236Y|WT1_ENST00000332351.3_Missense_Mutation_p.H465Y	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	397			G -> A (in WT1). {ECO:0000269|PubMed:9108089}.		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.V380_S410del(1)|p.H397D(1)|p.?fs(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)			GTCTTCAGGTGGTCGGACCGG	0.418			"""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	3	Substitution - Missense(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	11											196.0	194.0	194.0					11																	32413557		2202	4299	6501	32370133	SO:0001583	missense	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.757C>T	11.37:g.32413557G>A	ENSP00000368370:p.His253Tyr	Somatic	86	0.00	0		62	16.22	12	WXS	Illumina HiSeq	Phase_IV	32370133	119	25.47	41	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.H465Y	ENST00000379079.2	37	c.1393	CCDS55751.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.152265|5.152265	0.94645|0.94645	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076|ENST00000527882	T;T;T;T;T|.	0.60548|.	2.62;0.18;0.18;2.62;2.62|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.39147|0.39147	1.195|1.195	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.998;0.995|.	D;D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.998;0.997|.	T|T	0.60459|0.60459	-0.7259|-0.7259	10|5	0.59425|.	D|.	0.04|.	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453;397;470;236;253|.	P19544-8;P19544;P19544-7;B3KSA5;P19544-6|.	.;WT1_HUMAN;.;.;.|.	Y|L	253;465;236;448;465|125	ENSP00000368370:H253Y;ENSP00000331327:H465Y;ENSP00000435307:H236Y;ENSP00000415516:H448Y;ENSP00000413452:H465Y|.	ENSP00000331327:H465Y|.	H|P	-|-	1|2	0|0	WT1|WT1	32370133|32370133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.837000|9.837000	0.99465|0.99465	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CAC|CCA	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.418	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	G	NM_000378		32370133	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SUPT20H	55578	genome.wustl.edu	37	13	37591471	37591471	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr13:37591471G>C	ENST00000350612.6	-	23	2123	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	SUPT20H_ENST00000360252.4_Missense_Mutation_p.L636V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.L636V|SUPT20H_ENST00000475892.1_Missense_Mutation_p.L714V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L636V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	635					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGCTGCTGCAGAGTGTTAAAA	0.378																																						dbGAP											0			13											116.0	105.0	109.0					13																	37591471		2203	4300	6503	36489471	SO:0001583	missense	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1903C>G	13.37:g.37591471G>C	ENSP00000218894:p.Leu635Val	Somatic	115	0.86	1		46	51.06	48	WXS	Illumina HiSeq	Phase_IV	36489471	102	48.76	98	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	NULL	p.L635V	ENST00000350612.6	37	c.1903	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725289	0.30593	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	T;T;T;T;T	0.52295	0.72;0.67;1.31;0.72;0.72	5.66	4.82	0.62117	.	0.200442	0.33057	N	0.005337	T	0.35653	0.0939	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.13594	0.005;0.005;0.008;0.005	B;B;B;B	0.21360	0.015;0.015;0.034;0.015	T	0.14392	-1.0474	10	0.13108	T	0.6	-0.0409	6.5719	0.22543	0.15:0.0:0.7032:0.1467	.	714;636;636;635	E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;FA48A_HUMAN	V	636;714;635;636;635;636	ENSP00000353388:L636V;ENSP00000417510:L714V;ENSP00000218894:L635V;ENSP00000348512:L636V;ENSP00000419754:L636V	ENSP00000218894:L635V	L	-	1	2	FAM48A	36489471	1.000000	0.71417	0.961000	0.40146	0.949000	0.60115	2.865000	0.48412	1.429000	0.47314	0.644000	0.83932	CTG	-	NULL		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	protein_coding	OTTHUMT00000354766.1	G	NM_017569		36489471	-1	no_errors	NM_001014286.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
IGLV3-27	28791	genome.wustl.edu	37	22	23011172	23011172	+	RNA	SNP	C	C	T	rs550508994		TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr22:23011172C>T	ENST00000390304.2	+	0	273									immunoglobulin lambda variable 3-27																		GATCCCTGAGCGATTCTCCGG	0.562													.|||	1	0.000199681	0.0	0.0	5008	,	,		16320	0.001		0.0	False		,,,				2504	0.0					dbGAP											0			22											36.0	38.0	37.0					22																	23011172		1937	4128	6065	21341172			0			D86994		22q11.2	2012-02-08			ENSG00000211658	ENSG00000211658		"""Immunoglobulins / IGL locus"""	5910	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151171		22.37:g.23011172C>T		Somatic	25	3.85	1		20	0.00	0	WXS	Illumina HiSeq	Phase_IV	21341172	27	55.74	34		Nonsense_Mutation	SNP	HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin	p.R79*	ENST00000390304.2	37	c.235		22																																																																																			-	HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin		0.562	IGLV3-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV3-27	IG_V_gene	OTTHUMT00000321641.1	C	NG_000002		21341172	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390304	ensembl	human	known	54_36p	nonsense	SNP	0.399	T
NPM1	4869	genome.wustl.edu	37	5	170837543	170837544	+	Frame_Shift_Ins	INS	-	-	TCTG	rs17850940		TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr5:170837543_170837544insTCTG	ENST00000296930.5	+	11	1160_1161	c.859_860insTCTG	c.(859-861)ctcfs	p.-287fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.-287fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.-258fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						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(7)|p.W288fs*>9(5)|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)			TATTCAAGATCTCTGGCAGTGG	0.317			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	15	Insertion - Frameshift(14)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(15)	5																																								170770149	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	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Leu287fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170770148	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.859_860	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770149	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
