#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
GALNT2	2590	genome.wustl.edu	37	1	230415050	230415050	+	Splice_Site	SNP	A	A	C			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr1:230415050A>C	ENST00000366672.4	+	16	1634	c.1562A>C	c.(1561-1563)aAa>aCa	p.K521T	GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Splice_Site_p.K483T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	521	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTCTTGCAGAAATGGGAACAG	0.547																																						dbGAP											0			1											56.0	52.0	53.0					1																	230415050		2203	4300	6503	228481673	SO:0001630	splice_region_variant	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1561-1A>C	1.37:g.230415050A>C		Somatic	36	5.26	2		48	42.17	35	WXS	Illumina HiSeq	Phase_IV	228481673	91	39.87	61	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.K521T	ENST00000366672.4	37	c.1562	CCDS1582.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425087	0.83667	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.31769	1.48;1.48	5.45	5.45	0.79879	Ricin B-related lectin (1);Ricin B lectin (3);	0.043579	0.85682	D	0.000000	T	0.51958	0.1705	M	0.68728	2.09	0.80722	D	1	D;D	0.62365	0.991;0.976	D;P	0.72338	0.977;0.907	T	0.45571	-0.9252	10	0.23302	T	0.38	.	15.5034	0.75719	1.0:0.0:0.0:0.0	.	521;483	Q10471;G3V1S6	GALT2_HUMAN;.	T	483;521	ENSP00000445017:K483T;ENSP00000355632:K521T	ENSP00000355632:K521T	K	+	2	0	GALNT2	228481673	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.284000	0.95882	2.082000	0.62665	0.402000	0.26972	AAA	-	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins		0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	protein_coding	OTTHUMT00000092158.1	A	NM_004481	Missense_Mutation	228481673	+1	no_errors	NM_004481.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MFSD6	54842	genome.wustl.edu	37	2	191300983	191300983	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr2:191300983T>G	ENST00000392328.1	+	3	552	c.228T>G	c.(226-228)ttT>ttG	p.F76L	MFSD6_ENST00000281416.7_Missense_Mutation_p.F76L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	76					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCTTTTATTTTTTCTTTTACT	0.398																																						dbGAP											0			2											81.0	89.0	86.0					2																	191300983		2203	4300	6503	191009228	SO:0001583	missense	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.228T>G	2.37:g.191300983T>G	ENSP00000376141:p.Phe76Leu	Somatic	99	0.00	0		25	52.73	29	WXS	Illumina HiSeq	Phase_IV	191009228	161	38.40	101	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.F76L	ENST00000392328.1	37	c.228	CCDS2306.1	2	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981625	0.53827	.	.	ENSG00000151690	ENST00000432036;ENST00000392328;ENST00000445546;ENST00000281416	D;D	0.82167	-1.58;-1.58	5.49	1.75	0.24633	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	L	0.45352	1.415	0.80722	D	1	D	0.55605	0.972	P	0.59948	0.866	T	0.78388	-0.2223	10	0.39692	T	0.17	-26.8628	8.287	0.31935	0.0:0.2983:0.0:0.7017	.	76	Q6ZSS7	MFSD6_HUMAN	L	76	ENSP00000376141:F76L;ENSP00000281416:F76L	ENSP00000281416:F76L	F	+	3	2	MFSD6	191009228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.532000	0.36029	0.147000	0.19030	0.528000	0.53228	TTT	-	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter		0.398	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	protein_coding	OTTHUMT00000255931.1	T			191009228	+1	no_errors	NM_017694.3	genbank	human	validated	54_36p	missense	SNP	1.000	G
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	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	33	0.00	0		81	34.15	42	WXS	Illumina HiSeq	Phase_IV	208821358	93	36.67	55	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
ATG16L1	55054	genome.wustl.edu	37	2	234201946	234201946	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr2:234201946T>A	ENST00000392017.4	+	17	1930	c.1673T>A	c.(1672-1674)cTg>cAg	p.L558Q	ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379Q|ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575Q|ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395Q|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539Q	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	558					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GAGGGCTCTCTGTATATCTGG	0.512																																						dbGAP											0			2											135.0	126.0	129.0					2																	234201946		2203	4300	6503	233866685	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1673T>A	2.37:g.234201946T>A	ENSP00000375872:p.Leu558Gln	Somatic	262	0.00	0		23	30.30	10	WXS	Illumina HiSeq	Phase_IV	233866685	483	36.46	280	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.L558Q	ENST00000392017.4	37	c.1673	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773393	0.69992	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.5	5.5	0.81552	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	0.80829	0.4698	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	0.994;1.0;0.998;1.0;0.997	D	0.84074	0.0381	10	0.87932	D	0	.	15.6101	0.76710	0.0:0.0:0.0:1.0	.	512;539;379;558;395	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	Q	558;395;379;539;575;217	ENSP00000375872:L558Q;ENSP00000318259:L395Q;ENSP00000362625:L379Q;ENSP00000375875:L539Q;ENSP00000375873:L575Q	ENSP00000334016:L217Q	L	+	2	0	ATG16L1	233866685	1.000000	0.71417	0.144000	0.22314	0.503000	0.33858	7.459000	0.80802	2.085000	0.62840	0.482000	0.46254	CTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.512	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	protein_coding	OTTHUMT00000257069.2	T	NM_017974		233866685	+1	no_errors	NM_030803.3	genbank	human	validated	54_36p	missense	SNP	0.994	A
BOD1L1	259282	genome.wustl.edu	37	4	13615843	13615843	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr4:13615843T>C	ENST00000040738.5	-	4	1286	c.1151A>G	c.(1150-1152)aAa>aGa	p.K384R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	384	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTCAACAGTTTTAGCTTTATT	0.318																																						dbGAP											0			4											43.0	39.0	41.0					4																	13615843		2107	4075	6182	13224941	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1151A>G	4.37:g.13615843T>C	ENSP00000040738:p.Lys384Arg	Somatic	74	0.00	0		30	55.22	37	WXS	Illumina HiSeq	Phase_IV	13224941	154	36.59	90	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF81995	p.K384R	ENST00000040738.5	37	c.1151	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	6.335	0.429862	0.11987	.	.	ENSG00000038219	ENST00000040738	T	0.09073	3.02	5.45	1.77	0.24775	.	0.286026	0.25148	N	0.032773	T	0.06416	0.0165	L	0.35414	1.06	0.09310	N	1	B	0.25390	0.125	B	0.20184	0.028	T	0.31024	-0.9958	10	0.42905	T	0.14	-14.3537	8.7726	0.34742	0.0:0.217:0.0:0.783	.	384	Q8NFC6	BOD1L_HUMAN	R	384	ENSP00000040738:K384R	ENSP00000040738:K384R	K	-	2	0	BOD1L	13224941	0.439000	0.25610	0.005000	0.12908	0.091000	0.18340	1.323000	0.33701	0.464000	0.27142	0.482000	0.46254	AAA	-	superfamily_SSF81995		0.318	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L	protein_coding	OTTHUMT00000207321.1	T	NM_148894		13224941	-1	no_errors	NM_148894.2	genbank	human	validated	54_36p	missense	SNP	0.002	C
FAT2	2196	genome.wustl.edu	37	5	150928964	150928964	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr5:150928964C>T	ENST00000261800.5	-	8	4693	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1561	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTTGCCTCATAATGGAGC	0.567																																						dbGAP											0			5											77.0	69.0	72.0					5																	150928964		2203	4300	6503	150909157	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4681G>A	5.37:g.150928964C>T	ENSP00000261800:p.Glu1561Lys	Somatic	27	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	150909157	91	44.51	73	O75091|Q9NSR7	Missense_Mutation	SNP	HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,superfamily_EGF/Laminin	p.E1561K	ENST00000261800.5	37	c.4681	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709688	0.48517	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000010	T	0.61874	0.2382	L	0.38692	1.165	0.47778	D	0.999511	D	0.71674	0.998	D	0.71870	0.975	T	0.54794	-0.8240	10	0.13108	T	0.6	.	12.4006	0.55410	0.0:0.9178:0.0:0.0822	.	1561	Q9NYQ8	FAT2_HUMAN	K	1561	ENSP00000261800:E1561K	ENSP00000261800:E1561K	E	-	1	0	FAT2	150909157	0.998000	0.40836	0.994000	0.49952	0.140000	0.21249	3.629000	0.54266	2.289000	0.77006	0.561000	0.74099	GAG	-	HMMPfam_Cadherin,superfamily_Cadherin-like		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150909157	-1	no_errors	NM_001447.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SYNGAP1	8831	genome.wustl.edu	37	6	33409387	33409387	+	Silent	SNP	C	C	T			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr6:33409387C>T	ENST00000418600.2	+	13	2246	c.2145C>T	c.(2143-2145)ccC>ccT	p.P715P	SYNGAP1_ENST00000428982.2_Silent_p.P656P|SYNGAP1_ENST00000293748.5_Silent_p.P715P|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	715					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTCCACTGCCCCGGCTCCTCA	0.642																																						dbGAP											0			6											40.0	40.0	40.0					6																	33409387		2202	4300	6502	33517365	SO:0001819	synonymous_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2145C>T	6.37:g.33409387C>T		Somatic	257	0.39	1		19	57.78	26	WXS	Illumina HiSeq	Phase_IV	33517365	201	37.12	121	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like	p.P700	ENST00000418600.2	37	c.2100	CCDS34434.2	6																																																																																			-	HMMSmart_SM00323,superfamily_GTPase activation domain GAP		0.642	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407		33517365	+1	no_errors	NM_006772.2	genbank	human	validated	54_36p	silent	SNP	0.996	T
RUNX1T1	862	genome.wustl.edu	37	8	93026825	93026825	+	Silent	SNP	G	G	A			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr8:93026825G>A	ENST00000523629.1	-	4	904	c.450C>T	c.(448-450)acC>acT	p.T150T	RUNX1T1_ENST00000360348.2_Silent_p.T113T|RUNX1T1_ENST00000265814.3_Silent_p.T150T|RUNX1T1_ENST00000436581.2_Silent_p.T161T|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000518844.1_Silent_p.T123T|RUNX1T1_ENST00000396218.1_Silent_p.T123T|RUNX1T1_ENST00000521553.1_Silent_p.T113T|RUNX1T1_ENST00000422361.2_Silent_p.T113T|RUNX1T1_ENST00000520724.1_Silent_p.T113T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	150	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCAGAACGAGGGTGCGAACTC	0.502																																						dbGAP											0			8											120.0	112.0	115.0					8																	93026825		2203	4300	6503	93096001	SO:0001819	synonymous_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.450C>T	8.37:g.93026825G>A		Somatic	184	0.00	0		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	93096001	348	33.46	176	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2	p.T150	ENST00000523629.1	37	c.450	CCDS6256.1	8																																																																																			-	HMMPfam_TAFH,HMMSmart_SM00549		0.502	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93096001	-1	no_errors	NM_175634.2	genbank	human	reviewed	54_36p	silent	SNP	0.845	A
R3HCC1L	27291	genome.wustl.edu	37	10	99968695	99968695	+	Missense_Mutation	SNP	G	G	A	rs573075515		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr10:99968695G>A	ENST00000298999.3	+	5	1127	c.824G>A	c.(823-825)gGt>gAt	p.G275D	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.G275D|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	275							nucleotide binding (GO:0000166)										AGTCCAGATGGTGTCTTTGAT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		22596	0.0		0.0	False		,,,				2504	0.001					dbGAP											0			10											110.0	104.0	106.0					10																	99968695		2203	4300	6503	99958685	SO:0001583	missense	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.824G>A	10.37:g.99968695G>A	ENSP00000298999:p.Gly275Asp	Somatic	110	0.00	0		15	37.50	9	WXS	Illumina HiSeq	Phase_IV	99958685	158	32.20	76	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.G275D	ENST00000298999.3	37	c.824	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.698394	0.00725	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.06068	3.35;3.35	5.56	-3.32	0.04973	.	1.088930	0.06964	N	0.816800	T	0.05456	0.0144	L	0.46741	1.465	0.09310	N	0.999996	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.006	T	0.45644	-0.9247	9	.	.	.	-0.0095	3.5728	0.07923	0.3642:0.0:0.2409:0.3949	.	275;275	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	D	275	ENSP00000359616:G275D;ENSP00000298999:G275D	.	G	+	2	0	C10orf28	99958685	0.000000	0.05858	0.012000	0.15200	0.093000	0.18481	-0.148000	0.10219	-0.369000	0.08028	-0.136000	0.14681	GGT	-	NULL		0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C10orf28	protein_coding	OTTHUMT00000049764.1	G	NM_014472		99958685	+1	no_errors	NM_014472.4	genbank	human	validated	54_36p	missense	SNP	0.015	A
OR8H2	390151	genome.wustl.edu	37	11	55873034	55873034	+	Silent	SNP	C	C	T			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr11:55873034C>T	ENST00000313503.1	+	1	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)																												dbGAP											0			11											268.0	242.0	251.0					11																	55873034		2201	4296	6497	55629610	SO:0001819	synonymous_variant	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.516C>T	11.37:g.55873034C>T		Somatic	39	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	55629610	184	35.89	103	Q6IFC1	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.N172	ENST00000313503.1	37	c.516	CCDS31518.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	protein_coding	OTTHUMT00000391540.1	C	NM_001005200		55629610	+1	no_errors	NM_001005200.1	genbank	human	provisional	54_36p	silent	SNP	0.025	T
NTRK3	4916	genome.wustl.edu	37	15	88472471	88472471	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr15:88472471A>G	ENST00000360948.2	-	16	2245	c.2084T>C	c.(2083-2085)aTt>aCt	p.I695T	NTRK3_ENST00000357724.2_Missense_Mutation_p.I687T|NTRK3_ENST00000558676.1_Missense_Mutation_p.I687T|NTRK3_ENST00000542733.2_Missense_Mutation_p.I597T|NTRK3_ENST00000394480.2_Missense_Mutation_p.I695T|NTRK3_ENST00000355254.2_Missense_Mutation_p.I695T|NTRK3_ENST00000557856.1_Missense_Mutation_p.I687T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGTCCCCAATCTTCACTAG	0.562			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0			15											110.0	102.0	105.0					15																	88472471		2201	4299	6500	86273475	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2084T>C	15.37:g.88472471A>G	ENSP00000354207:p.Ile695Thr	Somatic	128	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	86273475	163	35.38	92	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_LRR_1,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin,superfamily_L domain-like	p.I695T	ENST00000360948.2	37	c.2084	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265186	0.80358	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;0.996;0.998	D;D;D;D;D	0.87578	0.998;0.994;0.991;0.99;0.991	D	0.99004	1.0812	10	0.87932	D	0	.	14.1992	0.65690	1.0:0.0:0.0:0.0	.	597;687;687;695;695	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	T	695;695;687;695;597	ENSP00000377990:I695T;ENSP00000354207:I695T;ENSP00000350356:I687T;ENSP00000347397:I695T;ENSP00000437773:I597T	ENSP00000347397:I695T	I	-	2	0	NTRK3	86273475	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.118000	0.94355	1.952000	0.56665	0.533000	0.62120	ATT	-	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	protein_coding		A			86273475	-1	no_errors	NM_001012338.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
IDH2	3418	genome.wustl.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	15											85.0	81.0	82.0					15																	90631838		2200	4298	6498	88432842	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys	Somatic	40	0.00	0		169	11.05	21	WXS	Illumina HiSeq	Phase_IV	88432842	144	11.11	18	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R172K	ENST00000330062.3	37	c.515	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432842	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ASXL1	171023	genome.wustl.edu	37	20	31022712	31022712	+	Nonsense_Mutation	SNP	C	C	T	rs387907078		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr20:31022712C>T	ENST00000375687.4	+	13	2621	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q728*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	733					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCCTACTACAGAGGGCTAC	0.577			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											50.0	50.0	50.0					20																	31022712		2203	4300	6503	30486373	SO:0001587	stop_gained	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2197C>T	20.37:g.31022712C>T	ENSP00000364839:p.Gln733*	Somatic	8	0.00	0		47	42.68	35	WXS	Illumina HiSeq	Phase_IV	30486373	105	28.95	44	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.Q733*	ENST00000375687.4	37	c.2197	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.994763	0.97990	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.22	4.26	0.50523	.	0.879151	0.10075	N	0.719255	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.0256	8.2034	0.31438	0.3038:0.5382:0.158:0.0	.	.	.	.	X	733;733;733;654;728	.	ENSP00000305119:Q728X	Q	+	1	0	ASXL1	30486373	0.042000	0.20092	0.009000	0.14445	0.690000	0.40134	2.399000	0.44495	1.523000	0.49018	0.655000	0.94253	CAG	-	NULL		0.577	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	C	NM_015338		30486373	+1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	nonsense	SNP	0.002	T
RUNX1	861	genome.wustl.edu	37	21	36252994	36252995	+	Frame_Shift_Ins	INS	-	-	CC	rs373498347		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	-	-	-	CC	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr21:36252994_36252995insCC	ENST00000344691.4	-	2	1863_1864	c.286_287insGG	c.(286-288)gatfs	p.D96fs	RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.D96fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.D123fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.D123fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.D96fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.D99fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.D111fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	96	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ATCTGGAACATCCCCTAGGGCC	0.46			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0			21	GRCh37	CM086911	RUNX1	M																																				35174865	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.285_286dupGG	21.37:g.36252997_36252998dupCC	ENSP00000340690:p.Asp96fs	Somatic	35	0.00	0		144	33.94	74	WXS	Illumina HiSeq	Phase_IV	35174864	68	29.90	29	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.D123fs	ENST00000344691.4	37	c.368_367	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.460	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	-			35174865	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.999:1.000	CC
U2AF1	7307	genome.wustl.edu	37	21	44514777	44514777	+	Missense_Mutation	SNP	T	T	G	rs371246226		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr21:44514777T>G	ENST00000291552.4	-	6	562	c.470A>C	c.(469-471)cAg>cCg	p.Q157P	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.Q157P|U2AF1_ENST00000398137.1_Missense_Mutation_p.Q84P|U2AF1_ENST00000459639.1_Missense_Mutation_p.Q84P	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	157					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q157P(11)|p.Q157R(5)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTCATACTGACGGCAGCA	0.552			Mis		"""CLL, MDS"""																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	16	Substitution - Missense(16)	haematopoietic_and_lymphoid_tissue(16)	21											83.0	61.0	68.0					21																	44514777		2203	4300	6503	43387846	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.470A>C	21.37:g.44514777T>G	ENSP00000291552:p.Gln157Pro	Somatic	22	0.00	0		35	57.83	48	WXS	Illumina HiSeq	Phase_IV	43387846	69	43.55	54	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.Q157P	ENST00000291552.4	37	c.470	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601724	0.87055	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.01	5.01	0.66863	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.94101	3.495	0.80722	D	1	B;P	0.40066	0.413;0.701	P;P	0.53912	0.531;0.737	T	0.77456	-0.2581	10	0.87932	D	0	-33.6694	15.0099	0.71542	0.0:0.0:0.0:1.0	.	157;157	Q01081;Q701P4	U2AF1_HUMAN;.	P	84;157;157;84	ENSP00000418705:Q84P;ENSP00000369629:Q157P;ENSP00000291552:Q157P;ENSP00000381205:Q84P	ENSP00000291552:Q157P	Q	-	2	0	U2AF1	43387846	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.190000	0.77755	2.003000	0.58678	0.533000	0.62120	CAG	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.552	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	T	NM_006758		43387846	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
