#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_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_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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
SLC4A8	9498	hgsc.bcm.edu;broad.mit.edu	37	12	51882579	51882579	+	Missense_Mutation	SNP	A	A	G	rs138940118		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr12:51882579A>G	ENST00000453097.2	+	18	2600	c.2383A>G	c.(2383-2385)Atc>Gtc	p.I795V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTCTGTACTATCTTGATATT	0.453																																																0								A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	120.0	100.0	107.0		2383,2383	4.3	1.0	12	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SLC4A8	NM_001039960.1,NM_004858.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	795/1094,795/1045	51882579	1,13005	2203	4300	6503	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2383A>G	12.37:g.51882579A>G	ENSP00000405812:p.Ile795Val			Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048654	0.75846	2.27E-4	0.0	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.83591	-1.74;-1.74	4.26	4.26	0.50523	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.84433	2.695	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.994	D;D;D	0.91635	0.966;0.999;0.998	D	0.92480	0.5992	10	0.87932	D	0	.	13.0695	0.59053	1.0:0.0:0.0:0.0	.	822;795;795	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	V	822;795;795;742	ENSP00000351483:I822V;ENSP00000405812:I795V	ENSP00000315789:I795V	I	+	1	0	SLC4A8	50168846	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.284000	0.95882	1.871000	0.54225	0.377000	0.23210	ATC		0.453	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		6	88	6	88
ITGAL	3683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	30500576	30500576	+	Splice_Site	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr16:30500576G>A	ENST00000356798.6	+	11	1262	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Splice_Site_p.G278D|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	361					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCTGGGCAGGGCCATGCAGTC	0.622																																					NSCLC(110;1462 1641 3311 33990 49495)											0													60.0	58.0	59.0					16																	30500576		2197	4300	6497	SO:0001630	splice_region_variant	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1081-1G>A	16.37:g.30500576G>A			O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082109	0.36758	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.83591	-1.74;-1.74	5.58	0.224	0.15297	.	0.613258	0.15546	N	0.256718	T	0.63850	0.2546	N	0.16903	0.455	0.31012	N	0.719069	B;B	0.19200	0.034;0.004	B;B	0.21917	0.037;0.01	T	0.54397	-0.8300	10	0.02654	T	1	.	8.9205	0.35607	0.4694:0.0:0.5306:0.0	.	278;361	Q96HB1;P20701	.;ITAL_HUMAN	D	361;278	ENSP00000349252:G361D;ENSP00000350886:G278D	ENSP00000349252:G361D	G	+	2	0	ITGAL	30408077	0.082000	0.21442	0.280000	0.24747	0.924000	0.55760	0.065000	0.14466	-0.152000	0.11156	-0.136000	0.14681	GGC		0.622	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Missense_Mutation	22	60	22	60
POFUT2	23275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	46685545	46685545	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr21:46685545A>C	ENST00000349485.5	-	9	1168	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTGCCAATAAAAAACCTGCA	0.498																																																0													54.0	59.0	57.0					21																	46685545		2203	4300	6503	SO:0001583	missense	23275			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1142T>G	21.37:g.46685545A>C	ENSP00000339613:p.Phe381Cys		Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033579	0.75504	.	.	ENSG00000186866	ENST00000349485	T	0.61980	0.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85306	0.1076	10	0.72032	D	0.01	-17.678	12.571	0.56337	1.0:0.0:0.0:0.0	.	381	Q9Y2G5	OFUT2_HUMAN	C	381	ENSP00000339613:F381C	ENSP00000339613:F381C	F	-	2	0	POFUT2	45509973	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.477000	0.90424	1.934000	0.56057	0.533000	0.62120	TTT		0.498	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	30	12	30
MFNG	4242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	37882152	37882152	+	Silent	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:37882152G>A	ENST00000356998.3	-	1	287	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	MFNG_ENST00000416983.3_Silent_p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	22					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CGCAGACACAGGAGCCCCATG	0.682																																																0													23.0	27.0	26.0					22																	37882152		2203	4300	6503	SO:0001819	synonymous_variant	4242			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.64C>T	22.37:g.37882152G>A			B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	CCDS13947.1																																																																																				0.682	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		10	43	10	43
CCDC88A	55704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	55582839	55582839	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:55582839G>A	ENST00000436346.1	-	8	1517	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	226					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGAGGCATGGGGTAGAAAA	0.443																																																0													97.0	82.0	87.0					2																	55582839		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.676C>T	2.37:g.55582839G>A	ENSP00000410608:p.His226Tyr		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	G	8.177	0.792970	0.16327	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.05	5.05	0.67936	.	0.131264	0.34411	U	0.004000	T	0.34600	0.0903	N	0.14661	0.345	0.80722	D	1	B;P;P	0.36125	0.261;0.478;0.538	B;B;B	0.40602	0.334;0.134;0.192	T	0.29671	-1.0004	10	0.51188	T	0.08	-15.073	18.7498	0.91809	0.0:0.0:1.0:0.0	.	226;226;226	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	226	ENSP00000338728:H226Y;ENSP00000263630:H226Y;ENSP00000410608:H226Y;ENSP00000404431:H226Y	ENSP00000263630:H226Y	H	-	1	0	CCDC88A	55436343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.315000	0.78998	2.518000	0.84900	0.591000	0.81541	CAT		0.443	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		19	50	19	50
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	61	26	61
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	56420389	56420389	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr6:56420389T>C	ENST00000361203.3	-	56	14264	c.14257A>G	c.(14257-14259)Agt>Ggt	p.S4753G	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2667G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000370788.2_Missense_Mutation_p.S2667G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000370754.5_Missense_Mutation_p.S4933G			Q03001	DYST_HUMAN	dystonin	4753					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAAGTCACTCAGTTTATCA	0.453																																																0													95.0	92.0	93.0					6																	56420389		1912	4149	6061	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14257A>G	6.37:g.56420389T>C	ENSP00000354508:p.Ser4753Gly		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	9.763	1.170608	0.21621	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.42513	1.15;1.32;1.32;1.32;0.97;1.32;1.32	5.66	-0.901	0.10540	.	0.625591	0.15512	N	0.258473	T	0.14227	0.0344	L	0.43152	1.355	0.25322	N	0.989109	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.13407	0.001;0.002;0.009;0.001;0.0	T	0.22730	-1.0208	9	0.22706	T	0.39	.	11.1476	0.48440	0.0:0.3532:0.0:0.6468	.	2667;4755;4933;4753;2341	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	2341;4933;4755;2667;4429;2667;4753	ENSP00000244364:S2341G;ENSP00000359790:S4933G;ENSP00000359805:S4755G;ENSP00000400883:S2667G;ENSP00000393645:S4429G;ENSP00000359824:S2667G;ENSP00000354508:S4753G	ENSP00000244364:S2341G	S	-	1	0	DST	56528348	0.011000	0.17503	0.035000	0.18076	0.991000	0.79684	0.304000	0.19228	-0.291000	0.09012	0.528000	0.53228	AGT		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	68	7	68
TMEM68	137695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	56663637	56663637	+	Silent	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr8:56663637G>A	ENST00000434581.2	-	5	772	c.573C>T	c.(571-573)caC>caT	p.H191H	TMEM68_ENST00000334667.2_Silent_p.H191H|TMEM68_ENST00000523073.1_Silent_p.H77H|TMEM68_ENST00000519784.1_Silent_p.H77H			Q96MH6	TMM68_HUMAN	transmembrane protein 68	191						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAGCTAACAAGTGGCCACTCC	0.418																																																0													94.0	93.0	94.0					8																	56663637		2203	4300	6503	SO:0001819	synonymous_variant	137695			AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.573C>T	8.37:g.56663637G>A			Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37																																																																																					0.418	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		20	90	20	90
JADE3	9767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	46884202	46884202	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:46884202A>G	ENST00000218343.4	+	5	659	c.361A>G	c.(361-363)Aca>Gca	p.T121A	PHF16_ENST00000397189.1_Missense_Mutation_p.T121A	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCAGACACCACAGAGCCTGG	0.463																																																0													122.0	95.0	104.0					X																	46884202		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.361A>G	X.37:g.46884202A>G	ENSP00000218343:p.Thr121Ala			Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	A	4.549	0.101964	0.08731	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T;T	0.41758	0.99;0.99;0.99	5.79	-11.6	0.00059	Enhancer of polycomb-like, N-terminal (1);	0.649316	0.16270	N	0.221810	T	0.16041	0.0386	N	0.15975	0.35	0.20926	N	0.99983	B	0.02656	0.0	B	0.04013	0.001	T	0.11767	-1.0574	10	0.11485	T	0.65	.	11.3873	0.49793	0.1801:0.0:0.5721:0.2478	.	121	Q92613	JADE3_HUMAN	A	121	ENSP00000391009:T121A;ENSP00000380373:T121A;ENSP00000218343:T121A	ENSP00000218343:T121A	T	+	1	0	PHF16	46769146	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.510000	0.06328	-3.884000	0.00095	-0.443000	0.05667	ACA		0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			19	60	19	60
USP11	8237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	47101902	47101902	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47101902C>T	ENST00000218348.3	+	11	1598	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	USP11_ENST00000377107.2_Missense_Mutation_p.T490M	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCAAACACACGGGCATCTCG	0.567																																																0													85.0	69.0	75.0					X																	47101902		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1598C>T	X.37:g.47101902C>T	ENSP00000218348:p.Thr533Met		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234718	0.58886	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21734	2.0;1.99	5.63	4.74	0.60224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.125517	0.52532	D	0.000078	T	0.33381	0.0861	L	0.44542	1.39	0.43617	D	0.995999	P;D	0.69078	0.763;0.997	P;P	0.58780	0.667;0.845	T	0.04017	-1.0984	10	0.62326	D	0.03	-14.0357	13.6734	0.62438	0.1558:0.8442:0.0:0.0	.	260;533	B3KP28;P51784	.;UBP11_HUMAN	M	490;533	ENSP00000366311:T490M;ENSP00000218348:T533M	ENSP00000218348:T533M	T	+	2	0	USP11	46986846	0.667000	0.27484	0.727000	0.30756	0.659000	0.38960	3.248000	0.51430	1.083000	0.41159	0.500000	0.49745	ACG		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		13	47	13	47
ZNF182	7569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	47836606	47836606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47836606C>T	ENST00000396965.1	-	7	1230	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCCACATTCAGGACACTCA	0.398																																																0													88.0	77.0	81.0					X																	47836606		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.880G>A	X.37:g.47836606C>T	ENSP00000380165:p.Glu294Lys		A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269928	0.59540	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07327	3.2;3.2;3.2	4.53	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	N	0.05199	-0.095	0.26960	N	0.965821	P;D;P	0.57899	0.633;0.981;0.933	P;D;P	0.64144	0.679;0.922;0.497	T	0.27739	-1.0065	9	0.62326	D	0.03	.	11.5562	0.50750	0.0:0.8223:0.1777:0.0	.	274;275;294	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	275;294;294	ENSP00000366142:E275K;ENSP00000380165:E294K;ENSP00000306351:E294K	ENSP00000306351:E294K	E	-	1	0	ZNF182	47721550	0.000000	0.05858	0.914000	0.36105	0.993000	0.82548	-0.062000	0.11674	1.032000	0.39892	0.594000	0.82650	GAA		0.398	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		38	91	38	91
ATP11C	286410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	138886675	138886675	+	Silent	SNP	G	G	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:138886675G>C	ENST00000327569.3	-	6	617	c.519C>G	c.(517-519)acC>acG	p.T173T	ATP11C_ENST00000361648.2_Silent_p.T173T|ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000359686.2_Silent_p.T173T|ATP11C_ENST00000370557.1_Silent_p.T170T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	173					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGACATAACAGGTTCCATCAG	0.393																																																0													218.0	192.0	200.0					X																	138886675		2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.519C>G	X.37:g.138886675G>C			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				0.393	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		74	207	74	207
AOC1	26	broad.mit.edu;ucsc.edu	37	7	150555013	150555013	+	Silent	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr7:150555013C>T	ENST00000493429.1	+	4	2039	c.1455C>T	c.(1453-1455)gtC>gtT	p.V485V	AOC1_ENST00000467291.1_Silent_p.V485V|AOC1_ENST00000416793.2_Silent_p.V485V|AOC1_ENST00000360937.4_Silent_p.V485V			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	485					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGGCTACGTCCACGCCACCT	0.552																																																0													70.0	77.0	75.0					7																	150555013		2164	4253	6417	SO:0001819	synonymous_variant	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1455C>T	7.37:g.150555013C>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1																																																																																				0.552	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		22	86	22	86
NF1	4763	broad.mit.edu;hgsc.bcm.edu	37	17	29556985	29556985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:29556985delC	ENST00000358273.4	+	22	3366	c.2983delC	c.(2983-2985)ctgfs	p.L995fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	995					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGTTAAATCTGGTCAGGTA	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											91.0	91.0	91.0					17																	29556985		2202	4298	6500	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2983delC	17.37:g.29556985delC	ENSP00000351015:p.Leu995fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		41	119	41	119
