#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EYA4	2070	broad.mit.edu	37	6	133802618	133802618	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr6:133802618C>A	ENST00000367895.5	+	12	1452	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	EYA4_ENST00000431403.2_Missense_Mutation_p.Q330K|EYA4_ENST00000430974.2_Missense_Mutation_p.Q282K|EYA4_ENST00000525849.1_Missense_Mutation_p.Q307K|EYA4_ENST00000355167.3_Missense_Mutation_p.Q330K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q307K|EYA4_ENST00000452339.2_Missense_Mutation_p.Q276K|EYA4_ENST00000531901.1_Missense_Mutation_p.Q336K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	330					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CGATACCATGCAGAGTCCCTC	0.413																																					Melanoma(57;398 1237 3528 4702 7415)	uc011ecs.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1006-1008)Cag>Aag		Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.							122.0	127.0	125.0					6																	133802618		2203	4300	6503	SO:0001583	missense	2070				DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802618C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.988C>A	6.37:g.133802618C>A	ENSP00000356870:p.Gln330Lys		Somatic				EYA4_uc011ecq.2_Missense_Mutation_p.Q276K|EYA4_uc011ecr.2_Missense_Mutation_p.Q282K|EYA4_uc003qec.4_Missense_Mutation_p.Q330K|EYA4_uc003qed.4_Missense_Mutation_p.Q330K|EYA4_uc003qee.4_Missense_Mutation_p.Q307K|BC041459_uc003qef.1_Intron	p.Q336K	NM_004100	NP_004091	WXS	Illumina GAIIx	Phase_I	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	11	1322	+	Colorectal(23;0.221)		330					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1006C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017992	0.35606	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	L	0.44542	1.39	0.80722	D	1	B;B;B;P;B;B	0.46220	0.209;0.036;0.045;0.874;0.022;0.209	B;B;B;P;B;B	0.44946	0.185;0.016;0.019;0.465;0.022;0.185	T	0.70278	-0.4916	10	0.05620	T	0.96	-7.9098	19.7597	0.96309	0.0:1.0:0.0:0.0	.	336;282;276;307;330;330	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	K	276;282;330;330;307;336;307;330	ENSP00000395916:Q276K;ENSP00000388670:Q282K;ENSP00000356870:Q330K;ENSP00000347294:Q330K;ENSP00000347434:Q307K;ENSP00000432770:Q336K;ENSP00000433219:Q307K;ENSP00000404558:Q330K	ENSP00000347294:Q330K	Q	+	1	0	EYA4	133844311	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.590000	0.82653	2.665000	0.90641	0.655000	0.94253	CAG		0.413	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	100	0	0	0	1	0	13	100				
TCERG1L	256536	broad.mit.edu	37	10	132944819	132944819	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr10:132944819T>C	ENST00000368642.4	-	7	1224	c.1139A>G	c.(1138-1140)aAc>aGc	p.N380S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	380										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AATGATCCTGTTGAGGTCTCC	0.542																																						uc001lkp.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1138-1140)aAc>aGc		Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.							119.0	109.0	112.0					10																	132944819		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132944819T>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1139A>G	10.37:g.132944819T>C	ENSP00000357631:p.Asn380Ser		Somatic				TCERG1L_uc009yax.1_Non-coding_Transcript	p.N380S	NM_174937	NP_777597	WXS	Illumina GAIIx	Phase_I	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	6	1225	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	380					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1139A>G	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429928	0.43122	.	.	ENSG00000176769	ENST00000368642	T	0.22134	1.97	4.83	1.0	0.19881	WW/Rsp5/WWP (1);	0.142736	0.43747	D	0.000528	T	0.14399	0.0348	L	0.46157	1.445	0.39909	D	0.974008	B	0.34015	0.435	B	0.27262	0.078	T	0.06427	-1.0827	10	0.72032	D	0.01	-4.4468	5.7274	0.18020	0.0:0.1491:0.2633:0.5877	.	380	Q5VWI1	TCRGL_HUMAN	S	380	ENSP00000357631:N380S	ENSP00000357631:N380S	N	-	2	0	TCERG1L	132834809	0.999000	0.42202	0.996000	0.52242	0.904000	0.53231	2.487000	0.45268	-0.014000	0.14175	0.383000	0.25322	AAC		0.542	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		4	46	0	0	0	1	0	4	46				
MBIP	51562	broad.mit.edu	37	14	36783808	36783808	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr14:36783808T>C	ENST00000416007.4	-	4	568	c.481A>G	c.(481-483)Aga>Gga	p.R161G	MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.R161G|MBIP_ENST00000359527.7_Missense_Mutation_p.R161G	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	161					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GATATTCGTCTGTCAATCTAC	0.338																																						uc001wtm.2																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(481-483)Aga>Gga		Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.							63.0	62.0	63.0					14																	36783808		2202	4296	6498	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783808T>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.481A>G	14.37:g.36783808T>C	ENSP00000399718:p.Arg161Gly		Somatic				MBIP_uc001wto.2_Missense_Mutation_p.R161G|MBIP_uc010tpy.1_Missense_Mutation_p.R20G|MBIP_uc001wtn.2_Missense_Mutation_p.R161G	p.R161G	NM_016586	NP_057670	WXS	Illumina GAIIx	Phase_I	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	3	569	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		161					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.481A>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.59|15.59	2.877897|2.877897	0.51801|0.51801	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298;ENST00000553549	.|T;T;T	.|0.50277	.|0.75;0.75;0.75	5.84|5.84	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66015|0.66015	0.2747|0.2747	M|M	0.72353|0.72353	2.195|2.195	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D;D;D	.|0.89917	.|0.996;0.998;1.0;0.998	.|P;D;D;D	.|0.71414	.|0.895;0.957;0.973;0.969	T|T	0.68880|0.68880	-0.5292|-0.5292	5|10	.|0.72032	.|D	.|0.01	-13.795|-13.795	13.0942|13.0942	0.59182|0.59182	0.0:0.0:0.1339:0.8661|0.0:0.0:0.1339:0.8661	.|.	.|135;161;161;161	.|B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;.;MBIP1_HUMAN	R|G	157|161;161;161;168;121;140	.|ENSP00000399718:R161G;ENSP00000324444:R161G;ENSP00000352517:R161G	.|ENSP00000324444:R161G	Q|R	-|-	2|1	0|2	MBIP|MBIP	35853559|35853559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.646000|4.646000	0.61411|0.61411	1.010000|1.010000	0.39314|0.39314	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.338	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		5	31	0	0	0	1	0	5	31				
GCKR	2646	broad.mit.edu	37	2	27728639	27728639	+	Silent	SNP	C	C	T			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr2:27728639C>T	ENST00000264717.2	+	10	868	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	GCKR_ENST00000424318.2_Silent_p.L79L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	269	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACCAAGATTCTGCTGGAAAC	0.532																																						uc002rky.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(805-807)Ctg>Ttg		Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.							100.0	90.0	94.0					2																	27728639		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728639C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.805C>T	2.37:g.27728639C>T			Somatic				GCKR_uc010ezd.3_Silent_p.L269L|GCKR_uc010ylu.2_Silent_p.L79L	p.L269L	NM_001486	NP_001477	WXS	Illumina GAIIx	Phase_I	Q14397	GCKR_HUMAN			9	871	+	Acute lymphoblastic leukemia(172;0.155)		269			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.805C>T	CCDS1757.1																																																																																				0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		4	75	0	0	0	1	0	4	75				
MAN2B1	4125	broad.mit.edu	37	19	12777488	12777488	+	Frame_Shift_Del	DEL	C	C	-	rs558131886	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:12777488delC	ENST00000456935.2	-	1	68	c.28delG	c.(28-30)gtcfs	p.V10fs	WDR83_ENST00000418543.3_5'Flank|CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.V10fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	10					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAGCGCAGACCCCCGAAGCC	0.721																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(28-30)gtcfs		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							3.0	5.0	4.0					19																	12777488		1842	3799	5641	SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12777488delC		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.28delG	19.37:g.12777488delC	ENSP00000395473:p.Val10fs		Somatic				MAN2B1_uc010dyv.1_Frame_Shift_Del_p.V10fs|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank	p.V10fs	NM_000528	NP_000519	WXS	Illumina GAIIx	Phase_I	O00754	MA2B1_HUMAN			0	104	-			10					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Del	DEL	ENST00000456935.2	37	c.28delG	CCDS32919.1																																																																																				0.721	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			2	4						2	4	---	---	---	---
