#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
BAGE2	85319	broad.mit.edu	37	21	11058309	11058309	+	RNA	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr21:11058309A>G	ENST00000470054.1	-	0	338							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAGTGCTTACAAAATGCAC	0.393																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							124.0	92.0	101.0					21																	11058309		692	1591	2283			85319							g.chr21:11058309A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058309A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	338	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	195	0	0	0	1	0	9	195				
DNAH17	8632	broad.mit.edu	37	17	76456336	76456336	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:76456336C>T	ENST00000585328.1	-	59	9452	c.9328G>A	c.(9328-9330)Gtc>Atc	p.V3110I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3101I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3101	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCAGTGACGTTCTGGAAG	0.562																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9301-9303)Gtc>Atc		dynein, axonemal, heavy chain 17							59.0	52.0	54.0					17																	76456336		2202	4298	6500	SO:0001583	missense	8632							g.chr17:76456336C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9328G>A	17.37:g.76456336C>T	ENSP00000465516:p.Val3110Ile					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3110I	p.V3101I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		59	9425	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9301G>A		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908209	0.52333	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.79141	-1.24	4.76	3.77	0.43336	.	0.131264	0.34046	N	0.004317	T	0.82006	0.4943	M	0.64260	1.97	0.38331	D	0.943794	D	0.60160	0.987	P	0.55577	0.779	T	0.82961	-0.0197	10	0.38643	T	0.18	.	14.0168	0.64529	0.1522:0.8478:0.0:0.0	.	3110	E7EUM8	.	I	3110;3101	ENSP00000374490:V3101I	ENSP00000300671:V3110I	V	-	1	0	DNAH17	73967931	0.999000	0.42202	0.085000	0.20634	0.146000	0.21551	4.601000	0.61090	0.950000	0.37743	0.407000	0.27541	GTC		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6	5	0	0	0	1	0	6	5				
THEMIS	387357	broad.mit.edu	37	6	128134187	128134187	+	Silent	SNP	T	T	C	rs370955905		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:128134187T>C	ENST00000368248.2	-	4	1747	c.1599A>G	c.(1597-1599)gaA>gaG	p.E533E	THEMIS_ENST00000537166.1_Silent_p.E498E|THEMIS_ENST00000543064.1_Silent_p.E533E|THEMIS_ENST00000368250.1_Silent_p.E454E	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	533					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTGATCTCTTCTACCAGAG	0.468																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1360-1362)gaA>gaG		thymocyte selection associated		T	,,	0,4406		0,0,2203	89.0	89.0	89.0		1599,1599,1494	3.5	1.0	6		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	THEMIS	NM_001010923.2,NM_001164685.1,NM_001164687.1	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	533/642,533/681,498/607	128134187	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134187T>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1599A>G	6.37:g.128134187T>C						THEMIS_ENST00000368248.2_Silent_p.E533E|THEMIS_ENST00000543064.1_Silent_p.E533E|THEMIS_ENST00000537166.1_Silent_p.E498E	p.E454E			Q8N1K5	THMS1_HUMAN			5	1860	-			533			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.1362A>G	CCDS34534.1																																																																																				0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		45	58	0	0	0	1	0	45	58				
FAM64A	54478	broad.mit.edu	37	17	6348641	6348641	+	Missense_Mutation	SNP	C	C	T	rs11538170		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:6348641C>T	ENST00000250056.8	+	2	294	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FAM64A_ENST00000572595.2_Missense_Mutation_p.R71C|FAM64A_ENST00000572447.1_Missense_Mutation_p.R71C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R71C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R71C|FAM64A_ENST00000571373.1_Missense_Mutation_p.R71C	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	71					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTCCTGGAAACGCCTGGAAAC	0.627																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(211-213)Cgc>Tgc		family with sequence similarity 64, member A		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	45.0	51.0	49.0		211,211	5.1	1.0	17	dbSNP_120	49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM64A	NM_001195228.1,NM_019013.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	71/249,71/239	6348641	1,13005	2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348641C>T		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.211C>T	17.37:g.6348641C>T	ENSP00000250056:p.Arg71Cys					FAM64A_ENST00000571373.1_Missense_Mutation_p.R71C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R71C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R71C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R71C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R71C	p.R71C	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	320	+			71					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.211C>T	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207210	0.79127	0.0	1.16E-4	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.58358	0.34	5.08	5.08	0.68730	.	0.418318	0.23779	N	0.044649	T	0.68449	0.3002	M	0.72118	2.19	0.43868	D	0.996472	D;D	0.76494	0.999;0.999	D;P	0.63033	0.91;0.855	T	0.71331	-0.4625	10	0.72032	D	0.01	-13.0342	13.8458	0.63466	0.0:1.0:0.0:0.0	rs11538170	71;71	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	C	71	ENSP00000250056:R71C	ENSP00000250056:R71C	R	+	1	0	FAM64A	6289365	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.390000	0.34464	2.652000	0.90054	0.655000	0.94253	CGC		0.627	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		20	44	0	0	0	1	0	20	44				
PDZD7	79955	broad.mit.edu	37	10	102789858	102789858	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:102789858G>A	ENST00000370215.3	-	2	344	c.119C>T	c.(118-120)aCg>aTg	p.T40M	PDZD7_ENST00000470414.1_Missense_Mutation_p.T40M|SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	40						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(118-120)aCg>aTg		PDZ domain containing 7							57.0	61.0	59.0					10																	102789858		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102789858G>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.119C>T	10.37:g.102789858G>A	ENSP00000359234:p.Thr40Met					PDZD7_ENST00000470414.1_Missense_Mutation_p.T40M	p.T40M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	344	-			40					D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.119C>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378851	0.82682	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.13196	2.61	5.17	5.17	0.71159	.	0.896678	0.09422	N	0.804208	T	0.24736	0.0600	N	0.24115	0.695	0.33285	D	0.562717	D;D	0.89917	1.0;1.0	P;D	0.63703	0.87;0.917	T	0.19257	-1.0311	10	0.72032	D	0.01	.	14.0665	0.64834	0.0:0.0:0.8485:0.1515	.	40;40	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	40	ENSP00000359234:T40M	ENSP00000359234:T40M	T	-	2	0	PDZD7	102779848	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.825000	0.55730	2.388000	0.81334	0.448000	0.29417	ACG		0.657	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		35	30	0	0	0	1	0	35	30				
STOM	2040	broad.mit.edu	37	9	124111437	124111437	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:124111437C>A	ENST00000286713.2	-	5	503	c.486G>T	c.(484-486)caG>caT	p.Q162H	STOM_ENST00000538954.1_Missense_Mutation_p.Q111H|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	162					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CAGAGAGGATCTGAGAAAGAT	0.478																																						ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.(484-486)caG>caT		stomatin							124.0	107.0	113.0					9																	124111437		2203	4300	6503	SO:0001583	missense	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124111437C>A		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.486G>T	9.37:g.124111437C>A	ENSP00000286713:p.Gln162His					STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.Q111H	p.Q162H	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	5	503	-			162					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	c.486G>T	CCDS6830.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672036	0.88348	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.94931	-3.56;-3.56	5.5	4.59	0.56863	.	0.050614	0.85682	D	0.000000	D	0.95040	0.8394	L	0.45137	1.4	0.54753	D	0.999983	P	0.52316	0.952	P	0.59948	0.866	D	0.95396	0.8486	10	0.72032	D	0.01	.	13.9748	0.64265	0.0:0.9269:0.0:0.0731	.	162	P27105	STOM_HUMAN	H	162;111	ENSP00000286713:Q162H;ENSP00000445764:Q111H	ENSP00000286713:Q162H	Q	-	3	2	STOM	123151258	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.745000	0.68672	1.527000	0.49086	0.655000	0.94253	CAG		0.478	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		17	10	1	0	5.3912e-06	1	5.60262e-06	17	10				
JMJD1C	221037	broad.mit.edu	37	10	64975203	64975203	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:64975203G>A	ENST00000399262.2	-	7	1053	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	JMJD1C_ENST00000402544.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R97C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	279					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTGGGCACGTGTATAATGG	0.378																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(835-837)Cgt>Tgt		jumonji domain containing 1C							228.0	196.0	206.0					10																	64975203		1909	4126	6035	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64975203G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.835C>T	10.37:g.64975203G>A	ENSP00000382204:p.Arg279Cys					JMJD1C_ENST00000402544.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R97C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R60C	p.R279C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			7	1053	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		279					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.835C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364332	0.61513	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.6	5.6	0.85130	.	0.154041	0.43416	U	0.000562	T	0.37156	0.0993	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.66602	0.945;0.877	T	0.03795	-1.1003	10	0.72032	D	0.01	-9.9244	15.2392	0.73455	0.0:0.0:0.859:0.141	.	279;97	Q15652;A0T124	JHD2C_HUMAN;.	C	279;60;60;97	ENSP00000382204:R279C;ENSP00000384990:R60C;ENSP00000382195:R60C;ENSP00000444682:R97C	ENSP00000382195:R60C	R	-	1	0	JMJD1C	64645209	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.729000	0.68538	2.648000	0.89879	0.655000	0.94253	CGT		0.378	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		59	74	0	0	0	1	0	59	74				
PRRC2B	84726	broad.mit.edu	37	9	134349974	134349974	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:134349974A>G	ENST00000357304.4	+	15	2513	c.2458A>G	c.(2458-2460)Atc>Gtc	p.I820V	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	820							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGACAGCTGTATCTCTTCTCA	0.522																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2458-2460)Atc>Gtc		proline-rich coiled-coil 2B							72.0	75.0	74.0					9																	134349974		1875	4113	5988	SO:0001583	missense	84726						protein binding	g.chr9:134349974A>G	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2458A>G	9.37:g.134349974A>G	ENSP00000349856:p.Ile820Val					PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	p.I820V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	2513	+			820					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.2458A>G	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	0.184	-1.059494	0.01950	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.07688	3.17;3.17	5.46	0.0639	0.14351	.	.	.	.	.	T	0.02494	0.0076	N	0.03608	-0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.45396	-0.9264	9	0.02654	T	1	.	6.3564	0.21404	0.2884:0.258:0.4536:0.0	.	116;820	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	V	820;116;89	ENSP00000349856:I820V;ENSP00000400608:I89V	ENSP00000349856:I820V	I	+	1	0	PRRC2B	133339795	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.060000	0.30530	0.453000	0.26858	0.533000	0.62120	ATC		0.522	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	25	0	0	0	1	0	5	25				
PCSK2	5126	broad.mit.edu	37	20	17240949	17240949	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr20:17240949G>A	ENST00000262545.2	+	2	557	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PCSK2_ENST00000377899.1_Missense_Mutation_p.R62H|PCSK2_ENST00000536609.1_Intron	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	81					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGAGAAGACGCAGCCTACAC	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(241-243)cGc>cAc		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						119.0	110.0	113.0					20																	17240949		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17240949G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.242G>A	20.37:g.17240949G>A	ENSP00000262545:p.Arg81His					PCSK2_ENST00000377899.1_Missense_Mutation_p.R62H|PCSK2_ENST00000536609.1_Intron	p.R81H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			2	557	+			81					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.242G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922336	0.73213	.	.	ENSG00000125851	ENST00000377899;ENST00000262545	T;T	0.31510	1.49;1.49	5.45	4.5	0.54988	Proteinase inhibitor, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.55743	1.74	0.80722	D	1	B	0.22604	0.072	B	0.14023	0.01	T	0.09729	-1.0661	10	0.72032	D	0.01	-21.0415	11.7106	0.51623	0.0:0.0:0.8233:0.1767	.	81	P16519	NEC2_HUMAN	H	62;81	ENSP00000367131:R62H;ENSP00000262545:R81H	ENSP00000262545:R81H	R	+	2	0	PCSK2	17188949	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.794000	0.62482	1.293000	0.44690	-0.261000	0.10672	CGC		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		43	48	0	0	0	1	0	43	48				
EPPK1	83481	broad.mit.edu	37	8	144945118	144945118	+	Missense_Mutation	SNP	G	G	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr8:144945118G>T	ENST00000525985.1	-	2	2375	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L				P58107	EPIPL_HUMAN	epiplakin 1	768						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.F768F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.632																																						ENST00000525985.1																			1	Substitution - coding silent(1)	p.F768F(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2302-2304)ttC>ttA		epiplakin 1							102.0	113.0	109.0					8																	144945118		2116	4232	6348	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945118G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2304C>A	8.37:g.144945118G>T	ENSP00000436337:p.Phe768Leu						p.F768L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2375	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		768					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2304C>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.322373	0.81580	.	.	ENSG00000227184	ENST00000525985	T	0.67523	-0.27	5.16	-0.975	0.10289	.	.	.	.	.	T	0.70254	0.3203	L	0.48362	1.52	0.31611	N	0.65149	D	0.89917	1.0	D	0.77004	0.989	T	0.67757	-0.5588	9	0.19147	T	0.46	.	9.5424	0.39260	0.7263:0.0:0.2737:0.0	.	768	E9PPU0	.	L	768	ENSP00000436337:F768L	ENSP00000436337:F768L	F	-	3	2	EPPK1	145017106	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.842000	0.27627	-0.111000	0.12001	0.655000	0.94253	TTC		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	102	1	0	1.23904e-05	1	1.26287e-05	5	102				
HK3	3101	broad.mit.edu	37	5	176310845	176310845	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:176310845A>G	ENST00000292432.5	-	15	2070	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	660	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATTGACAATGGCAACCAC	0.582																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1978-1980)aTt>aCt		hexokinase 3 (white cell)							210.0	163.0	179.0					5																	176310845		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310845A>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1979T>C	5.37:g.176310845A>G	ENSP00000292432:p.Ile660Thr						p.I660T	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2070	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	660			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1979T>C	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430333	0.83776	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.99252	-5.63;-5.63	5.28	5.28	0.74379	Hexokinase, N-terminal (1);	0.000000	0.53938	D	0.000054	D	0.99489	0.9818	M	0.89715	3.055	0.53005	D	0.999966	D	0.57257	0.979	D	0.83275	0.996	D	0.98335	1.0535	10	0.87932	D	0	.	15.0373	0.71757	1.0:0.0:0.0:0.0	.	660	P52790	HXK3_HUMAN	T	660;41	ENSP00000292432:I660T;ENSP00000424632:I41T	ENSP00000292432:I660T	I	-	2	0	HK3	176243451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.139000	0.94554	2.217000	0.71921	0.379000	0.24179	ATT		0.582	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			11	86	0	0	0	1	0	11	86				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977145	29977145	+	RNA	SNP	G	G	C	rs356969	byFrequency	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:29977145G>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GCTTGTAAAGGTGAGACCCTG	0.512													G|||	1168	0.233227	0.1112	0.1988	5008	,	,		16615	0.2937		0.2604	False		,,,				2504	0.3323					ENST00000376797.3																			0																																																			0							g.chr6:29977145G>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977145G>C						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.512	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	43	0	0	0	1	0	4	43				
DPY19L2	283417	broad.mit.edu	37	12	63994085	63994085	+	Splice_Site	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr12:63994085C>T	ENST00000324472.4	-	13	1543		c.e13+1			NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTACTTACGTGGTCTGAA	0.308																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e13+1		dpy-19-like 2 (C. elegans)							49.0	51.0	50.0					12																	63994085		2201	4295	6496	SO:0001630	splice_region_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63994085C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1359+1G>A	12.37:g.63994085C>T								NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	13	1543	-								A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Splice_Site	SNP	ENST00000324472.4	37		CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611771	0.28712	.	.	ENSG00000177990	ENST00000324472;ENST00000541083	.	.	.	3.37	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4338	0.44424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPY19L2	62280352	1.000000	0.71417	0.999000	0.59377	0.511000	0.34104	4.366000	0.59492	1.889000	0.54706	0.184000	0.17185	.		0.308	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	Intron	25	39	0	0	0	1	0	25	39				
ZNF883	169834	broad.mit.edu	37	9	115760587	115760587	+	lincRNA	SNP	G	G	A	rs7036363	byFrequency	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:115760587G>A	ENST00000427548.1	-	0	1226							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CATTTTTGTCGGTATGTAATA	0.289													G|||	1381	0.275759	0.2269	0.268	5008	,	,		18450	0.371		0.163	False		,,,				2504	0.365					ENST00000427548.1																			0													zinc finger protein 883		G		585,2577		56,473,1052	28.0	29.0	28.0			0.6	0.0	9	dbSNP_116	28	796,5976		50,696,2640	no	utr-5	ZNF883	NM_001101338.1		106,1169,3692	AA,AG,GG		11.7543,18.5009,13.9018			115760587	1381,8553	1581	3386	4967			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760587G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760587G>A										P0CG24	ZN883_HUMAN			0	1226	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.289	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		3	24	0	0	0	1	0	3	24				
ATXN1	6310	broad.mit.edu	37	6	16327718	16327718	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:16327718G>A	ENST00000244769.4	-	8	1760	c.824C>T	c.(823-825)aCg>aTg	p.T275M	ATXN1_ENST00000436367.1_Missense_Mutation_p.T275M	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	275					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGGATCATCGTCTGGTGGGG	0.652																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(823-825)aCg>aTg		ataxin 1							33.0	35.0	34.0					6																	16327718		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327718G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.824C>T	6.37:g.16327718G>A	ENSP00000244769:p.Thr275Met					ATXN1_ENST00000436367.1_Missense_Mutation_p.T275M	p.T275M	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1760	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	275					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.824C>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513241	0.64522	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.37752	1.18;1.18	4.98	4.98	0.66077	.	0.356264	0.32147	N	0.006512	T	0.48095	0.1481	L	0.54323	1.7	0.38037	D	0.935336	D	0.89917	1.0	D	0.68621	0.959	T	0.52495	-0.8568	10	0.66056	D	0.02	-12.0533	18.2423	0.89971	0.0:0.0:1.0:0.0	.	275	P54253	ATX1_HUMAN	M	275	ENSP00000244769:T275M;ENSP00000416360:T275M	ENSP00000244769:T275M	T	-	2	0	ATXN1	16435697	0.991000	0.36638	1.000000	0.80357	0.811000	0.45836	3.038000	0.49783	2.293000	0.77203	0.462000	0.41574	ACG		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		9	17	0	0	0	1	0	9	17				
ACRC	93953	broad.mit.edu	37	X	70824013	70824013	+	Missense_Mutation	SNP	G	G	A	rs374341284		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:70824013G>A	ENST00000373695.1	+	7	1423	c.886G>A	c.(886-888)Gac>Aac	p.D296N	ACRC_ENST00000373696.3_Missense_Mutation_p.D296N			Q96QF7	ACRC_HUMAN	acidic repeat containing	296	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.527																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(886-888)Gac>Aac		acidic repeat containing		G	ASN/ASP	1,3834		0,0,1,1632,570	136.0	127.0	130.0		886		0.0	X		130	0,6728		0,0,0,2428,1872	no	missense	ACRC	NM_052957.4	23	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	296/692	70824013	1,10562	2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824013G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.886G>A	X.37:g.70824013G>A	ENSP00000362799:p.Asp296Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.D296N	p.D296N			Q96QF7	ACRC_HUMAN			7	1423	+	Renal(35;0.156)		296			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.886G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410292	0.25465	2.61E-4	0.0	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.35605	1.3;1.3	.	.	.	.	.	.	.	.	T	0.18087	0.0434	N	0.24115	0.695	0.09310	N	1	B	0.29232	0.238	B	0.15870	0.014	T	0.19386	-1.0307	8	0.21014	T	0.42	.	5.8734	0.18816	8.0E-4:0.0:0.9992:0.0	.	296	Q96QF7	ACRC_HUMAN	N	296	ENSP00000362800:D296N;ENSP00000362799:D296N	ENSP00000362799:D296N	D	+	1	0	ACRC	70740738	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	0.048000	0.14078	0.080000	0.16959	0.081000	0.15443	GAC		0.527	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			111	136	0	0	0	1	0	111	136				
PRMT5	10419	broad.mit.edu	37	14	23390166	23390166	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr14:23390166C>T	ENST00000324366.8	-	17	2084	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V450I|PRMT5_ENST00000553897.1_Missense_Mutation_p.V577I|RBM23_ENST00000556984.1_5'Flank|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|RBM23_ENST00000346528.5_5'Flank|RBM23_ENST00000399922.2_5'Flank|RBM23_ENST00000555209.1_5'Flank|PRMT5_ENST00000397441.2_Missense_Mutation_p.V604I|RBM23_ENST00000359890.3_5'Flank|RBM23_ENST00000542016.2_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.V515I|PRMT5_ENST00000216350.8_Missense_Mutation_p.V560I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	621	Beta barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCAGAACAGACTGGTGCTGTC	0.542																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(1861-1863)Gtc>Atc		protein arginine methyltransferase 5							156.0	124.0	135.0					14																	23390166		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23390166C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1861G>A	14.37:g.23390166C>T	ENSP00000319169:p.Val621Ile					PRMT5_ENST00000538452.1_Missense_Mutation_p.V515I|PRMT5_ENST00000216350.8_Missense_Mutation_p.V560I|PRMT5_ENST00000397440.4_Missense_Mutation_p.V450I|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.V604I|PRMT5_ENST00000553897.1_Missense_Mutation_p.V577I	p.V621I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	17	2084	-	all_cancers(95;2.76e-05)		621					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.1861G>A	CCDS9579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.56|14.56	2.572962|2.572962	0.45798|0.45798	.|.	.|.	ENSG00000100462|ENSG00000100462	ENST00000454731|ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897	.|T;T;T;T;T;T	.|0.22134	.|1.97;1.97;1.97;1.97;1.97;1.97	5.78|5.78	4.79|4.79	0.61399|0.61399	.|.	.|0.368557	.|0.31233	.|N	.|0.008005	T|T	0.12774|0.12774	0.0310|0.0310	N|N	0.21282|0.21282	0.65|0.65	0.43913|0.43913	D|D	0.996551|0.996551	.|B;B;B;B;B	.|0.14438	.|0.0;0.001;0.01;0.0;0.006	.|B;B;B;B;B	.|0.14023	.|0.005;0.007;0.01;0.0;0.007	T|T	0.10894|0.10894	-1.0610|-1.0610	5|10	.|0.26408	.|T	.|0.33	-17.8094|-17.8094	8.0907|8.0907	0.30799|0.30799	0.0:0.8311:0.0:0.1689|0.0:0.8311:0.0:0.1689	.|.	.|577;560;450;621;604	.|G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.|.;.;.;ANM5_HUMAN;.	N|I	162|621;604;450;560;515;577	.|ENSP00000319169:V621I;ENSP00000380583:V604I;ENSP00000380582:V450I;ENSP00000216350:V560I;ENSP00000444915:V515I;ENSP00000452555:V577I	.|ENSP00000216350:V560I	S|V	-|-	2|1	0|0	PRMT5|PRMT5	22460006|22460006	0.885000|0.885000	0.30320|0.30320	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	1.104000|1.104000	0.31074|0.31074	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	AGT|GTC		0.542	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			15	31	0	0	0	1	0	15	31				
ARHGEF4	50649	broad.mit.edu	37	2	131802995	131802995	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:131802995C>A	ENST00000326016.5	+	13	2416	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q573K|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q562K	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	633					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCCAGCAAGCAGCAGGTCAC	0.617																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1897-1899)Cag>Aag		Rho guanine nucleotide exchange factor (GEF) 4							73.0	61.0	65.0					2																	131802995		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131802995C>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1897C>A	2.37:g.131802995C>A	ENSP00000316845:p.Gln633Lys					ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q573K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q562K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q633K	p.Q633K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	13	2416	+		Prostate(154;0.055)	633					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1897C>A	CCDS2165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.024897|2.024897	0.35701|0.35701	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000532720|ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	.|T;T;T;T;T	.|0.68479	.|1.57;-0.33;-0.33;1.57;1.57	5.07|5.07	4.18|4.18	0.49190|0.49190	.|.	.|0.411345	.|0.24481	.|N	.|0.038153	T|T	0.50650|0.50650	0.1628|0.1628	N|N	0.22421|0.22421	0.69|0.69	0.31518|0.31518	N|N	0.662763|0.662763	.|B;B;B	.|0.25609	.|0.017;0.13;0.006	.|B;B;B	.|0.25884	.|0.029;0.064;0.013	T|T	0.51244|0.51244	-0.8730|-0.8730	5|10	.|0.17832	.|T	.|0.49	.|.	13.2641|13.2641	0.60122|0.60122	0.0:0.8392:0.1608:0.0|0.0:0.8392:0.1608:0.0	.|.	.|573;633;633	.|E9PEM0;Q9NR80-4;Q9NR80	.|.;.;ARHG4_HUMAN	E|K	249|633;633;633;573;562	.|ENSP00000316845:Q633K;ENSP00000376680:Q633K;ENSP00000432267:Q633K;ENSP00000387285:Q573K;ENSP00000348017:Q562K	.|ENSP00000316845:Q633K	A|Q	+|+	2|1	0|0	ARHGEF4|ARHGEF4	131519465|131519465	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.948000|0.948000	0.59901|0.59901	3.334000|3.334000	0.52097|0.52097	1.113000|1.113000	0.41760|0.41760	-0.502000|-0.502000	0.04539|0.04539	GCA|CAG		0.617	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			19	39	1	0	1.01871e-10	1	1.07984e-10	19	39				
YIPF1	54432	broad.mit.edu	37	1	54354658	54354658	+	5'UTR	SNP	T	T	G	rs2294508	byFrequency	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:54354658T>G	ENST00000072644.1	-	0	289				YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATTTGCAGGGTTCTAAAAGAA	0.398													G|||	1272	0.253994	0.2769	0.2363	5008	,	,		19167	0.2738		0.1938	False		,,,				2504	0.2771					ENST00000539954.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						c.e2-1		Yip1 domain family, member 1		G		1241,3165		170,901,1132	47.0	50.0	49.0			1.2	0.1	1	dbSNP_100	49	1645,6955		163,1319,2818	yes	utr-5	YIPF1	NM_018982.4		333,2220,3950	GG,GT,TT		19.1279,28.1661,22.1898			54354658	2886,10120	2203	4300	6503	SO:0001623	5_prime_UTR_variant	54432					integral to membrane|transport vesicle		g.chr1:54354658T>G	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.-48A>C	1.37:g.54354658T>G						YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000072644.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR	p.T10_splice			Q9Y548	YIPF1_HUMAN			2	185	-			0					B2RCM7|D3DQ40|Q9NWJ1	Splice_Site	SNP	ENST00000072644.1	37	c.26_splice	CCDS584.1	512	0.23443223443223443	129	0.2621951219512195	91	0.2513812154696133	154	0.2692307692307692	138	0.1820580474934037	G	11.51	1.659104	0.29515	0.281661	0.191279	ENSG00000058799	ENST00000539954	.	.	.	4.29	1.24	0.21308	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.38436	-0.9661	4	0.12430	T	0.62	.	3.993	0.09545	0.1831:0.0:0.4954:0.3214	rs2294508;rs11554146;rs2294508	.	.	.	P	10	.	ENSP00000439926:T10P	T	-	1	0	YIPF1	54127246	0.263000	0.24083	0.112000	0.21494	0.926000	0.56050	0.208000	0.17415	-0.059000	0.13154	-0.217000	0.12591	ACC		0.398	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		3	30	0	0	0	1	0	3	30				
SLC35B2	347734	broad.mit.edu	37	6	44224548	44224548	+	Missense_Mutation	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:44224548G>C	ENST00000393812.3	-	2	222	c.79C>G	c.(79-81)Cct>Gct	p.P27A	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P27A|SLC35B2_ENST00000538577.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	27					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACTCCGGAGGGGCTTCGGGA	0.582																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(79-81)Cct>Gct		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							76.0	83.0	80.0					6																	44224548		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224548G>C	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.79C>G	6.37:g.44224548G>C	ENSP00000377401:p.Pro27Ala					SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P27A	p.P27A	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	222	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		27					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.79C>G	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	g	11.62	1.693433	0.30052	.	.	ENSG00000157593	ENST00000393810;ENST00000393812;ENST00000341553	T	0.28454	1.61	4.02	3.1	0.35709	.	0.162808	0.41938	D	0.000783	T	0.07908	0.0198	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10222	-1.0639	10	0.06494	T	0.89	-23.3075	14.9935	0.71412	0.0:0.1561:0.8439:0.0	.	27	Q8TB61	S35B2_HUMAN	A	27	ENSP00000377401:P27A	ENSP00000342455:P27A	P	-	1	0	SLC35B2	44332526	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	1.120000	0.31271	2.053000	0.61076	0.561000	0.74099	CCT		0.582	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			6	72	0	0	0	1	0	6	72				
CIC	23152	broad.mit.edu	37	19	42798878	42798878	+	Missense_Mutation	SNP	T	T	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:42798878T>G	ENST00000575354.2	+	19	4490	c.4450T>G	c.(4450-4452)Ttc>Gtc	p.F1484V	CIC_ENST00000572681.2_Missense_Mutation_p.F2390V|CIC_ENST00000160740.3_Missense_Mutation_p.F1482V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATGGCTTCTTCCCGTCAGG	0.597			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7168-7170)Ttc>Gtc		capicua transcriptional repressor							83.0	83.0	83.0					19																	42798878		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798878T>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4450T>G	19.37:g.42798878T>G	ENSP00000458663:p.Phe1484Val					CIC_ENST00000160740.3_Missense_Mutation_p.F1482V|CIC_ENST00000575354.2_Missense_Mutation_p.F1484V	p.F2390V			Q96RK0	CIC_HUMAN			20	7236	+		Prostate(69;0.00682)	1484					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7168T>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864278	0.71949	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.62756	0.2454	L	0.29908	0.895	0.51767	D	0.999932	D	0.59357	0.985	D	0.66196	0.942	T	0.66488	-0.5911	8	0.87932	D	0	-6.3598	12.2344	0.54508	0.0:0.0:0.0:1.0	.	1484	Q96RK0	CIC_HUMAN	V	1484	.	ENSP00000160740:F1484V	F	+	1	0	CIC	47490718	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	5.276000	0.65580	2.077000	0.62373	0.402000	0.26972	TTC		0.597	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	12	0	0	0	1	0	34	12				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	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			27	42	0	0	0	1	0	27	42				
ADAMTS9	56999	broad.mit.edu	37	3	64607885	64607885	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr3:64607885T>C	ENST00000498707.1	-	18	3017	c.2675A>G	c.(2674-2676)aAa>aGa	p.K892R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K864R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	892	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGCAGGGTTTACTGCATGC	0.363																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2674-2676)aAa>aGa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							73.0	74.0	73.0					3																	64607885		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64607885T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2675A>G	3.37:g.64607885T>C	ENSP00000418735:p.Lys892Arg					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K864R	p.K892R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	18	3017	-		Lung NSC(201;0.00682)	892			TSP type-1 2.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2675A>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	5.500	0.277329	0.10403	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60548	0.18;0.18	5.63	1.53	0.23141	.	0.290184	0.37437	N	0.002087	T	0.36635	0.0974	N	0.20685	0.6	0.80722	D	1	B;B;B;B	0.11235	0.001;0.004;0.003;0.0	B;B;B;B	0.16289	0.008;0.015;0.008;0.002	T	0.07966	-1.0745	10	0.17832	T	0.49	.	9.8232	0.40896	0.0:0.2456:0.0:0.7544	.	864;892;892;892	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	R	864;892	ENSP00000295903:K864R;ENSP00000418735:K892R	ENSP00000295903:K864R	K	-	2	0	ADAMTS9	64582925	0.994000	0.37717	0.997000	0.53966	0.749000	0.42624	1.474000	0.35398	0.424000	0.26061	-0.376000	0.06991	AAA		0.363	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			28	21	0	0	0	1	0	28	21				
LAMA1	284217	broad.mit.edu	37	18	6999522	6999522	+	Missense_Mutation	SNP	C	C	T	rs146559010	byFrequency	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr18:6999522C>T	ENST00000389658.3	-	32	4678	c.4585G>A	c.(4585-4587)Gtt>Att	p.V1529I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1529	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGCCTGCAAACGCACTGCCCA	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		17806	0.002		0.0	False		,,,				2504	0.001					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4585-4587)Gtt>Att		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	50.0	43.0	46.0		4585	-3.3	0.0	18	dbSNP_134	46	0,8600		0,0,4300	yes	missense	LAMA1	NM_005559.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1529/3076	6999522	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999522C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4585G>A	18.37:g.6999522C>T	ENSP00000374309:p.Val1529Ile						p.V1529I	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			32	4678	-		Colorectal(10;0.172)	1529			Laminin EGF-like 17.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4585G>A	CCDS32787.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.417	0.445027	0.12164	2.27E-4	0.0	ENSG00000101680	ENST00000389658	T	0.61627	0.09	5.87	-3.27	0.05048	EGF-like, laminin (3);	1.199820	0.05694	N	0.592775	T	0.34279	0.0892	N	0.17800	0.525	0.09310	N	1	B	0.19445	0.036	B	0.16722	0.016	T	0.12785	-1.0534	10	0.19590	T	0.45	.	2.9671	0.05911	0.1549:0.2942:0.0922:0.4588	.	1529	P25391	LAMA1_HUMAN	I	1529	ENSP00000374309:V1529I	ENSP00000374309:V1529I	V	-	1	0	LAMA1	6989522	0.000000	0.05858	0.016000	0.15963	0.101000	0.19017	-0.677000	0.05215	-0.290000	0.09025	-0.768000	0.03414	GTT		0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		3	30	0	0	0	1	0	3	30				
APOB	338	broad.mit.edu	37	2	21234703	21234703	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:21234703C>T	ENST00000233242.1	-	26	5164	c.5037G>A	c.(5035-5037)ggG>ggA	p.G1679G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1679					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATAGATGCCCCAGAGAGGC	0.493																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5035-5037)ggG>ggA		apolipoprotein B	Atorvastatin(DB01076)						83.0	78.0	79.0					2																	21234703		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234703C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5037G>A	2.37:g.21234703C>T							p.G1679G	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5164	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1679					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5037G>A	CCDS1703.1																																																																																				0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			30	64	0	0	0	1	0	30	64				
FUBP1	8880	broad.mit.edu	37	1	78425869	78425869	+	Splice_Site	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:78425869C>G	ENST00000370768.2	-	16	1657	c.1576G>C	c.(1576-1578)Gct>Cct	p.A526P	FUBP1_ENST00000436586.2_Splice_Site_p.A547P|FUBP1_ENST00000370767.1_Splice_Site_p.A526P	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	526	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCTTCTACCTGGATCAGGA	0.413			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e16+1		far upstream element (FUSE) binding protein 1							49.0	51.0	50.0					1																	78425869		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78425869C>G	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1576+1G>C	1.37:g.78425869C>G						FUBP1_ENST00000436586.2_Splice_Site_p.A547_splice|FUBP1_ENST00000370768.2_Splice_Site_p.A526_splice	p.A526_splice			Q96AE4	FUBP1_HUMAN			16	1663	-			526			Pro-rich.		Q12828	Splice_Site	SNP	ENST00000370768.2	37	c.1576_splice	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570020	0.65765	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.32753	1.44;1.44;1.46	5.6	5.6	0.85130	.	0.325597	0.31673	N	0.007254	T	0.08313	0.0207	N	0.14661	0.345	0.46631	D	0.999138	B;B	0.22604	0.072;0.072	B;B	0.15484	0.013;0.013	T	0.15809	-1.0424	9	.	.	.	.	12.8925	0.58080	0.0:0.926:0.0:0.074	.	547;526	B4DT31;Q96AE4	.;FUBP1_HUMAN	P	525;526;526;511;547	ENSP00000359803:A526P;ENSP00000359804:A526P;ENSP00000389536:A547P	.	A	-	1	0	FUBP1	78198457	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.211000	0.58507	2.627000	0.88993	0.650000	0.86243	GCT		0.413	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Missense_Mutation	14	14	0	0	0	1	0	14	14				
KLHL26	55295	broad.mit.edu	37	19	18779269	18779269	+	Silent	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:18779269G>A	ENST00000300976.4	+	3	1152	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	354										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCACACGTGCGTGGCCG	0.677																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1060-1062)acG>acA		kelch-like family member 26							19.0	19.0	19.0					19																	18779269		2129	4175	6304	SO:0001819	synonymous_variant	55295							g.chr19:18779269G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1062G>A	19.37:g.18779269G>A						KLHL26_ENST00000599006.1_Intron	p.T354T	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1152	+			354					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1062G>A	CCDS12384.1																																																																																				0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		9	18	0	0	0	1	0	9	18				
CCDC108	255101	broad.mit.edu	37	2	219900291	219900291	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:219900291C>T	ENST00000341552.5	-	5	536	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CCDC108_ENST00000410037.1_Silent_p.L86L|CCDC108_ENST00000324264.6_Silent_p.L86L|CCDC108_ENST00000295729.2_Silent_p.L86L|CCDC108_ENST00000441968.1_Silent_p.L151L|CCDC108_ENST00000409865.3_Silent_p.L140L|CCDC108_ENST00000453220.1_Silent_p.L151L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	151						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCCAATGCAGCTCCTCAG	0.502																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(451-453)ctG>ctA		coiled-coil domain containing 108							172.0	157.0	162.0					2																	219900291		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219900291C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.453G>A	2.37:g.219900291C>T						CCDC108_ENST00000410037.1_Silent_p.L86L|CCDC108_ENST00000409865.3_Silent_p.L140L|CCDC108_ENST00000324264.6_Silent_p.L86L|CCDC108_ENST00000295729.2_Silent_p.L86L|CCDC108_ENST00000441968.1_Silent_p.L151L|CCDC108_ENST00000453220.1_Silent_p.L151L	p.L151L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	536	-		Renal(207;0.0915)	151					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.453G>A	CCDS2430.2																																																																																				0.502	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		55	71	0	0	0	1	0	55	71				
AMOT	154796	broad.mit.edu	37	X	112058788	112058788	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:112058788T>C	ENST00000524145.1	-	3	1264	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	AMOT_ENST00000371958.1_Missense_Mutation_p.Q165R|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Missense_Mutation_p.Q165R|AMOT_ENST00000371959.3_Missense_Mutation_p.Q397R			Q4VCS5	AMOT_HUMAN	angiomotin	397					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ctgtggctgctgctgctgctg	0.572																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1189-1191)cAg>cGg		angiomotin							40.0	37.0	38.0					X																	112058788		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058788T>C	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1190A>G	X.37:g.112058788T>C	ENSP00000429013:p.Gln397Arg					AMOT_ENST00000524145.1_Missense_Mutation_p.Q397R|AMOT_ENST00000371958.1_Missense_Mutation_p.Q165R|AMOT_ENST00000371962.1_Missense_Mutation_p.Q165R|AMOT_ENST00000304758.1_5'UTR	p.Q397R	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1189	-			397					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1190A>G	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	T	3.148	-0.174857	0.06421	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.77	2.29	0.28610	.	0.175719	0.22747	U	0.056122	T	0.06508	0.0167	N	0.08118	0	0.27082	N	0.963064	B	0.30193	0.272	B	0.33620	0.167	T	0.41680	-0.9495	10	0.15066	T	0.55	.	8.3209	0.32128	0.0:0.0:0.3897:0.6103	.	397	Q4VCS5	AMOT_HUMAN	R	397;165;397;165	ENSP00000361027:Q397R;ENSP00000361030:Q165R;ENSP00000429013:Q397R;ENSP00000361026:Q165R	ENSP00000361026:Q165R	Q	-	2	0	AMOT	111945444	0.979000	0.34478	0.993000	0.49108	0.260000	0.26232	0.792000	0.26929	0.237000	0.21200	-1.679000	0.00737	CAG		0.572	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	48	0	0	0	1	0	4	48				
ANKRD27	84079	broad.mit.edu	37	19	33096834	33096834	+	Silent	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:33096834A>G	ENST00000306065.4	-	24	2558	c.2400T>C	c.(2398-2400)aaT>aaC	p.N800N	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	800					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGGTTTTGCATTCGAATCTA	0.473																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2398-2400)aaT>aaC		ankyrin repeat domain 27 (VPS9 domain)							153.0	147.0	149.0					19																	33096834		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33096834A>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2400T>C	19.37:g.33096834A>G							p.N800N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			24	2558	-	Esophageal squamous(110;0.137)		800					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.2400T>C	CCDS32986.1																																																																																				0.473	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		15	13	0	0	0	1	0	15	13				
ZNF347	84671	broad.mit.edu	37	19	53643617	53643617	+	Missense_Mutation	SNP	C	C	T	rs368225234		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:53643617C>T	ENST00000334197.7	-	5	2532	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M	ZNF347_ENST00000601469.2_Missense_Mutation_p.V823M|ZNF347_ENST00000452676.2_Missense_Mutation_p.V823M|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	822					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTTTCCACACGTTACATTTG	0.413																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2467-2469)Gtg>Atg		zinc finger protein 347		C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	182.0	176.0	178.0		2467,2467,2464	-5.8	0.0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	823/841,823/841,822/840	53643617	1,13005	2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643617C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2464G>A	19.37:g.53643617C>T	ENSP00000334146:p.Val822Met					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.V823M|ZNF347_ENST00000334197.7_Missense_Mutation_p.V822M	p.V823M	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2893	-			822					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2467G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857547	0.17106	0.0	1.16E-4	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.16196	2.36;2.36	2.88	-5.76	0.02376	.	.	.	.	.	T	0.07593	0.0191	L	0.35723	1.085	0.09310	N	1	B;P	0.48998	0.014;0.918	B;B	0.34038	0.01;0.174	T	0.12319	-1.0552	9	0.59425	D	0.04	.	1.5082	0.02491	0.1216:0.3401:0.2412:0.2971	.	823;822	G5E9N4;Q96SE7	.;ZN347_HUMAN	M	822;823;79	ENSP00000334146:V822M;ENSP00000405218:V823M	ENSP00000334146:V822M	V	-	1	0	ZNF347	58335429	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.880000	0.04183	-1.201000	0.02659	-1.452000	0.01034	GTG		0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		54	29	0	0	0	1	0	54	29				
OR8K3	219473	broad.mit.edu	37	11	56086683	56086683	+	Nonsense_Mutation	SNP	C	C	T	rs141093095		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:56086683C>T	ENST00000312711.1	+	1	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R301*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATATGCCCTACGAAGGACATG	0.323													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19373	0.0		0.0	False		,,,				2504	0.0					ENST00000312711.1																			1	Substitution - Nonsense(1)	p.R301*(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(901-903)Cga>Tga		olfactory receptor, family 8, subfamily K, member 3		C	stop/ARG	0,4402		0,0,2201	49.0	46.0	47.0		901	-3.6	0.0	11	dbSNP_134	47	4,8588	3.7+/-12.6	0,4,4292	yes	stop-gained	OR8K3	NM_001005202.1		0,4,6493	TT,TC,CC		0.0466,0.0,0.0308		301/313	56086683	4,12990	2201	4296	6497	SO:0001587	stop_gained	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086683C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.901C>T	11.37:g.56086683C>T	ENSP00000323555:p.Arg301*						p.R301*	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	901	+	Esophageal squamous(21;0.00448)		301					Q6IFC4	Nonsense_Mutation	SNP	ENST00000312711.1	37	c.901C>T	CCDS31527.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.524	0.464916	0.12402	0.0	4.66E-4	ENSG00000181689	ENST00000312711	.	.	.	4.3	-3.62	0.04543	.	1.883800	0.02331	N	0.073976	.	.	.	.	.	.	0.29942	N	0.820943	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	2.5282	0.04696	0.4248:0.3193:0.1009:0.1551	.	.	.	.	X	301	.	ENSP00000323555:R301X	R	+	1	2	OR8K3	55843259	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.487000	0.06505	-0.709000	0.05008	-1.727000	0.00703	CGA		0.323	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		3	33	0	0	0	1	0	3	33				
UPRT	139596	broad.mit.edu	37	X	74519578	74519578	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:74519578A>G	ENST00000373383.4	+	5	738	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	UPRT_ENST00000373379.1_Missense_Mutation_p.M191V|UPRT_ENST00000530743.1_Missense_Mutation_p.M55V	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	191					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGAGGCAATGGAACAAGG	0.383																																						ENST00000373379.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						c.(571-573)Atg>Gtg		uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)							68.0	59.0	62.0					X																	74519578		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74519578A>G	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.571A>G	X.37:g.74519578A>G	ENSP00000362481:p.Met191Val					UPRT_ENST00000373383.4_Missense_Mutation_p.M191V|UPRT_ENST00000530743.1_Missense_Mutation_p.M55V	p.M191V			Q96BW1	UPP_HUMAN			5	736	+			191					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.571A>G	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231803	0.79688	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91686	-2.89;-2.89;-2.89	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.97265	3.97	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	D	0.98581	1.0650	10	0.87932	D	0	-17.3309	13.9801	0.64299	1.0:0.0:0.0:0.0	.	191;191	A8KAF9;Q96BW1	.;UPP_HUMAN	V	191;191;55	ENSP00000362481:M191V;ENSP00000362477:M191V;ENSP00000434037:M55V	ENSP00000362477:M191V	M	+	1	0	UPRT	74436303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.954000	0.93051	1.899000	0.54978	0.441000	0.28932	ATG		0.383	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		6	74	0	0	0	1	0	6	74				
OTOF	9381	broad.mit.edu	37	2	26696893	26696893	+	Missense_Mutation	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:26696893C>G	ENST00000272371.2	-	27	3500	c.3374G>C	c.(3373-3375)gGc>gCc	p.G1125A	OTOF_ENST00000403946.3_Missense_Mutation_p.G1125A|OTOF_ENST00000338581.6_Missense_Mutation_p.G378A|OTOF_ENST00000402415.3_Missense_Mutation_p.G435A|OTOF_ENST00000339598.3_Missense_Mutation_p.G378A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1125					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGGATGCCCATGGGCAC	0.647																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3373-3375)gGc>gCc		otoferlin							62.0	63.0	63.0					2																	26696893		2203	4299	6502	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696893C>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3374G>C	2.37:g.26696893C>G	ENSP00000272371:p.Gly1125Ala					OTOF_ENST00000403946.3_Missense_Mutation_p.G1125A|OTOF_ENST00000402415.3_Missense_Mutation_p.G435A|OTOF_ENST00000339598.3_Missense_Mutation_p.G378A|OTOF_ENST00000338581.6_Missense_Mutation_p.G378A	p.G1125A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			27	3500	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1125					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3374G>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	32	5.148802	0.94603	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	M	0.89214	3.015	0.80722	D	1	D;P;D;P	0.89917	1.0;0.851;1.0;0.938	D;P;D;P	0.97110	0.998;0.623;1.0;0.878	D	0.90461	0.4446	10	0.35671	T	0.21	-35.8409	19.1008	0.93274	0.0:1.0:0.0:0.0	.	1125;378;435;378	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	A	378;378;435;1125;1125	ENSP00000345137:G378A;ENSP00000344521:G378A;ENSP00000383906:G435A;ENSP00000272371:G1125A;ENSP00000385255:G1125A	ENSP00000272371:G1125A	G	-	2	0	OTOF	26550397	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.966000	0.56795	2.615000	0.88500	0.550000	0.68814	GGC		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			20	38	0	0	0	1	0	20	38				
CPS1	1373	broad.mit.edu	37	2	211471549	211471549	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:211471549C>T	ENST00000233072.5	+	18	2272	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	CPS1_ENST00000430249.2_Silent_p.G698G|CPS1_ENST00000451903.2_Silent_p.G241G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	692	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCCACTTGGGCATTGTGGGTG	0.478																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2074-2076)ggC>ggT		carbamoyl-phosphate synthase 1, mitochondrial							166.0	142.0	150.0					2																	211471549		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471549C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2076C>T	2.37:g.211471549C>T						CPS1_ENST00000451903.2_Silent_p.G241G|CPS1_ENST00000430249.2_Silent_p.G698G	p.G692G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2272	+			692			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.2076C>T	CCDS2393.1																																																																																				0.478	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			37	33	0	0	0	1	0	37	33				
YWHAEP7	284100	broad.mit.edu	37	17	36214092	36214092	+	RNA	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:36214092G>A	ENST00000590732.1	-	0	360					NR_024178.1																						ATTTCCTGTGGCAAATTCTGC	0.388																																						ENST00000590732.1																			0																																																			0							g.chr17:36214092G>A																													17.37:g.36214092G>A								NR_024178.1						0	360	-									RNA	SNP	ENST00000590732.1	37																																																																																						0.388	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			3	26	0	0	0	1	0	3	26				
HUWE1	10075	broad.mit.edu	37	X	53618082	53618082	+	Splice_Site	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:53618082G>C	ENST00000342160.3	-	33	4430	c.3973C>G	c.(3973-3975)Ctc>Gtc	p.L1325V	HUWE1_ENST00000262854.6_Splice_Site_p.L1325V|HUWE1_ENST00000218328.8_Splice_Site_p.L1325V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1325	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCATGAGCTACATAAAG	0.433																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.e33-1		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							120.0	95.0	103.0					X																	53618082		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53618082G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3973-1C>G	X.37:g.53618082G>C						HUWE1_ENST00000218328.8_Splice_Site_p.L1325_splice|HUWE1_ENST00000262854.6_Splice_Site_p.L1325_splice	p.L1325_splice			Q7Z6Z7	HUWE1_HUMAN			33	4430	-			1325			UBA.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	c.3972_splice	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.08|18.08	3.545079|3.545079	0.65198|0.65198	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	5.4|5.4	4.53|4.53	0.55603|0.55603	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	.|0.177741	.|0.37219	.|N	.|0.002187	T|T	0.66386|0.66386	0.2784|0.2784	M|M	0.75150|0.75150	2.29|2.29	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.83275	.|0.996;0.996	T|T	0.70226|0.70226	-0.4930|-0.4930	5|10	.|0.87932	.|D	.|0	.|.	11.5762|11.5762	0.50862|0.50862	0.0905:0.0:0.9095:0.0|0.0905:0.0:0.9095:0.0	.|.	.|1325;1325	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	G|V	358|1325	.|ENSP00000340648:L1325V;ENSP00000262854:L1325V;ENSP00000218328:L1325V	.|ENSP00000218328:L1325V	A|L	-|-	2|1	0|0	HUWE1|HUWE1	53634807|53634807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	4.436000|4.436000	0.59948|0.59948	2.260000|2.260000	0.74910|0.74910	0.544000|0.544000	0.68410|0.68410	GCT|CTC		0.433	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Missense_Mutation	14	18	0	0	0	1	0	14	18				
SLFN12	55106	broad.mit.edu	37	17	33738552	33738552	+	Silent	SNP	C	C	T	rs150878441		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:33738552C>T	ENST00000394562.1	-	6	2065	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	SLFN12_ENST00000304905.5_Silent_p.S514S|SLFN12_ENST00000452764.3_Silent_p.S514S|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAATTACTTGCGACCTTAAAT	0.393																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1540-1542)tcG>tcA		schlafen family member 12		C		0,4406		0,0,2203	78.0	77.0	77.0		1542	-5.0	0.0	17	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLFN12	NM_018042.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		514/579	33738552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55106						ATP binding	g.chr17:33738552C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1542G>A	17.37:g.33738552C>T						SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Silent_p.S514S|SLFN12_ENST00000452764.3_Silent_p.S514S	p.S514S			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2065	-		Ovarian(249;0.17)	514					A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	c.1542G>A	CCDS11295.1																																																																																				0.393	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		23	44	0	0	0	1	0	23	44				
QTRT1	81890	broad.mit.edu	37	19	10812925	10812925	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:10812925C>T	ENST00000250237.5	+	3	456	c.446C>T	c.(445-447)gCg>gTg	p.A149V	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	149					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ATCCAGAATGCGCTGGGTGAG	0.607																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(445-447)gCg>gTg		queuine tRNA-ribosyltransferase 1							34.0	37.0	36.0					19																	10812925		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10812925C>T	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.446C>T	19.37:g.10812925C>T	ENSP00000250237:p.Ala149Val					QTRT1_ENST00000585885.1_3'UTR	p.A149V	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		3	456	+			149					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.446C>T	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742295	0.69418	.	.	ENSG00000213339	ENST00000250237;ENST00000421333	.	.	.	5.37	5.37	0.77165	.	0.158061	0.42548	U	0.000692	T	0.56673	0.2001	L	0.43701	1.375	0.47245	D	0.999364	B	0.18741	0.03	B	0.23018	0.043	T	0.52403	-0.8580	9	0.38643	T	0.18	-5.4162	16.0845	0.81031	0.0:1.0:0.0:0.0	.	149	Q9BXR0	TGT_HUMAN	V	149	.	ENSP00000250237:A149V	A	+	2	0	QTRT1	10673925	1.000000	0.71417	0.942000	0.38095	0.610000	0.37248	5.820000	0.69250	2.535000	0.85469	0.650000	0.86243	GCG		0.607	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		3	38	0	0	0	1	0	3	38				
MYO15A	51168	broad.mit.edu	37	17	18052562	18052562	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:18052562A>G	ENST00000205890.5	+	34	7327	c.6989A>G	c.(6988-6990)gAc>gGc	p.D2330G	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2330	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGATGAGGACATGTCCACT	0.527																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6988-6990)gAc>gGc		myosin XVA							48.0	52.0	51.0					17																	18052562		2039	4178	6217	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052562A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6989A>G	17.37:g.18052562A>G	ENSP00000205890:p.Asp2330Gly						p.D2330G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			34	7327	+	all_neural(463;0.228)		2330			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6989A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	a	14.08	2.427759	0.43122	.	.	ENSG00000091536	ENST00000205890	D	0.88354	-2.37	4.03	2.87	0.33458	.	.	.	.	.	D	0.84197	0.5419	L	0.56769	1.78	0.30510	N	0.769551	B	0.14438	0.01	B	0.10450	0.005	T	0.79492	-0.1781	9	0.56958	D	0.05	.	4.1068	0.10040	0.6762:0.2122:0.1117:0.0	.	2330	Q9UKN7	MYO15_HUMAN	G	2330	ENSP00000205890:D2330G	ENSP00000205890:D2330G	D	+	2	0	MYO15A	17993287	0.999000	0.42202	0.115000	0.21578	0.260000	0.26232	5.880000	0.69698	1.690000	0.51089	0.375000	0.23000	GAC		0.527	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	14	0	0	0	1	0	10	14				
PDZD3	79849	broad.mit.edu	37	11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:119058335delC	ENST00000531114.1	+	4	1330	c.781delC	c.(781-783)cccfs	p.P262fs	PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	262	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552																																						ENST00000531114.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(781-783)ccfs		PDZ domain containing 3			,	10,25,4157		1,0,8,9,7,2071	14.0	18.0	17.0		,	-3.2	1.0	11		17	12,64,8084		0,0,12,25,14,4029	no	codingComplex,codingComplex	PDZD3	NM_024791.3,NM_001168468.1	,	1,0,20,34,21,6100	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9314,0.8349,0.8986	,	,	119058335	22,89,12241	2181	4257	6438	SO:0001589	frameshift_variant	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119058335delC	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.781delC	11.37:g.119058335delC	ENSP00000431164:p.Pro262fs					PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs	p.P262fs			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	4	1330	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	262			PDZ 2.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Frame_Shift_Del	DEL	ENST00000531114.1	37	c.781delC																																																																																					0.552	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		3	5						3	5	---	---	---	---
FUS	2521	broad.mit.edu	37	16	31200459	31200461	+	In_Frame_Del	DEL	ACA	ACA	-	rs192350464		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:31200459_31200461delACA	ENST00000254108.7	+	9	953_955	c.848_850delACA	c.(847-852)gacaac>gac	p.N285del	FUS_ENST00000568685.1_In_Frame_Del_p.N286del|FUS_ENST00000380244.3_In_Frame_Del_p.N284del|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	285	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATAATTCAGACAACAACACCAT	0.374			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(847-852)gac>g		fused in sarcoma																																				SO:0001651	inframe_deletion	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31200459_31200461delACA	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.848_850delACA	16.37:g.31200465_31200467delACA	ENSP00000254108:p.Asn285del					FUS_ENST00000568685.1_In_Frame_Del_p.DN284del|FUS_ENST00000380244.3_In_Frame_Del_p.DN282del|FUS_ENST00000474990.1_3'UTR	p.DN283del	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	9	953_955	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	283					Q9H4A8	In_Frame_Del	DEL	ENST00000254108.7	37	c.848_850delACA	CCDS10707.1																																																																																				0.374	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		46	185						46	185	---	---	---	---
