#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
PDZD7	79955	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													57.0	61.0	59.0					10																	102789858		2203	4300	6503	SO:0001583	missense	79955			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		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	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	34	35	34
DPY19L2	283417	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													49.0	51.0	50.0					12																	63994085		2201	4295	6496	SO:0001630	splice_region_variant	283417				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			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	29	43	29	43
PRMT5	10419	hgsc.bcm.edu;broad.mit.edu;ucsc.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	RBM23_ENST00000556984.1_5'Flank|PRMT5_ENST00000216350.8_Missense_Mutation_p.V560I|PRMT5-AS1_ENST00000590290.1_RNA|RBM23_ENST00000359890.3_5'Flank|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V450I|PRMT5_ENST00000538452.1_Missense_Mutation_p.V515I|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|RBM23_ENST00000346528.5_5'Flank|RBM23_ENST00000555209.1_5'Flank|RBM23_ENST00000399922.2_5'Flank|PRMT5_ENST00000553897.1_Missense_Mutation_p.V577I|PRMT5_ENST00000397441.2_Missense_Mutation_p.V604I|PRMT5-AS1_ENST00000595662.1_RNA|RBM23_ENST00000542016.2_5'Flank	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																																																0													156.0	124.0	135.0					14																	23390166		2203	4300	6503	SO:0001583	missense	10419			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		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	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			17	31	17	31
FAM64A	54478	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000576056.1_Missense_Mutation_p.R71C|FAM64A_ENST00000572447.1_Missense_Mutation_p.R71C|FAM64A_ENST00000570337.2_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																																																0								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				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		Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	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	48	20	48
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													48.0	52.0	51.0					17																	18052562		2039	4178	6217	SO:0001583	missense	51168			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		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	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		12	18	12	18
SLFN12	55106	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000452764.3_Silent_p.S514S|SLFN12_ENST00000460530.1_5'UTR|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000304905.5_Silent_p.S514S			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																																																0								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			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			A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	CCDS11295.1																																																																																				0.393	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		26	47	26	47
KLHL26	55295	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													19.0	19.0	19.0					19																	18779269		2129	4175	6304	SO:0001819	synonymous_variant	55295				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			Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	CCDS12384.1																																																																																				0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		9	23	9	23
ANKRD27	84079	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													153.0	147.0	149.0					19																	33096834		2203	4300	6503	SO:0001819	synonymous_variant	84079			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			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	CCDS32986.1																																																																																				0.473	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		16	16	16	16
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000160740.3_Missense_Mutation_p.F1482V|CIC_ENST00000572681.2_Missense_Mutation_p.F2390V	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																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													83.0	83.0	83.0					19																	42798878		2203	4300	6503	SO:0001583	missense	23152			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		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	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			35	12	35	12
ZNF347	84671	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000452676.2_Missense_Mutation_p.V823M|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.V823M	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)											0								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			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		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	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		56	31	56	31
FUBP1	8880	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													49.0	51.0	50.0					1																	78425869		2203	4300	6503	SO:0001630	splice_region_variant	8880			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			Q12828	Splice_Site	SNP	ENST00000370768.2	37	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	18	14	18
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													83.0	78.0	79.0					2																	21234703		2203	4300	6503	SO:0001819	synonymous_variant	338			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			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			30	66	30	66
OTOF	9381	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000338581.6_Missense_Mutation_p.G378A|OTOF_ENST00000402415.3_Missense_Mutation_p.G435A|OTOF_ENST00000403946.3_Missense_Mutation_p.G1125A|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)											0													62.0	63.0	63.0					2																	26696893		2203	4299	6502	SO:0001583	missense	9381			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		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	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	44	20	44
ARHGEF4	50649	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000409303.1_Missense_Mutation_p.Q573K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q562K|ARHGEF4_ENST00000428230.2_Intron	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																																																0													73.0	61.0	65.0					2																	131802995		2203	4300	6503	SO:0001583	missense	50649			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		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	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			20	41	20	41
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.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)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	49	27	49
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000451903.2_Silent_p.G241G|CPS1_ENST00000430249.2_Silent_p.G698G	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																																																0													166.0	142.0	150.0					2																	211471549		2203	4300	6503	SO:0001819	synonymous_variant	1373			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			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.478	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			37	34	37	34
CCDC108	255101	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000441968.1_Silent_p.L151L|CCDC108_ENST00000410037.1_Silent_p.L86L|CCDC108_ENST00000409865.3_Silent_p.L140L|CCDC108_ENST00000295729.2_Silent_p.L86L|CCDC108_ENST00000453220.1_Silent_p.L151L|CCDC108_ENST00000324264.6_Silent_p.L86L	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																																																0													172.0	157.0	162.0					2																	219900291		2203	4300	6503	SO:0001819	synonymous_variant	255101			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			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.502	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		62	79	62	79
ADAMTS9	56999	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													73.0	74.0	73.0					3																	64607885		2203	4300	6503	SO:0001583	missense	56999			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		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	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			32	26	32	26
HK3	3101	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													210.0	163.0	179.0					5																	176310845		2203	4300	6503	SO:0001583	missense	3101				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		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	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	102	11	102
ATXN1	6310	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													33.0	35.0	34.0					6																	16327718		2203	4300	6503	SO:0001583	missense	6310			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		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	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		11	18	11	18
THEMIS	387357	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000368250.1_Silent_p.E454E|THEMIS_ENST00000543064.1_Silent_p.E533E	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																																																0								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			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			A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	CCDS34534.1																																																																																				0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		45	65	45	65
STOM	2040	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													124.0	107.0	113.0					9																	124111437		2203	4300	6503	SO:0001583	missense	2040				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		B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	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		19	10	19	10
PRRC2B	84726	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													72.0	75.0	74.0					9																	134349974		1875	4113	5988	SO:0001583	missense	84726			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		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	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	29	5	29
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													120.0	95.0	103.0					X																	53618082		2203	4300	6503	SO:0001630	splice_region_variant	10075			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			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	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	19	14	19
ACRC	93953	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0								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			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		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	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			117	154	117	154
JMJD1C	221037	broad.mit.edu;ucsc.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_ENST00000542921.1_Missense_Mutation_p.R97C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R60C	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																																																0													228.0	196.0	206.0					10																	64975203		1909	4126	6035	SO:0001583	missense	221037			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		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	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		60	78	60	78
PCSK2	5126	broad.mit.edu;ucsc.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																																																0													119.0	110.0	113.0					20																	17240949		2203	4300	6503	SO:0001583	missense	5126			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		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	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		42	54	42	54
FUS	2521	broad.mit.edu;hgsc.bcm.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_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_In_Frame_Del_p.N286del|FUS_ENST00000380244.3_In_Frame_Del_p.N284del	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"""																																		Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0																																										SO:0001651	inframe_deletion	2521			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		Q9H4A8	In_Frame_Del	DEL	ENST00000254108.7	37	CCDS10707.1																																																																																				0.374	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		46	184	46	184
