#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
SRRM2	23524	broad.mit.edu	37	16	2814039	2814039	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2814039A>T	ENST00000301740.8	+	11	4059	c.3510A>T	c.(3508-3510)ttA>ttT	p.L1170F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1170	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAATGGCCTTACCCCCTCAGG	0.463																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3508-3510)ttA>ttT		serine/arginine repetitive matrix 2							102.0	106.0	104.0					16																	2814039		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814039A>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3510A>T	16.37:g.2814039A>T	ENSP00000301740:p.Leu1170Phe						p.L1170F	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	4059	+			1170			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3510A>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	3.545	-0.092958	0.07053	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.93547	-3.24	5.92	-2.49	0.06403	.	0.658134	0.14264	N	0.330620	D	0.85097	0.5619	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73557	-0.3945	10	0.59425	D	0.04	-0.3025	7.9568	0.30047	0.4077:0.4591:0.1332:0.0	.	1170	Q9UQ35	SRRM2_HUMAN	F	1170;1170;422	ENSP00000301740:L1170F	ENSP00000301740:L1170F	L	+	3	2	SRRM2	2754040	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.178000	0.09782	-0.425000	0.07371	-0.313000	0.08912	TTA		0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			45	68	0	0	0	1	0	45	68				
ZMIZ1	57178	broad.mit.edu	37	10	81052015	81052015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr10:81052015G>A	ENST00000334512.5	+	11	1431	c.859G>A	c.(859-861)Gca>Aca	p.A287T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	287	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			tgcagcagcggcagtggcagc	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(859-861)Gca>Aca		zinc finger, MIZ-type containing 1							41.0	47.0	45.0					10																	81052015		1667	3444	5111	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052015G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.859G>A	10.37:g.81052015G>A	ENSP00000334474:p.Ala287Thr					ZMIZ1_ENST00000478357.1_3'UTR	p.A287T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1431	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		287			Ala-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.859G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369631	0.95900	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.42513	0.97	5.16	5.16	0.70880	.	0.000000	0.39475	U	0.001341	T	0.64394	0.2594	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.81914	0.995;0.977	T	0.67348	-0.5693	10	0.66056	D	0.02	-5.4813	18.2632	0.90043	0.0:0.0:1.0:0.0	.	197;287	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	287;217;193	ENSP00000334474:A287T	ENSP00000334474:A287T	A	+	1	0	ZMIZ1	80722021	0.998000	0.40836	0.997000	0.53966	0.880000	0.50808	3.249000	0.51437	2.399000	0.81585	0.563000	0.77884	GCA		0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	87	0	0	0	1	0	9	87				
DCTD	1635	broad.mit.edu	37	4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr4:183815663C>T	ENST00000438320.2	-	4	630	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_ENST00000357067.3_Missense_Mutation_p.A125T|DCTD_ENST00000510370.1_Missense_Mutation_p.A114T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	114					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.A114T(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	ATGAGCTTAGCGCATTCATTA	0.468																																						ENST00000438320.2																			1	Substitution - Missense(1)	p.A114T(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18						c.(340-342)Gct>Act		dCMP deaminase							167.0	132.0	144.0					4																	183815663		2203	4300	6503	SO:0001583	missense	1635				nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	g.chr4:183815663C>T	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.340G>A	4.37:g.183815663C>T	ENSP00000398194:p.Ala114Thr					DCTD_ENST00000510370.1_Missense_Mutation_p.A114T|DCTD_ENST00000357067.3_Missense_Mutation_p.A125T	p.A114T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	4	630	-		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)	114					B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	c.340G>A	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508118	0.64410	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.53	4.68	0.58851	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.987	P;P;P;P	0.62298	0.884;0.9;0.629;0.681	T	0.58853	-0.7563	10	0.44086	T	0.13	-4.8643	14.7527	0.69540	0.0:0.9293:0.0:0.0707	.	114;55;125;114	D6RBJ9;B4DDC2;P32321-2;P32321	.;.;.;DCTD_HUMAN	T	125;114;114;114;114;114	ENSP00000349576:A125T;ENSP00000398194:A114T;ENSP00000424017:A114T;ENSP00000422662:A114T;ENSP00000424050:A114T;ENSP00000423182:A114T	ENSP00000349576:A125T	A	-	1	0	DCTD	184052657	1.000000	0.71417	0.988000	0.46212	0.261000	0.26267	7.776000	0.85560	2.602000	0.87976	0.650000	0.86243	GCT		0.468	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			11	22	0	0	0	1	0	11	22				
ALPK2	115701	broad.mit.edu	37	18	56203279	56203279	+	Silent	SNP	T	T	C	rs36075387	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr18:56203279T>C	ENST00000361673.3	-	5	4353	c.4140A>G	c.(4138-4140)caA>caG	p.Q1380Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1380						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCATCTTGAGTTGTTTTTCCT	0.413													t|||	2	0.000399361	0.0	0.0	5008	,	,		20519	0.0		0.001	False		,,,				2504	0.001					ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(4138-4140)caA>caG		alpha-kinase 2				0,4406		0,0,2203	108.0	107.0	107.0		4140	-6.3	0.0	18	dbSNP_126	107	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous	ALPK2	NM_052947.3		0,20,6483	CC,CT,TT		0.2326,0.0,0.1538		1380/2171	56203279	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203279T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4140A>G	18.37:g.56203279T>C						RP11-1151B14.4_ENST00000591360.1_RNA	p.Q1380Q	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4353	-			1380					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.4140A>G	CCDS11966.2																																																																																				0.413	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	98	0	0	0	1	0	4	98				
WIF1	11197	broad.mit.edu	37	12	65460426	65460426	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:65460426T>C	ENST00000286574.4	-	6	1099	c.725A>G	c.(724-726)gAc>gGc	p.D242G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	242	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GTTACCTTTGTCACAGTTCAC	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(724-726)gAc>gGc		WNT inhibitory factor 1							67.0	68.0	67.0					12																	65460426		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65460426T>C	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.725A>G	12.37:g.65460426T>C	ENSP00000286574:p.Asp242Gly						p.D242G	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	6	1099	-			242			EGF-like 2.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.725A>G	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953367	0.73902	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	T;T	0.62941	2.97;-0.01	5.23	5.23	0.72850	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.237275	0.41001	D	0.000971	T	0.59810	0.2221	L	0.33293	1	0.80722	D	1	P	0.49090	0.919	P	0.48982	0.597	T	0.58137	-0.7689	9	.	.	.	.	15.8274	0.78725	0.0:0.0:0.0:1.0	.	242	Q9Y5W5	WIF1_HUMAN	G	242;5	ENSP00000286574:D242G;ENSP00000439024:D5G	.	D	-	2	0	WIF1	63746693	1.000000	0.71417	0.997000	0.53966	0.830000	0.47004	6.306000	0.72810	2.279000	0.76181	0.533000	0.62120	GAC		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			4	29	0	0	0	1	0	4	29				
ANO4	121601	broad.mit.edu	37	12	101437335	101437335	+	Silent	SNP	T	T	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:101437335T>A	ENST00000392977.3	+	13	1383	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Silent_p.A356A			Q32M45	ANO4_HUMAN	anoctamin 4	391					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCCAAGCTACAGATATCA	0.373										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1066-1068)gcT>gcA		anoctamin 4							159.0	151.0	154.0					12																	101437335		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101437335T>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1173T>A	12.37:g.101437335T>A		HNSCC(74;0.22)				ANO4_ENST00000392977.3_Silent_p.A391A|ANO4_ENST00000299222.9_5'UTR	p.A356A	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			12	1429	+			391					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.1068T>A																																																																																					0.373	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		15	36	0	0	0	1	0	15	36				
RFPL3	10738	broad.mit.edu	37	22	32754036	32754036	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs11089557	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr22:32754036G>A	ENST00000249007.4	+	0	183				RFPL3_ENST00000397468.1_Intron|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3								zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAGTGACAAAGCTGGAACACA	0.453													g|||	723	0.144369	0.0303	0.0908	5008	,	,		20764	0.4544		0.0408	False		,,,				2504	0.1237					ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15								ret finger protein-like 3		G	,	162,4212		7,148,2032	95.0	94.0	94.0		,	-0.3	0.0	22	dbSNP_120	94	434,8150		11,412,3869	no	utr-5,intron	RFPL3	NM_001098535.1,NM_006604.2	,	18,560,5901	AA,AG,GG		5.0559,3.7037,4.5995	,	,	32754036	596,12362	2187	4292	6479			10738						zinc ion binding	g.chr22:32754036G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.-23G>A	22.37:g.32754036G>A						RFPL3_ENST00000397468.1_Intron		NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			0	183	+								A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Translation_Start_Site	SNP	ENST00000249007.4	37		CCDS43011.1																																																																																				0.453	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	109	0	0	0	1	0	4	109				
THBS2	7058	broad.mit.edu	37	6	169621604	169621604	+	Missense_Mutation	SNP	C	C	T	rs368075705		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:169621604C>T	ENST00000366787.3	-	21	3541	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1098	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCTGGGGTCGTGCCATAAG	0.562																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3292-3294)Gac>Aac		thrombospondin 2		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	152.0	124.0	133.0		3292	4.9	1.0	6		133	0,8600		0,0,4300	no	missense	THBS2	NM_003247.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1098/1173	169621604	1,13005	2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169621604C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3292G>A	6.37:g.169621604C>T	ENSP00000355751:p.Asp1098Asn					XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.D1098N	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	21	3541	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1098			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3292G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125553	0.94429	2.27E-4	0.0	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.93859	-3.3	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.42682	U	0.000664	D	0.96818	0.8961	M	0.87827	2.91	0.58432	D	0.999997	D	0.89917	1.0	D	0.73380	0.98	D	0.97570	1.0104	10	0.87932	D	0	-54.8362	18.1469	0.89661	0.0:1.0:0.0:0.0	.	1098	P35442	TSP2_HUMAN	N	1098;356	ENSP00000355751:D1098N	ENSP00000355751:D1098N	D	-	1	0	THBS2	169363529	1.000000	0.71417	0.974000	0.42286	0.839000	0.47603	7.276000	0.78559	2.267000	0.75376	0.579000	0.79373	GAC		0.562	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		4	61	0	0	0	1	0	4	61				
GRIA3	2892	broad.mit.edu	37	X	122616848	122616848	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:122616848T>A	ENST00000371251.1	+	15	2690	c.2638T>A	c.(2638-2640)Tac>Aac	p.Y880N	GRIA3_ENST00000371256.5_Missense_Mutation_p.Y880N|GRIA3_ENST00000264357.5_Missense_Mutation_p.Y880N|GRIA3_ENST00000542149.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	880					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTATGCTACATACAGAGAAGG	0.418																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2638-2640)Tac>Aac		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						118.0	103.0	108.0					X																	122616848		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616848T>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2638T>A	X.37:g.122616848T>A	ENSP00000360297:p.Tyr880Asn					GRIA3_ENST00000371256.5_Missense_Mutation_p.Y880N|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y880N|GRIA3_ENST00000542149.1_3'UTR	p.Y880N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			15	2930	+			880					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2638T>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034058	0.75504	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.13089	2.62;2.66;2.62	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.70595	2.14	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.78314	0.979;0.991	T	0.13335	-1.0513	10	0.72032	D	0.01	.	14.1842	0.65595	0.0:0.0:0.0:1.0	.	880;880	P42263;P42263-2	GRIA3_HUMAN;.	N	880	ENSP00000264357:Y880N;ENSP00000360302:Y880N;ENSP00000360297:Y880N	ENSP00000264357:Y880N	Y	+	1	0	GRIA3	122444529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.947000	0.56498	0.486000	0.48141	TAC		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		52	80	0	0	0	1	0	52	80				
AFF2	2334	broad.mit.edu	37	X	148037323	148037323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:148037323C>T	ENST00000370460.2	+	11	2227	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	AFF2_ENST00000286437.5_Missense_Mutation_p.P224L|AFF2_ENST00000342251.3_Missense_Mutation_p.P550L|AFF2_ENST00000370457.5_Missense_Mutation_p.P550L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	583					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGAACCCAAAGAAAGG	0.483																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1747-1749)cCc>cTc		AF4/FMR2 family, member 2							137.0	139.0	138.0					X																	148037323		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037323C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1748C>T	X.37:g.148037323C>T	ENSP00000359489:p.Pro583Leu					AFF2_ENST00000370457.5_Missense_Mutation_p.P550L|AFF2_ENST00000286437.5_Missense_Mutation_p.P224L|AFF2_ENST00000342251.3_Missense_Mutation_p.P550L	p.P583L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2227	+	Acute lymphoblastic leukemia(192;6.56e-05)		583					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1748C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786547	0.49997	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.5	4.63	0.57726	.	0.201874	0.42053	D	0.000764	T	0.58821	0.2149	L	0.38838	1.175	0.58432	D	0.999995	P;P;P;P;P;P	0.47484	0.896;0.873;0.873;0.873;0.873;0.896	P;B;B;B;B;P	0.49192	0.602;0.372;0.372;0.372;0.372;0.506	T	0.52457	-0.8573	10	0.16420	T	0.52	.	14.8368	0.70190	0.1449:0.8551:0.0:0.0	.	224;548;550;544;573;583	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	L	583;550;550;224	ENSP00000359489:P583L;ENSP00000359486:P550L;ENSP00000345459:P550L;ENSP00000286437:P224L	ENSP00000286437:P224L	P	+	2	0	AFF2	147845023	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	6.815000	0.75242	1.065000	0.40693	-0.301000	0.09380	CCC		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		87	117	0	0	0	1	0	87	117				
VSX1	30813	broad.mit.edu	37	20	25059381	25059381	+	Intron	SNP	A	A	T	rs56157240	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr20:25059381A>T	ENST00000376709.4	-	3	891				VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000376707.3_Silent_p.P237P|VSX1_ENST00000429762.3_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1						neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GCTATAGAGAAGGGACTGCTG	0.512													A|||	1455	0.290535	0.4992	0.3516	5008	,	,		18538	0.0268		0.2207	False		,,,				2504	0.3088					ENST00000376707.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)	6						c.(709-711)ccT>ccA		visual system homeobox 1		A	,	1132,1522		244,644,439	164.0	153.0	157.0		,711	0.9	0.0	20	dbSNP_129	157	1061,3557		130,801,1378	no	intron,coding-synonymous	VSX1	NM_014588.4,NM_199425.1	,	374,1445,1817	TT,TA,AA		22.9753,42.6526,30.1568	,	,237/240	25059381	2193,5079	1327	2309	3636	SO:0001627	intron_variant	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25059381A>T	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.627+83T>A	20.37:g.25059381A>T						VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000376709.4_Intron	p.P237P	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN			3	745	-			0			CVC.		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	c.711T>A	CCDS13168.1																																																																																				0.512	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			5	110	0	0	0	1	0	5	110				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			26	28	0	0	0	1	0	26	28				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	32	0	0	0	1	0	4	32				
FUNDC2P2	388965	broad.mit.edu	37	2	84518074	84518074	+	RNA	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:84518074C>T	ENST00000331369.5	+	0	268									FUN14 domain containing 2 pseudogene 2																		AAAAGTATAGCGTGGCAACCC	0.512																																						ENST00000331369.5																			0																																																			0							g.chr2:84518074C>T			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518074C>T														0	268	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.512	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		42	53	0	0	0	1	0	42	53				
OGT	8473	broad.mit.edu	37	X	70793627	70793627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:70793627G>A	ENST00000373719.3	+	22	3341	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	OGT_ENST00000373701.3_Missense_Mutation_p.V1032I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1042					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCTGTTGAAGTCACTGAGTC	0.443																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3124-3126)Gtc>Atc		O-linked N-acetylglucosamine (GlcNAc) transferase							81.0	62.0	68.0					X																	70793627		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70793627G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.3124G>A	X.37:g.70793627G>A	ENSP00000362824:p.Val1042Ile					OGT_ENST00000373701.3_Missense_Mutation_p.V1032I	p.V1042I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			22	3341	+	Renal(35;0.156)		1042					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.3124G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512812	0.27123	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.71698	-0.58;-0.59	4.84	4.84	0.62591	.	0.291295	0.38326	N	0.001728	T	0.48519	0.1504	N	0.08118	0	0.22185	N	0.999302	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.16289	0.002;0.015;0.004	T	0.39187	-0.9626	10	0.52906	T	0.07	-8.937	8.3889	0.32516	0.1772:0.0:0.8228:0.0	.	916;1032;1042	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	I	1042;1032	ENSP00000362824:V1042I;ENSP00000362805:V1032I	ENSP00000362805:V1032I	V	+	1	0	OGT	70710352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.939000	0.40213	2.376000	0.81061	0.600000	0.82982	GTC		0.443	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		5	15	0	0	0	1	0	5	15				
ANAPC15	25906	broad.mit.edu	37	11	71821621	71821621	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr11:71821621T>C	ENST00000227618.4	-	4	374	c.149A>G	c.(148-150)aAc>aGc	p.N50S	ANAPC15_ENST00000535503.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000545944.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000543050.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000545680.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000542531.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000502597.2_5'UTR|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000535234.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000543587.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000538393.1_Missense_Mutation_p.N50S	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	50					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											AGGAACCAGGTTGTTGTCTTT	0.597																																						ENST00000227618.4																			0											c.(148-150)aAc>aGc		anaphase promoting complex subunit 15							117.0	104.0	109.0					11																	71821621		2200	4293	6493	SO:0001583	missense	25906							g.chr11:71821621T>C	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.149A>G	11.37:g.71821621T>C	ENSP00000227618:p.Asn50Ser					ANAPC15_ENST00000545680.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000542531.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538393.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000545944.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000543587.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000535503.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000543050.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000535234.1_Missense_Mutation_p.N50S	p.N50S	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1					4	374	-								G3V1Q3|Q9CXK2|Q9Y269	Missense_Mutation	SNP	ENST00000227618.4	37	c.149A>G	CCDS8210.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528172	0.64860	.	.	ENSG00000110200	ENST00000543050;ENST00000543587;ENST00000545680;ENST00000227618;ENST00000542531;ENST00000535234;ENST00000545944;ENST00000538393;ENST00000535503;ENST00000538919;ENST00000537644;ENST00000438939;ENST00000545333	T	0.65549	-0.16	4.13	4.13	0.48395	.	0.102307	0.64402	D	0.000003	T	0.49029	0.1533	L	0.42245	1.32	0.40806	D	0.983389	B;B;P	0.39181	0.376;0.0;0.663	B;B;B	0.37731	0.163;0.004;0.257	T	0.51919	-0.8644	10	0.44086	T	0.13	.	5.3619	0.16093	0.0:0.2005:0.0:0.7995	.	50;50;50	G5EA39;P60006;G3V1Q3	.;CK051_HUMAN;.	S	50	ENSP00000437360:N50S	ENSP00000227618:N50S	N	-	2	0	C11orf51	71499269	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.500000	0.53318	1.865000	0.54081	0.460000	0.39030	AAC		0.597	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		26	36	0	0	0	1	0	26	36				
PRUNE2	158471	broad.mit.edu	37	9	79324331	79324331	+	Silent	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr9:79324331G>A	ENST00000376718.3	-	8	2982	c.2859C>T	c.(2857-2859)aaC>aaT	p.N953N	PRUNE2_ENST00000428286.1_Silent_p.N594N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	953					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCTAGGTTGGATGCAC	0.423																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(1780-1782)aaC>aaT		prune homolog 2 (Drosophila)							175.0	163.0	166.0					9																	79324331		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324331G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2859C>T	9.37:g.79324331G>A						PRUNE2_ENST00000376718.3_Silent_p.N953N	p.N594N			Q8WUY3	PRUN2_HUMAN			8	2982	-			953					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.1782C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.172	-1.070188	0.01918	.	.	ENSG00000106772	ENST00000426088	.	.	.	6.04	-3.03	0.05429	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.61888	-0.6970	4	.	.	.	-23.8409	13.1629	0.59554	0.7975:0.0:0.2025:0.0	.	.	.	.	S	275	.	.	P	-	1	0	PRUNE2	78514151	0.000000	0.05858	0.011000	0.14972	0.615000	0.37417	-0.493000	0.06459	-0.420000	0.07427	-0.254000	0.11334	CCT		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	127	0	0	0	1	0	10	127				
CUL4B	8450	broad.mit.edu	37	X	119708422	119708422	+	Silent	SNP	A	A	G			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:119708422A>G	ENST00000404115.3	-	2	452	c.51T>C	c.(49-51)acT>acC	p.T17T	CUL4B_ENST00000486604.1_5'UTR	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	17	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTAGAGGTAGTAGCCTCAT	0.448													A|||	1	0.000264901	0.0008	0.0	3775	,	,		14006	0.0		0.0	False		,,,				2504	0.0					ENST00000404115.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(49-51)acT>acC		cullin 4B							193.0	154.0	167.0					X																	119708422		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119708422A>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.51T>C	X.37:g.119708422A>G						CUL4B_ENST00000486604.1_5'UTR	p.T17T	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN			2	452	-			17			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.51T>C	CCDS35379.1																																																																																				0.448	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		4	110	0	0	0	1	0	4	110				
GPANK1	7918	broad.mit.edu	37	6	31630129	31630129	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:31630129G>C	ENST00000375906.1	-	4	1669	c.985C>G	c.(985-987)Ctg>Gtg	p.L329V	C6orf47_ENST00000375911.1_5'Flank|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.L329V|GPANK1_ENST00000375900.4_Missense_Mutation_p.L329V|GPANK1_ENST00000375895.2_Missense_Mutation_p.L329V|GPANK1_ENST00000375893.2_Missense_Mutation_p.L329V|CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	329							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTCCAGCTCAGTGTGGCCACC	0.577																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(985-987)Ctg>Gtg		G patch domain and ankyrin repeats 1							101.0	98.0	99.0					6																	31630129		1511	2708	4219	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31630129G>C		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.985C>G	6.37:g.31630129G>C	ENSP00000365071:p.Leu329Val					GPANK1_ENST00000375896.4_Missense_Mutation_p.L329V|GPANK1_ENST00000375893.2_Missense_Mutation_p.L329V|GPANK1_ENST00000375895.2_Missense_Mutation_p.L329V|GPANK1_ENST00000375900.4_Missense_Mutation_p.L329V	p.L329V	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1669	-			329					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.985C>G	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894003	0.33442	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	5.0	3.04	0.35103	.	0.336763	0.24492	N	0.038045	T	0.03827	0.0108	M	0.67953	2.075	0.21020	N	0.9998	B	0.30793	0.295	B	0.26310	0.068	T	0.28870	-1.0030	10	0.38643	T	0.18	-7.569	4.811	0.13344	0.1028:0.0:0.5094:0.3878	.	329	O95872	GPAN1_HUMAN	V	329	ENSP00000365071:L329V;ENSP00000365060:L329V;ENSP00000365057:L329V;ENSP00000365059:L329V;ENSP00000365065:L329V	ENSP00000365057:L329V	L	-	1	2	GPANK1	31738108	0.216000	0.23585	0.979000	0.43373	0.164000	0.22412	0.618000	0.24373	1.318000	0.45170	0.655000	0.94253	CTG		0.577	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		29	66	0	0	0	1	0	29	66				
NIPBL	25836	broad.mit.edu	37	5	36961657	36961657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:36961657C>T	ENST00000282516.8	+	5	929	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q144*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	144					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATTATCAACAAACCACTAT	0.338																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(430-432)Caa>Taa		Nipped-B homolog (Drosophila)							138.0	134.0	135.0					5																	36961657		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36961657C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.430C>T	5.37:g.36961657C>T	ENSP00000282516:p.Gln144*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q144*|NIPBL_ENST00000504430.1_3'UTR	p.Q144*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		5	929	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		144					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.430C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	41	9.022806	0.99038	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.01	5.01	0.66863	.	0.136446	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.0853	0.59138	0.0:0.9197:0.0:0.0803	.	.	.	.	X	144	.	ENSP00000282516:Q144X	Q	+	1	0	NIPBL	36997414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.978000	0.49305	2.481000	0.83766	0.655000	0.94253	CAA		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		33	57	0	0	0	1	0	33	57				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	23	0	0	0	1	0	6	23				
SLC47A1	55244	broad.mit.edu	37	17	19459308	19459308	+	Splice_Site	SNP	G	G	A	rs201666623		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:19459308G>A	ENST00000270570.4	+	10	940	c.854G>A	c.(853-855)gGc>gAc	p.G285D	SLC47A1_ENST00000575023.1_Intron|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000457293.1_Splice_Site_p.G285D|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000436810.2_Splice_Site_p.G262D|SLC47A1_ENST00000395585.1_Splice_Site_p.G285D|SLC47A1_ENST00000571335.1_Splice_Site_p.G90D	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	285					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCTTCACCAGGCATCCTCGGC	0.592																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e10-1		solute carrier family 47 (multidrug and toxin extrusion), member 1							77.0	67.0	70.0					17																	19459308		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459308G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.854-1G>A	17.37:g.19459308G>A						SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Splice_Site_p.G90_splice|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000395585.1_Splice_Site_p.G285_splice|SLC47A1_ENST00000436810.2_Splice_Site_p.G262_splice|SLC47A1_ENST00000457293.1_Splice_Site_p.G285_splice	p.G285_splice	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			10	940	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		285					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37	c.853_splice	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060993	0.93846	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	H	0.99435	4.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;0.998;0.998	D;D;D;D;D	0.83275	0.996;0.975;0.993;0.989;0.981	D	0.88288	0.2941	9	.	.	.	.	18.4824	0.90817	0.0:0.0:1.0:0.0	.	19;262;19;285;285	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	D	262;285;285;285;19	ENSP00000407155:G262D;ENSP00000270570:G285D;ENSP00000415586:G285D;ENSP00000378951:G285D	.	G	+	2	0	SLC47A1	19399900	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	8.865000	0.92300	2.602000	0.87976	0.655000	0.94253	GGC		0.592	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Missense_Mutation	3	38	0	0	0	1	0	3	38				
LRRC37A11P	342666	broad.mit.edu	37	17	37187191	37187191	+	RNA	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:37187191G>A	ENST00000425901.2	+	0	1033					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GGGACTTACCGTCACTCCAAA	0.498																																						ENST00000425901.2																			0																																																			0							g.chr17:37187191G>A			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187191G>A								NR_033753.2						0	1033	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.498	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		15	15	0	0	0	1	0	15	15				
SLC9A6	10479	broad.mit.edu	37	X	135106545	135106545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:135106545C>T	ENST00000370698.3	+	12	1458	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	SLC9A6_ENST00000370695.4_Missense_Mutation_p.R507W|SLC9A6_ENST00000370701.1_Missense_Mutation_p.R455W	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	475					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACTTATGCACGGCAAATGAT	0.463																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1519-1521)Cgg>Tgg		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							299.0	203.0	235.0					X																	135106545		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106545C>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1423C>T	X.37:g.135106545C>T	ENSP00000359732:p.Arg475Trp					SLC9A6_ENST00000370698.3_Missense_Mutation_p.R475W|SLC9A6_ENST00000370701.1_Missense_Mutation_p.R455W	p.R507W	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			12	1554	+	Acute lymphoblastic leukemia(192;0.000127)		475					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1519C>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764455	0.69878	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.18338	2.22;2.22;2.22	5.27	3.28	0.37604	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.58411	-0.7641	10	0.87932	D	0	.	12.856	0.57886	0.3403:0.6597:0.0:0.0	.	507;475	Q92581-2;Q92581	.;SL9A6_HUMAN	W	455;475;507	ENSP00000359735:R455W;ENSP00000359732:R475W;ENSP00000359729:R507W	ENSP00000359729:R507W	R	+	1	2	SLC9A6	134934211	0.618000	0.27051	0.254000	0.24359	0.979000	0.70002	1.299000	0.33424	0.974000	0.38366	-0.232000	0.12228	CGG		0.463	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		6	81	0	0	0	1	0	6	81				
EPRS	2058	broad.mit.edu	37	1	220203735	220203735	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:220203735C>A	ENST00000366923.3	-	6	885	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	206	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TACCCACTGGCCTCTGGAGGA	0.358																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(616-618)Gcc>Tcc		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						75.0	75.0	75.0					1																	220203735		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220203735C>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.616G>T	1.37:g.220203735C>A	ENSP00000355890:p.Ala206Ser						p.A206S	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	6	885	-			206			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.616G>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599121	0.96614	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.21932	1.98	5.83	5.83	0.93111	Aminoacyl-tRNA synthetase, class I, conserved site (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.90019	3.08	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.71656	0.974;0.969	T	0.63060	-0.6721	10	0.62326	D	0.03	-26.2935	20.1184	0.97949	0.0:1.0:0.0:0.0	.	206;206	Q3KQZ8;P07814	.;SYEP_HUMAN	S	206	ENSP00000355890:A206S	ENSP00000355890:A206S	A	-	1	0	EPRS	218270358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.422000	0.80217	2.769000	0.95229	0.655000	0.94253	GCC		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		3	46	1	0	1	1	1	3	46				
TBC1D24	57465	broad.mit.edu	37	16	2550805	2550805	+	Splice_Site	SNP	G	G	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2550805G>T	ENST00000293970.5	+	8	1659	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	TBC1D24_ENST00000567020.1_Splice_Site_p.G503V|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.G509V	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	509	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.e7-1		TBC1 domain family, member 24							27.0	35.0	32.0					16																	2550805		2156	4235	6391	SO:0001630	splice_region_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550805G>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1526-1G>T	16.37:g.2550805G>T						TBC1D24_ENST00000434757.2_Splice_Site_p.G509_splice|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Splice_Site_p.G509_splice	p.G503_splice	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			7	1648	+			509			TLD.		A0JNW3|B9A6M6|Q2KJ08	Splice_Site	SNP	ENST00000293970.5	37	c.1507_splice	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052837	0.75960	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	D	0.96459	-4.02	5.79	5.79	0.91817	TLDc (2);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99494	1.0951	9	.	.	.	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	509;503	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	V	503;509	ENSP00000390106:G509V	.	G	+	2	0	TBC1D24	2490806	1.000000	0.71417	0.990000	0.47175	0.222000	0.24845	9.365000	0.97139	2.731000	0.93534	0.650000	0.86243	GGG		0.662	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	Missense_Mutation	3	16	1	0	0.004672	1	0.0049056	3	16				
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	lincRNA	SNP	G	G	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGCTGCAGCTGACTCTGCAGC	0.677																																						ENST00000412962.1																			0																																																			0							g.chr1:16946471G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946471G>C														0	1048	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.677	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	11	0	0	0	1	0	5	11				
HID1	283987	broad.mit.edu	37	17	72959892	72959892	+	Silent	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:72959892C>T	ENST00000425042.2	-	3	407	c.330G>A	c.(328-330)gaG>gaA	p.E110E	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	110					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGTCGGGGTCCTCAAAGATGT	0.667																																						ENST00000425042.2																			0											c.(328-330)gaG>gaA		HID1 domain containing							37.0	35.0	36.0					17																	72959892		2203	4300	6503	SO:0001819	synonymous_variant	283987							g.chr17:72959892C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.330G>A	17.37:g.72959892C>T						HID1_ENST00000532900.1_5'UTR	p.E110E	NM_030630.2	NP_085133.1					3	407	-								Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	c.330G>A	CCDS32726.1																																																																																				0.667	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		3	30	0	0	0	1	0	3	30				
JAK1	3716	broad.mit.edu	37	1	65303662	65303662	+	Silent	SNP	A	A	G	rs17392258	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:65303662A>G	ENST00000342505.4	-	22	3341	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1031	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATACTCCTTATCGGTTTCAA	0.423			Mis		ALL								A|||	50	0.00998403	0.0	0.0014	5008	,	,		19119	0.0		0.002	False		,,,				2504	0.0481					ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3091-3093)gaT>gaC		Janus kinase 1		A		1,3769		0,1,1884	84.0	77.0	80.0		3093	-4.3	0.5	1	dbSNP_123	80	9,8233		0,9,4112	no	coding-synonymous	JAK1	NM_002227.2		0,10,5996	GG,GA,AA		0.1092,0.0265,0.0833		1031/1155	65303662	10,12002	1885	4121	6006	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303662A>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3093T>C	1.37:g.65303662A>G							p.D1031D	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3341	-			1031			Protein kinase 2.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.3093T>C	CCDS41346.1																																																																																				0.423	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	43	0	0	0	1	0	4	43				
SLC22A5	6584	broad.mit.edu	37	5	131722739	131722739	+	Missense_Mutation	SNP	T	T	G	rs72552729		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:131722739T>G	ENST00000245407.3	+	5	1068	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	SLC22A5_ENST00000435065.2_Missense_Mutation_p.W307G	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	283			W -> C (in CDSP; reduces L-carnitine uptake). {ECO:0000269|PubMed:10545605}.|W -> R (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:10612840, ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GTCCCCCCGATGGCTCATCTC	0.557											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM061981|CM993369	SLC22A5	M	rs72552729	c.(847-849)Tgg>Ggg		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						242.0	226.0	232.0					5																	131722739		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722739T>G	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.847T>G	5.37:g.131722739T>G	ENSP00000245407:p.Trp283Gly		OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Missense_Mutation_p.W307G	p.W283G	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1068	+		all_cancers(142;0.0751)|Breast(839;0.198)	283		W -> C (in CDSP; reduces L-carnitine uptake).|W -> R (in CDSP).			A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.847T>G	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407812	0.83340	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.78126	-1.15;-1.15;-1.15	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96042	0.9025	10	0.87932	D	0	.	15.4222	0.75022	0.0:0.0:0.0:1.0	.	307;283	A2Q0V1;O76082	.;S22A5_HUMAN	G	283;307;206	ENSP00000245407:W283G;ENSP00000402760:W307G;ENSP00000388838:W206G	ENSP00000245407:W283G	W	+	1	0	SLC22A5	131750638	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	7.628000	0.83189	2.048000	0.60808	0.460000	0.39030	TGG		0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		78	137	0	0	0	1	0	78	137				
ATP6V1C2	245973	broad.mit.edu	37	2	10917798	10917798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:10917798C>T	ENST00000272238.4	+	11	1022	c.913C>T	c.(913-915)Cct>Tct	p.P305S	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	305					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCCTGATAGGCCTGCTGCGGG	0.587																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(913-915)Cct>Tct		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							90.0	91.0	91.0					2																	10917798		1900	4124	6024	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917798C>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.913C>T	2.37:g.10917798C>T	ENSP00000272238:p.Pro305Ser					ATP6V1C2_ENST00000381661.3_Intron	p.P305S	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1022	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		305					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.913C>T	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529795	0.45073	.	.	ENSG00000143882	ENST00000272238	T	0.39997	1.05	5.54	5.54	0.83059	.	0.000000	0.32608	U	0.005872	T	0.30230	0.0758	N	0.22421	0.69	0.80722	D	1	B	0.23128	0.08	B	0.19666	0.026	T	0.06752	-1.0809	10	0.23891	T	0.37	-12.5675	14.9822	0.71319	0.0:1.0:0.0:0.0	.	305	Q8NEY4	VATC2_HUMAN	S	305	ENSP00000272238:P305S	ENSP00000272238:P305S	P	+	1	0	ATP6V1C2	10835249	0.970000	0.33590	0.999000	0.59377	0.805000	0.45488	2.107000	0.41844	2.578000	0.87016	0.591000	0.81541	CCT		0.587	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		30	53	0	0	0	1	0	30	53				
ARID1A	8289	broad.mit.edu	37	1	27106319	27106320	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:27106319_27106320delTT	ENST00000324856.7	+	20	6301_6302	c.5930_5931delTT	c.(5929-5931)cttfs	p.L1977fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.L1594fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.L1760fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.L305fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1977					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGATTCTCTTGCCAAGCGCT	0.545			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5929-5931)cfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106319_27106320delTT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5930_5931delTT	1.37:g.27106319_27106320delTT	ENSP00000320485:p.Leu1977fs					ARID1A_ENST00000374152.2_Frame_Shift_Del_p.L1594fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.L305fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.L1760fs	p.L1977fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6301_6302	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1977					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.5930_5931delTT	CCDS285.1																																																																																				0.545	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		30	30						30	30	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247013166	247013167	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:247013166_247013167insT	ENST00000391829.2	-	33	6264_6265	c.6141_6142insA	c.(6139-6144)aaacttfs	p.L2048fs	AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.L2057fs|AHCTF1_ENST00000366508.1_Frame_Shift_Ins_p.L2083fs|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2048	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTTTGTAAGTTTTTTCTTAG	0.366																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6244-6249)aattacfs		AT hook containing transcription factor 1																																				SO:0001589	frameshift_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013166_247013167insT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6142dupA	1.37:g.247013172_247013172dupT	ENSP00000375705:p.Leu2048fs					AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.NY2056fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.NY2047fs	p.NY2082fs			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6382_6383	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2047			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Ins	INS	ENST00000391829.2	37	c.6246_6247insA																																																																																					0.366	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		14	98						14	98	---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134222395	134222396	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr7:134222395_134222396insA	ENST00000359579.4	+	7	1043_1044	c.723_724insA	c.(724-726)aaafs	p.K242fs		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	242					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCGC	0.446																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(721-726)caaaaafs		aldo-keto reductase family 1, member B10 (aldose reductase)																																				SO:0001589	frameshift_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222395_134222396insA	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.730dupA	7.37:g.134222402_134222402dupA	ENSP00000352584:p.Lys242fs						p.QK241fs	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN			7	1043_1044	+			241					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Frame_Shift_Ins	INS	ENST00000359579.4	37	c.723_724insA	CCDS5832.1																																																																																				0.446	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		8	145						8	145	---	---	---	---
TRDC	28526	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr14:22933391delC	ENST00000390477.2	+	0	465				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TTAGAAATGGCTAAGAAACCA	0.408													-|C|-|insertion	491	0.0980431	0.1067	0.1167	5008	,	,		20151	0.005		0.1541	False		,,,				2504	0.1115					ENST00000514473.2																			0																																																			0							g.chr14:22933391delC	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933391delC						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	DEL	ENST00000390477.2	37																																																																																						0.408	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		6	2						6	2	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142442	21142442	+	RNA	DEL	A	A	-	rs113752643|rs570165711	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr20:21142442delA	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TCATTTCTGGAAAAAAAAAAA	0.363																																						ENST00000591761.1																			0																																																			0							g.chr20:21142442delA																													20.37:g.21142442delA						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.363	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			5	6						5	6	---	---	---	---
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198|rs540642647|rs68023760|rs55861500	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr22:42537119_42537120insA	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000358097.4_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GGGCTACCACCGGGGCTGATGC	0.614														2230	0.445288	0.202	0.4697	5008	,	,		12179	0.748		0.494	False		,,,				2504	0.3947					ENST00000435101.1																			0				endometrium(1)	1																																														0							g.chr22:42537119_42537120insA	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537119_42537120insA						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	296	-									RNA	INS	ENST00000416037.2	37																																																																																						0.614	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		2	4						2	4	---	---	---	---
