### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MTAP)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"MTAP"	"methylthioadenosine phosphorylase"	"9"	"p21"	"unknown"	"NG_032650.1"	"UD_132438599137"	""	"https://www.LOVD.nl/MTAP"	""	"1"	"7413"	"4507"	"156540"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/MTAP_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2012-04-18 00:00:00"	"00006"	"2017-07-04 21:00:47"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00013999"	"MTAP"	"methylthioadenosine phosphorylase"	"001"	"NM_002451.3"	""	"NP_002442.2"	""	""	""	"-113"	"4809"	"852"	"21802635"	"21865970"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00674"	"BBDS"	"dysplasia, bent bone syndrome (BBDS)"	"AD"	"614592"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04582"	"DMSMFH"	"stenosis, medullary, diaphyseal, with malignant fibrous histiocytoma (DMSMFH)"	"AD"	"112250"	""	""	""	"00000"	"2015-09-23 10:25:23"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"MTAP"	"04582"


## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00107908"	""	""	""	"1"	""	"00006"	"{PMID:Camacho-Vanegas 2012:22464254}"	""	"M"	""	"Australia"	""	"0"	""	""	""	""
"00107909"	""	""	""	"1"	""	"00006"	"{PMID:Camacho-Vanegas 2012:22464254}"	""	"M"	""	""	""	"0"	""	""	""	""
"00107910"	""	""	""	"1"	""	"00006"	"{PMID:Camacho-Vanegas 2012:22464254}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00107911"	""	""	""	"1"	""	"00006"	"{PMID:Camacho-Vanegas 2012:22464254}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00107912"	""	""	""	"1"	""	"00006"	"{PMID:Camacho-Vanegas 2012:22464254}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00294831"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}"	"{{diseaseid}}"
"00107908"	"00674"
"00107909"	"00674"
"00107910"	"00674"
"00107911"	"00674"
"00107912"	"00674"
"00294831"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00674, 04582
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000085662"	"00674"	"00107908"	"00006"	"Familial, autosomal dominant"	""	"bone dysplasia; bone tumor"	""	""	""	""	""	""	""	""	""	""	""
"0000085663"	"00674"	"00107909"	"00006"	"Familial, autosomal dominant"	""	"bone dysplasia"	""	""	""	""	""	""	""	""	""	""	""
"0000085664"	"00674"	"00107910"	"00006"	"Familial, autosomal dominant"	""	"bone dysplasia; bone tumor"	""	""	""	""	""	""	""	""	""	""	""
"0000085665"	"00674"	"00107911"	"00006"	"Familial, autosomal dominant"	""	"bone dysplasia"	""	""	""	""	""	""	""	""	""	""	""
"0000085666"	"00674"	"00107912"	"00006"	"Familial, autosomal dominant"	""	"bone dysplasia; bone tumor"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000108377"	"00107908"	"1"	"00006"	"00784"	"2012-04-18 09:35:34"	""	""	"RT-PCR;SEQ-NG"	"DNA"	""	""
"0000108378"	"00107909"	"1"	"00006"	"00784"	"2012-04-18 09:35:34"	""	""	"RT-PCR;SEQ-NG"	"DNA"	""	""
"0000108379"	"00107910"	"1"	"00006"	"00784"	"2012-04-18 09:35:34"	""	""	"RT-PCR;SEQ-NG"	"DNA"	""	""
"0000108380"	"00107911"	"1"	"00006"	"00784"	"2012-04-18 09:35:34"	""	""	"RT-PCR;SEQ-NG"	"DNA"	""	""
"0000108381"	"00107912"	"1"	"00006"	"00784"	"2012-04-18 09:35:34"	""	""	"RT-PCR;SEQ-NG"	"DNA"	""	""
"0000295999"	"00294831"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000108377"	"MTAP"
"0000108378"	"MTAP"
"0000108379"	"MTAP"
"0000108380"	"MTAP"
"0000108381"	"MTAP"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 15
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000174303"	"11"	"90"	"9"	"21859422"	"21859422"	"subst"	"0"	"00006"	"MTAP_000001"	"g.21859422A>G"	""	"{PMID:Camacho-Vanegas 2012:22464254}"	""	""	"numbering relative to EST clone AK309365; not in 1000 control chromosomes\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.21859423A>G"	""	"pathogenic"	""
"0000174304"	"21"	"90"	"9"	"21859422"	"21859422"	"subst"	"0"	"00006"	"MTAP_000001"	"g.21859422A>G"	""	"{PMID:Camacho-Vanegas 2012:22464254}"	""	""	"numbering relative to EST clone AK309365\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.21859423A>G"	""	"pathogenic"	""
"0000174305"	"21"	"90"	"9"	"21862046"	"21862046"	"subst"	"0"	"00006"	"MTAP_000002"	"g.21862046A>G"	""	"{PMID:Camacho-Vanegas 2012:22464254}"	""	""	"numbering relative to EST clone AK309365; not in 1000 control chromosomes\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.21862047A>G"	""	"pathogenic"	""
"0000174306"	"21"	"90"	"9"	"21862046"	"21862046"	"subst"	"0"	"00006"	"MTAP_000002"	"g.21862046A>G"	""	"{PMID:Camacho-Vanegas 2012:22464254}"	""	""	"numbering relative to EST clone AK309365\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.21862047A>G"	""	"pathogenic"	""
"0000174307"	"21"	"90"	"9"	"21862046"	"21862046"	"subst"	"0"	"00006"	"MTAP_000002"	"g.21862046A>G"	""	"{PMID:Camacho-Vanegas 2012:22464254}"	""	""	"numbering relative to EST clone AK309365\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.21862047A>G"	""	"pathogenic"	""
"0000250296"	"0"	"30"	"9"	"21815437"	"21815437"	"subst"	"0.000295971"	"02329"	"MTAP_000003"	"g.21815437A>C"	""	""	""	"MTAP(NM_002451.4):c.39A>C (p.G13=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21815438A>C"	""	"likely benign"	""
"0000250360"	"0"	"30"	"9"	"21816728"	"21816728"	"subst"	"0.000139133"	"02329"	"MTAP_000007"	"g.21816728A>C"	""	""	""	"MTAP(NM_002451.4):c.136A>C (p.I46L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21816729A>C"	""	"likely benign"	""
"0000283743"	"0"	"30"	"9"	"21816783"	"21816783"	"subst"	"0.000130426"	"02329"	"MTAP_000004"	"g.21816783T>A"	""	""	""	"MTAP(NM_002451.4):c.179+12T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21816784T>A"	""	"likely benign"	""
"0000283744"	"0"	"30"	"9"	"21818193"	"21818193"	"subst"	"0"	"02329"	"MTAP_000005"	"g.21818193C>T"	""	""	""	"MTAP(NM_002451.4):c.339C>T (p.F113=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21818194C>T"	""	"likely benign"	""
"0000283745"	"0"	"10"	"9"	"21859379"	"21859379"	"subst"	"0.00513038"	"02329"	"MTAP_000006"	"g.21859379T>G"	""	""	""	"MTAP(NM_002451.4):c.768T>G (p.P256=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.21859380T>G"	""	"benign"	""
"0000537813"	"0"	"50"	"9"	"21818081"	"21818081"	"subst"	"2.85167E-5"	"01943"	"MTAP_000008"	"g.21818081C>T"	""	""	""	"MTAP(NM_002451.3):c.227C>T (p.A76V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.21818082C>T"	""	"VUS"	""
"0000652688"	"1"	"30"	"9"	"21854745"	"21854745"	"subst"	"0.000174794"	"03575"	"MTAP_000009"	"g.21854745G>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs184520335}"	"Germline"	""	"rs184520335"	"0"	""	""	"g.21854746G>T"	""	"likely benign"	""
"0001037461"	"0"	"50"	"9"	"21838008"	"21838008"	"subst"	"8.12744E-6"	"01804"	"MTAP_000010"	"g.21838008A>C"	""	""	""	"MTAP(NM_002451.4):c.449A>C (p.(Glu150Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037462"	"0"	"50"	"9"	"21854663"	"21854663"	"subst"	"4.54298E-5"	"01804"	"MTAP_000011"	"g.21854663C>T"	""	""	""	"MTAP(NM_002451.4):c.484C>T (p.(Arg162Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037463"	"0"	"50"	"9"	"21854816"	"21854816"	"subst"	"2.43793E-5"	"01804"	"MTAP_000012"	"g.21854816G>A"	""	""	""	"MTAP(NM_002451.4):c.637G>A (p.(Ala213Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MTAP
## Count = 15
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000174303"	"00013999"	"90"	"813"	"-2"	"813"	"-2"	"c.813-2A>G"	"r.spl? "	"p.="	"8i"
"0000174304"	"00013999"	"90"	"813"	"-2"	"813"	"-2"	"c.813-2A>G"	"r.spl? "	"p.="	"8i"
"0000174305"	"00013999"	"90"	"885"	"0"	"885"	"0"	"c.885A>G"	"r.spl? "	"p.="	"9"
"0000174306"	"00013999"	"90"	"885"	"0"	"885"	"0"	"c.885A>G"	"r.spl? "	"p.="	"9"
"0000174307"	"00013999"	"90"	"885"	"0"	"885"	"0"	"c.885A>G"	"r.spl? "	"p.="	"9"
"0000250296"	"00013999"	"30"	"39"	"0"	"39"	"0"	"c.39A>C"	"r.(?)"	"p.(Gly13=)"	""
"0000250360"	"00013999"	"30"	"136"	"0"	"136"	"0"	"c.136A>C"	"r.(?)"	"p.(Ile46Leu)"	""
"0000283743"	"00013999"	"30"	"179"	"12"	"179"	"12"	"c.179+12T>A"	"r.(=)"	"p.(=)"	""
"0000283744"	"00013999"	"30"	"339"	"0"	"339"	"0"	"c.339C>T"	"r.(?)"	"p.(Phe113=)"	""
"0000283745"	"00013999"	"10"	"768"	"0"	"768"	"0"	"c.768T>G"	"r.(?)"	"p.(Pro256=)"	""
"0000537813"	"00013999"	"50"	"227"	"0"	"227"	"0"	"c.227C>T"	"r.(?)"	"p.(Ala76Val)"	""
"0000652688"	"00013999"	"30"	"566"	"0"	"566"	"0"	"c.566G>T"	"r.(?)"	"p.(Trp189Leu)"	""
"0001037461"	"00013999"	"50"	"449"	"0"	"449"	"0"	"c.449A>C"	"r.(?)"	"p.(Glu150Ala)"	""
"0001037462"	"00013999"	"50"	"484"	"0"	"484"	"0"	"c.484C>T"	"r.(?)"	"p.(Arg162Trp)"	""
"0001037463"	"00013999"	"50"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Ala213Thr)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000108377"	"0000174303"
"0000108378"	"0000174304"
"0000108379"	"0000174305"
"0000108380"	"0000174306"
"0000108381"	"0000174307"
"0000295999"	"0000652688"