### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBAP1) # 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}}" "UBAP1" "ubiquitin associated protein 1" "9" "p13.3" "unknown" "NC_000009.11" "UD_136095073194" "" "https://www.LOVD.nl/UBAP1" "" "1" "12461" "51271" "609787" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UBAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-08 19:17:31" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00022219" "UBAP1" "transcript variant 4" "006" "NM_001171201.1" "" "NP_001164672.1" "" "" "" "-10" "2692" "1701" "34179003" "34252521" "" "0000-00-00 00:00:00" "" "" "00025411" "UBAP1" "transcript variant 1" "005" "NM_016525.4" "" "NP_057609.2" "" "" "" "-243" "2500" "1509" "34179003" "34252521" "00006" "2019-06-08 19:18:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "06829" "SPG80" "Spastic paraplegia 80, autosomal dominant" "AD" "618418" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UBAP1" "06829" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00239769" "" "" "" "31" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "6-generation family, 31 affected (13F, 18M)" "F;M" "no" "Iran" "" "0" "" "" "" "Fam1" "00239770" "" "" "" "1" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Germany" "" "0" "" "" "" "Fam2" "00239771" "" "" "" "1" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Canada" "" "0" "" "" "" "Fam3" "00239772" "" "" "" "1" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Spain" "" "0" "" "" "" "Fam4" "00239773" "" "" "" "2" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "3-generation family, 2 affected, father/son" "M" "no" "Bulgaria" "" "0" "" "" "gypsy (Roma)" "Fam5" "00239774" "" "" "" "7" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "4-generation family, 7 affected (5F, 2M)" "F;M" "no" "Bulgaria" "" "0" "" "" "gypsy (Roma)" "Fam6" "00239775" "" "" "" "18" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "4-generation family, 18 affected (14F, 4M)" "F;M" "no" "Germany" "" "0" "" "" "" "Fam7" "00239776" "" "" "" "4" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "4-generation family, 4 affected (F, 3M)" "F;M" "no" "United States" "" "0" "" "" "" "Fam8" "00239777" "" "" "" "2" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "3-generation family, 2 affected, father/daughter" "F;M" "no" "Germany;Croatia (Hrvatska)" "" "0" "" "" "" "Fam9" "00239778" "" "" "" "1" "" "00006" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Germany;Poland" "" "0" "" "" "" "Fam10" "00408692" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat58" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00239769" "00325" "00239770" "00325" "00239771" "00325" "00239772" "00325" "00239773" "00325" "00239774" "00325" "00239775" "00325" "00239776" "00325" "00239777" "00325" "00239778" "00325" "00408692" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00325, 06829 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000179983" "00325" "00239769" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179984" "00325" "00239770" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179985" "00325" "00239771" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179986" "00325" "00239772" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179987" "00325" "00239773" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179988" "00325" "00239774" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179989" "00325" "00239775" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179990" "00325" "00239776" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179991" "00325" "00239777" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000179992" "00325" "00239778" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000300810" "00325" "00408692" "00006" "Isolated (sporadic)" "" "" "15y" "" "" "" "" "" "" "SPG80" "spastic paraplegia" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000240872" "00239769" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240873" "00239770" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240874" "00239771" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240875" "00239772" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240876" "00239773" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240877" "00239774" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240878" "00239775" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240879" "00239776" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240880" "00239777" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000240881" "00239778" "1" "00006" "00006" "2019-06-08 19:55:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000409954" "00408692" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000240872" "UBAP1" "0000240873" "UBAP1" "0000240874" "UBAP1" "0000240875" "UBAP1" "0000240876" "UBAP1" "0000240877" "UBAP1" "0000240878" "UBAP1" "0000240879" "UBAP1" "0000240880" "UBAP1" "0000240881" "UBAP1" ## 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 = 31 "{{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}}" "0000313599" "0" "30" "9" "34242094" "34242094" "subst" "0.0137244" "02329" "UBAP1_000001" "g.34242094T>A" "" "" "" "UBAP1(NM_001171203.3):c.1071T>A (p.N357K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34242096T>A" "" "likely benign" "" "0000313600" "0" "30" "9" "34249965" "34249965" "subst" "0.00137347" "02329" "UBAP1_000002" "g.34249965C>T" "" "" "" "UBAP1(NM_001171201.1):c.1458+6C>T, UBAP1(NM_001171203.2):c.1266+6C>T, UBAP1(NM_001171203.3):c.1266+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34249967C>T" "" "likely benign" "" "0000486546" "0" "90" "9" "34241459" "34241460" "ins" "0" "00006" "UBAP1_000003" "g.34241459_34241460insTGAG" "" "{PMID:Farazi Fard 2019:30929741}" "6-generation family, 31 affected (13F, 18M)" "" "" "Germline" "yes" "" "0" "" "" "g.34241461_34241462insTGAG" "" "pathogenic (dominant)" "" "0000486547" "0" "90" "9" "34241449" "34241450" "del" "0" "00006" "UBAP1_000004" "g.34241449_34241450del" "" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "" "" "De novo" "" "" "0" "" "" "g.34241451_34241452del" "" "pathogenic (dominant)" "" "0000486548" "0" "90" "9" "34241405" "34241405" "del" "0" "00006" "UBAP1_000005" "g.34241405del" "" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "" "mother not available" "De novo" "" "" "0" "" "" "g.34241407del" "" "pathogenic (dominant)" "" "0000486549" "0" "90" "9" "34241384" "34241384" "dup" "0" "00006" "UBAP1_000006" "g.34241384dup" "" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "" "" "De novo" "" "" "0" "" "" "g.34241386dup" "" "pathogenic (dominant)" "" "0000486550" "0" "90" "9" "34241396" "34241396" "subst" "0" "00006" "UBAP1_000007" "g.34241396C>T" "" "{PMID:Farazi Fard 2019:30929741}" "3-generation family, 2 affected, father/son" "" "" "De novo" "yes" "" "0" "" "" "g.34241398C>T" "" "pathogenic (dominant)" "" "0000486551" "0" "90" "9" "34241396" "34241396" "subst" "0" "00006" "UBAP1_000007" "g.34241396C>T" "" "{PMID:Farazi Fard 2019:30929741}" "4-generation family, 7 affected (5F, 2M)" "" "" "Germline" "yes" "" "0" "" "" "g.34241398C>T" "" "pathogenic (dominant)" "" "0000486552" "0" "90" "9" "34241309" "34241313" "dup" "0" "00006" "UBAP1_000008" "g.34241309_34241313dup" "" "{PMID:Farazi Fard 2019:30929741}" "4-generation family, 18 affected (14F, 4M)" "" "" "Germline" "yes" "" "0" "" "" "g.34241311_34241315dup" "" "pathogenic (dominant)" "" "0000486553" "0" "90" "9" "34241318" "34241318" "dup" "0" "00006" "UBAP1_000009" "g.34241318dup" "" "{PMID:Farazi Fard 2019:30929741}" "4-generation family, 4 affected (F, 3M)" "" "" "Germline" "yes" "" "0" "" "" "g.34241320dup" "" "pathogenic (dominant)" "" "0000486554" "0" "90" "9" "34249784" "34249784" "del" "0" "00006" "UBAP1_000010" "g.34249784del" "" "{PMID:Farazi Fard 2019:30929741}" "3-generation family, 2 affected, father/daughter" "" "" "De novo" "yes" "" "0" "" "" "g.34249786del" "" "pathogenic (dominant)" "" "0000486555" "0" "90" "9" "34241449" "34241450" "del" "0" "00006" "UBAP1_000004" "g.34241449_34241450del" "" "{PMID:Farazi Fard 2019:30929741}" "2-generation family, 1 affected, unaffected parents" "" "" "De novo" "" "" "0" "" "" "g.34241451_34241452del" "" "pathogenic (dominant)" "" "0000690524" "0" "30" "9" "34241616" "34241616" "subst" "0.000658071" "01943" "KIF24_000005" "g.34241616A>G" "" "" "" "UBAP1(NM_001171203.2):c.593A>G (p.N198S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804097" "0" "50" "9" "34241601" "34241601" "subst" "0" "01943" "KIF24_000006" "g.34241601C>T" "" "" "" "UBAP1(NM_001171203.2):c.578C>T (p.A193V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804098" "0" "30" "9" "34249965" "34249965" "subst" "0.00137347" "01943" "UBAP1_000002" "g.34249965C>T" "" "" "" "UBAP1(NM_001171201.1):c.1458+6C>T, UBAP1(NM_001171203.2):c.1266+6C>T, UBAP1(NM_001171203.3):c.1266+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804099" "0" "30" "9" "34250677" "34250677" "subst" "8.12282E-6" "02327" "KIF24_000007" "g.34250677C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847170" "0" "90" "9" "34241339" "34241339" "subst" "0" "00006" "UBAP1_000011" "g.34241339A>T" "" "{PMID:Thomas 2022:34085946}" "" "" "" "De novo" "" "" "0" "" "" "g.34241341A>T" "" "pathogenic" "" "0000852257" "0" "30" "9" "34241975" "34241975" "subst" "0" "01943" "KIF24_000008" "g.34241975A>T" "" "" "" "UBAP1(NM_001171203.2):c.952A>T (p.T318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888818" "0" "90" "9" "34241449" "34241450" "del" "0" "02329" "UBAP1_000004" "g.34241449_34241450del" "" "" "" "UBAP1(NM_001171203.3):c.426_427delGA (p.K143Sfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888819" "0" "30" "9" "34249965" "34249965" "subst" "0.00137347" "02326" "UBAP1_000002" "g.34249965C>T" "" "" "" "UBAP1(NM_001171201.1):c.1458+6C>T, UBAP1(NM_001171203.2):c.1266+6C>T, UBAP1(NM_001171203.3):c.1266+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913148" "0" "30" "9" "34241785" "34241785" "subst" "4.06256E-6" "02326" "KIF24_000009" "g.34241785C>T" "" "" "" "UBAP1(NM_001171201.1):c.954C>T (p.L318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949272" "0" "30" "9" "34241839" "34241839" "subst" "5.28013E-5" "02326" "KIF24_000010" "g.34241839C>T" "" "" "" "UBAP1(NM_001171201.1):c.1008C>T (p.D336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949273" "0" "30" "9" "34255063" "34255063" "subst" "0.0004449" "01804" "KIF24_000011" "g.34255063T>C" "" "" "" "KIF24(NM_194313.2):c.3966+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949274" "0" "30" "9" "34257233" "34257233" "subst" "8.12229E-6" "01804" "KIF24_000012" "g.34257233C>T" "" "" "" "KIF24(NM_194313.2):c.2372G>A (p.(Arg791His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997841" "0" "30" "9" "34179123" "34179123" "subst" "0" "01804" "KIF24_000013" "g.34179123G>T" "" "" "" "UBAP1(NM_016525.4):c.-123G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997842" "0" "30" "9" "34242019" "34242019" "subst" "1.22199E-5" "01804" "KIF24_000014" "g.34242019G>A" "" "" "" "UBAP1(NM_016525.4):c.996G>A (p.(Met332Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997843" "0" "50" "9" "34249958" "34249958" "subst" "4.07087E-6" "01804" "KIF24_000015" "g.34249958A>G" "" "" "" "UBAP1(NM_016525.4):c.1265A>G (p.(Gln422Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037491" "0" "50" "9" "34256076" "34256077" "del" "0" "01804" "KIF24_000016" "g.34256076_34256077del" "" "" "" "KIF24(NM_194313.4):c.3530_3531del (p.(Glu1177Glyfs*36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037492" "0" "50" "9" "34269343" "34269343" "subst" "8.25362E-6" "01804" "KIF24_000017" "g.34269343A>T" "" "" "" "KIF24(NM_194313.4):c.1355T>A (p.(Leu452*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037493" "0" "50" "9" "34306389" "34306390" "del" "0" "01804" "KIF24_000018" "g.34306389_34306390del" "" "" "" "KIF24(NM_194313.4):c.675_676del (p.(Arg225Serfs*19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037494" "0" "50" "9" "34306438" "34306441" "del" "0" "01804" "KIF24_000019" "g.34306438_34306441del" "" "" "" "KIF24(NM_194313.4):c.625_628del (p.(Gln209Thrfs*26))" "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 UBAP1 ## Count = 61 "{{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}}" "0000313599" "00025411" "30" "1071" "0" "1071" "0" "c.1071T>A" "r.(?)" "p.(Asn357Lys)" "" "0000313599" "00022219" "30" "1263" "0" "1263" "0" "c.1263T>A" "r.(?)" "p.(Asn421Lys)" "" "0000313600" "00025411" "30" "1266" "6" "1266" "6" "c.1266+6C>T" "r.(=)" "p.(=)" "" "0000313600" "00022219" "30" "1458" "6" "1458" "6" "c.1458+6C>T" "r.(=)" "p.(=)" "" "0000486546" "00025411" "90" "436" "0" "437" "0" "c.436_437insTGAG" "r.(?)" "p.(Ser146Metfs*14)" "4" "0000486546" "00022219" "00" "628" "0" "629" "0" "c.628_629insTGAG" "r.(?)" "p.(Ser210Metfs*14)" "" "0000486547" "00025411" "90" "426" "0" "427" "0" "c.426_427del" "r.(?)" "p.(Lys143Serfs*15)" "4" "0000486547" "00022219" "00" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Lys207Serfs*15)" "" "0000486548" "00025411" "90" "382" "0" "382" "0" "c.382del" "r.(?)" "p.(Ser128Alafs*23)" "4" "0000486548" "00022219" "00" "574" "0" "574" "0" "c.574del" "r.(?)" "p.(Ser192Alafs*23)" "" "0000486549" "00025411" "90" "361" "0" "361" "0" "c.361dup" "r.(?)" "p.(Leu121Profs*18)" "4" "0000486549" "00022219" "00" "553" "0" "553" "0" "c.553dup" "r.(?)" "p.(Leu185Profs*18)" "" "0000486550" "00025411" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125*)" "4" "0000486550" "00022219" "00" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Gln189*)" "" "0000486551" "00025411" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125*)" "4" "0000486551" "00022219" "00" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Gln189*)" "" "0000486552" "00025411" "90" "286" "0" "290" "0" "c.286_290dup" "r.(?)" "p.(Glu97Aspfs*8)" "4" "0000486552" "00022219" "00" "478" "0" "482" "0" "c.478_482dup" "r.(?)" "p.(Glu161Aspfs*8)" "" "0000486553" "00025411" "90" "295" "0" "295" "0" "c.295dup" "r.(?)" "p.(Asp99Glyfs*2)" "4" "0000486553" "00022219" "00" "487" "0" "487" "0" "c.487dup" "r.(?)" "p.(Asp163Glyfs*2)" "" "0000486554" "00025411" "90" "1091" "0" "1091" "0" "c.1091del" "r.(?)" "p.(Pro364Leufs*50)" "5" "0000486554" "00022219" "00" "1283" "0" "1283" "0" "c.1283del" "r.(?)" "p.(Pro428Leufs*50)" "" "0000486555" "00025411" "90" "426" "0" "427" "0" "c.426_427del" "r.(?)" "p.(Lys143Serfs*15)" "4" "0000486555" "00022219" "00" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Lys207Serfs*15)" "" "0000690524" "00025411" "30" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asn198Ser)" "" "0000690524" "00022219" "30" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Asn262Ser)" "" "0000804097" "00025411" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ala193Val)" "" "0000804097" "00022219" "50" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ala257Val)" "" "0000804098" "00025411" "30" "1266" "6" "1266" "6" "c.1266+6C>T" "r.(=)" "p.(=)" "" "0000804098" "00022219" "30" "1458" "6" "1458" "6" "c.1458+6C>T" "r.(=)" "p.(=)" "" "0000804099" "00025411" "30" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(His430Tyr)" "" "0000804099" "00022219" "30" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(His494Tyr)" "" "0000847170" "00022219" "90" "508" "0" "508" "0" "c.508A>T" "r.(?)" "p.(Lys170Ter)" "" "0000852257" "00025411" "30" "952" "0" "952" "0" "c.952A>T" "r.(?)" "p.(Thr318Ser)" "" "0000852257" "00022219" "30" "1144" "0" "1144" "0" "c.1144A>T" "r.(?)" "p.(Thr382Ser)" "" "0000888818" "00025411" "90" "426" "0" "427" "0" "c.426_427del" "r.(?)" "p.(Lys143Serfs*15)" "" "0000888818" "00022219" "90" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Lys207Serfs*15)" "" "0000888819" "00025411" "30" "1266" "6" "1266" "6" "c.1266+6C>T" "r.(=)" "p.(=)" "" "0000888819" "00022219" "30" "1458" "6" "1458" "6" "c.1458+6C>T" "r.(=)" "p.(=)" "" "0000913148" "00025411" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Leu254=)" "" "0000913148" "00022219" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Leu318=)" "" "0000949272" "00025411" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(=)" "" "0000949272" "00022219" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Asp336=)" "" "0000949273" "00025411" "30" "5042" "0" "5042" "0" "c.*3533T>C" "r.(=)" "p.(=)" "" "0000949273" "00022219" "30" "5234" "0" "5234" "0" "c.*3533T>C" "r.(=)" "p.(=)" "" "0000949274" "00025411" "30" "7212" "0" "7212" "0" "c.*5703C>T" "r.(=)" "p.(=)" "" "0000949274" "00022219" "30" "7404" "0" "7404" "0" "c.*5703C>T" "r.(=)" "p.(=)" "" "0000997841" "00025411" "30" "-123" "0" "-123" "0" "c.-123G>T" "r.(?)" "p.(=)" "" "0000997841" "00022219" "30" "111" "0" "111" "0" "c.111G>T" "r.(?)" "p.(Arg37Ser)" "" "0000997842" "00025411" "30" "996" "0" "996" "0" "c.996G>A" "r.(?)" "p.(Met332Ile)" "" "0000997842" "00022219" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Met396Ile)" "" "0000997843" "00025411" "50" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(Gln422Arg)" "" "0000997843" "00022219" "50" "1457" "0" "1457" "0" "c.1457A>G" "r.(?)" "p.(Gln486Arg)" "" "0001037491" "00025411" "50" "6055" "0" "6056" "0" "c.*4546_*4547del" "r.(=)" "p.(=)" "" "0001037491" "00022219" "50" "6247" "0" "6248" "0" "c.*4546_*4547del" "r.(=)" "p.(=)" "" "0001037492" "00025411" "50" "19322" "0" "19322" "0" "c.*17813A>T" "r.(=)" "p.(=)" "" "0001037492" "00022219" "50" "19514" "0" "19514" "0" "c.*17813A>T" "r.(=)" "p.(=)" "" "0001037493" "00025411" "50" "56368" "0" "56369" "0" "c.*54859_*54860del" "r.(=)" "p.(=)" "" "0001037493" "00022219" "50" "56560" "0" "56561" "0" "c.*54859_*54860del" "r.(=)" "p.(=)" "" "0001037494" "00025411" "50" "56417" "0" "56420" "0" "c.*54908_*54911del" "r.(=)" "p.(=)" "" "0001037494" "00022219" "50" "56609" "0" "56612" "0" "c.*54908_*54911del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000240872" "0000486546" "0000240873" "0000486547" "0000240874" "0000486548" "0000240875" "0000486549" "0000240876" "0000486550" "0000240877" "0000486551" "0000240878" "0000486552" "0000240879" "0000486553" "0000240880" "0000486554" "0000240881" "0000486555" "0000409954" "0000847170"