### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TP53) # 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}}" "TP53" "tumor protein p53" "17" "p13.1" "unknown" "LRG_321" "UD_144418589658" "" "" "" "1" "11998" "7157" "191170" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-05 09:17:44" "" "" "00005" "2021-09-12 12:24:41" ## 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}}" "00000027" "TP53" "transcript variant 1" "003" "NM_000546.5" "" "NP_000537.3" "" "" "" "-202" "2389" "1182" "7687550" "7668402" "00001" "2020-11-05 09:20:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020" "OSCC" "Oral squamous cell carcinoma" "" "" "" "" "" "00001" "2020-11-05 09:04:59" "" "" "00021" "-" "Breast cancer" "AD;SMu" "114480" "breast" "" "" "00001" "2020-11-05 12:11:17" "00001" "2021-04-07 14:45:56" "00022" "HGSOC" "high grade serous ovarian cancer" "" "" "" "" "" "00001" "2020-11-08 09:34:16" "" "" "00023" "-" "Gliomas" "" "" "brain" "" "" "00001" "2020-11-16 12:25:41" "" "" "00028" "CRC" "colorectal , cancer" "" "" "" "" "" "00001" "2020-11-25 14:13:05" "00001" "2020-12-14 10:52:44" "00146" "-" "Cerebral Supratentorial Ependymomas" "" "" "brain" "" "" "00001" "2021-07-06 12:55:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TP53" "00020" "TP53" "00021" "TP53" "00023" "TP53" "00146" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000133" "" "" "" "1" "" "00002" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "" "" "Malaysia" "" "" "?" "00000134" "" "" "" "1" "" "00002" "{PMID:Xiaohong R Yang et al. (2013):28664506}" "" "" "Malaysia" "" "Sarawak" "F" "00000139" "" "" "" "1" "" "00002" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}" "" "" "Malaysia" "" "" "F" "00000150" "" "" "" "1" "" "00002" "{PMID:A A Yusoff et al. (2004):15168228}" "" "" "Malaysia" "" "" "?" "00000253" "" "" "" "1" "" "00002" "Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)" "" "" "Malaysia" "" "" "F" "00000254" "" "" "" "1" "" "00002" "Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)" "" "" "Malaysia" "" "" "M" "00000260" "" "" "" "1" "" "00002" "{PMID:Daphne S C Lee et al. (2012):22507745}" "" "" "Malaysia" "Malay" "" "" "00000261" "" "" "" "1" "" "00002" "{PMID:Daphne S C Lee et al. (2012):22507745}" "" "" "Malaysia" "Chinese" "" "" "00000348" "" "" "" "1" "" "00002" "{PMID:A Jafri et al. (2003):14569744}" "" "" "Malaysia" "Malay" "" "" "00000493" "" "" "" "1" "" "00002" "{DOI:Ryia-Illani Mohd Yunos et al. (2019):10.36877/pmmb.a0000036}" "" "" "Malaysia" "Chinese" "" "F" "00000494" "" "" "" "1" "" "00002" "{DOI:Ryia-Illani Mohd Yunos et al. (2019):10.36877/pmmb.a0000036}" "" "" "Malaysia" "Chinese" "" "M" "00000495" "" "" "" "1" "" "00002" "{DOI:Ryia-Illani Mohd Yunos et al. (2019):10.36877/pmmb.a0000036}" "" "" "Malaysia" "Malay" "" "M" "00000496" "" "" "" "1" "" "00002" "{DOI:Ryia-Illani Mohd Yunos et al. (2019):10.36877/pmmb.a0000036}" "" "" "Malaysia" "Malay" "" "F" "00000762" "" "" "" "1" "" "00004" "{PMID:A R Ghani et al.(2008):18695856}" "" "" "Malaysia" "Malay" "" "M" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000133" "00020" "00000134" "00021" "00000139" "00022" "00000150" "00023" "00000253" "00028" "00000254" "00028" "00000260" "00021" "00000261" "00021" "00000348" "00023" "00000493" "00028" "00000494" "00028" "00000495" "00028" "00000496" "00028" "00000762" "00146" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00020, 00021, 00022, 00023, 00028, 00146 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000063" "00023" "00000150" "00002" "" "" "0000000158" "00028" "00000493" "00002" "Proximal and distal CRC" "" "0000000159" "00028" "00000494" "00002" "Proximal and distal CRC" "" "0000000160" "00028" "00000495" "00002" "Proximal and distal CRC" "" "0000000161" "00028" "00000496" "00002" "Proximal and distal CRC" "" "0000000290" "00146" "00000762" "00004" "Axial CT image of the brain shows the extraventricular lesion prior to the first craniotomy. Contrast -enhanced axial TI -W MR image shows the recurrent extraventricular tumour. Photomicrograph of monomorphic tumour cells show characteristic perivascular pseudorosette formations." "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000148" "00000133" "1" "00002" "00002" "2020-11-05 09:44:14" "" "" "PCR;SEQ" "DNA" "0000000149" "00000134" "1" "00002" "00002" "2020-11-05 12:18:36" "" "" "MLPA;SEQ" "DNA" "0000000154" "00000139" "1" "00002" "00002" "2020-11-08 12:09:41" "" "" "SEQ-NG;PCR" "DNA" "0000000165" "00000150" "1" "00002" "00002" "2020-11-16 12:39:55" "" "" "PCR;SSCA" "DNA" "0000000268" "00000253" "1" "00002" "00002" "2020-12-14 11:13:45" "" "" "IHC;SEQ-NG" "DNA" "0000000269" "00000254" "1" "00002" "00002" "2020-12-14 11:19:56" "" "" "IHC;SEQ-NG" "DNA" "0000000275" "00000260" "1" "00002" "00002" "2020-12-15 11:59:34" "" "" "SEQ" "DNA" "0000000276" "00000261" "1" "00002" "00002" "2020-12-15 12:09:47" "" "" "SEQ" "DNA" "0000000362" "00000348" "1" "00002" "00002" "2021-01-12 15:46:32" "" "" "PCR;SEQ;SSCA" "DNA" "0000000539" "00000493" "1" "00002" "00002" "2021-03-09 09:54:32" "" "" "SEQ" "DNA" "0000000540" "00000494" "1" "00002" "00002" "2021-03-09 10:02:52" "" "" "SEQ" "DNA" "0000000541" "00000495" "1" "00002" "00002" "2021-03-09 10:16:34" "" "" "SEQ" "DNA" "0000000542" "00000496" "1" "00002" "00002" "2021-03-09 10:21:06" "" "" "SEQ" "DNA" "0000000856" "00000762" "1" "00004" "00004" "2021-07-06 12:58:24" "" "" "PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000000148" "TP53" "0000000149" "TP53" "0000000154" "TP53" "0000000165" "TP53" "0000000268" "TP53" "0000000269" "TP53" "0000000275" "TP53" "0000000276" "TP53" "0000000362" "TP53" "0000000539" "TP53" "0000000540" "TP53" "0000000541" "TP53" "0000000542" "TP53" "0000000856" "TP53" ## 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 = 74 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000000684" "0" "90" "17" "7676030" "7676032" "del" "0" "00002" "TP53_000001" "g.7676030_7676032del" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "F113del" "" "rs587777801" "0000000685" "0" "90" "17" "7675999" "7675999" "subst" "0" "00002" "TP53_000002" "g.7675999A>G" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "C124R" "" "rs121909223" "0000000686" "0" "50" "17" "7675158" "7675158" "subst" "0" "00002" "TP53_000003" "g.7675158G>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs767328513}, {ClinVar:482230}" "P152S" "" "rs767328513" "0000000687" "0" "90" "17" "7675142" "7675142" "subst" "0" "00002" "TP53_000004" "g.7675142A>C" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "V157G" "" "" "0000000688" "0" "90" "17" "7675088" "7675088" "subst" "0" "00002" "TP53_000005" "g.7675088C>T" "2/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs28934578}, {OMIM:191170:0030}, {ClinVar:12374}" "R175H" "" "rs28934578" "0000000689" "0" "70" "17" "7675085" "7675085" "subst" "0" "00002" "TP53_000006" "g.7675085C>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs786202962}, {ClinVar:376569}" "C176F" "" "rs786202962" "0000000690" "0" "00" "17" "7675076" "7675076" "subst" "0" "00002" "TP53_000007" "g.7675076T>C" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs1057519991}, {ClinVar:376606}" "H179R" "" "rs1057519991" "0000000691" "0" "90" "17" "7675064" "7675064" "subst" "0" "00002" "TP53_000008" "g.7675064G>C" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs1555525970}, {ClinVar:634701}" "S183*" "" "rs1555525970" "0000000692" "0" "70" "17" "7674917" "7674917" "subst" "0" "00002" "TP53_000009" "g.7674917T>C" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs1057520007}, {ClinVar:376681}" "Y205C" "" "rs1057520007" "0000000693" "0" "00" "17" "7674262" "7674262" "subst" "0" "00002" "TP53_000010" "g.7674262T>C" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs587780073}, {ClinVar:127820}" "Y234C" "" "rs587780073" "0000000694" "0" "90" "17" "7674261" "7674261" "subst" "0" "00002" "TP53_000011" "g.7674261G>C" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "Y234*" "" "" "0000000695" "0" "90" "17" "7674252" "7674252" "subst" "0" "00002" "TP53_000012" "g.7674252C>T" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs587782664}, {ClinVar:142714}" "M237I" "" "rs587782664" "0000000696" "0" "70" "17" "7674253" "7674253" "subst" "0" "00002" "TP53_000013" "g.7674253A>T" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs765848205}, {ClinVar:376636}" "M237K" "" "rs765848205" "0000000697" "0" "00" "17" "7674232" "7674232" "subst" "0" "00002" "TP53_000014" "g.7674232C>T" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs985033810}, {ClinVar:372785}" "G244D" "" "rs985033810" "0000000698" "0" "90" "17" "7674220" "7674220" "subst" "0" "00002" "TP53_000015" "g.7674220C>T" "2/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs11540652}, {ClinVar:12356}" "R248Q" "" "rs11540652" "0000000699" "0" "90" "17" "7674221" "7674221" "subst" "0" "00002" "TP53_000016" "g.7674221G>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs121912651}, {OMIM:191170:0001}, {ClinVar:12347}" "R248W" "" "rs121912651" "0000000700" "0" "00" "17" "7673803" "7673803" "subst" "0" "00002" "TP53_000017" "g.7673803G>A" "3/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs121913343}, {ClinVar:43594}" "R273C" "" "rs121913343" "0000000701" "0" "90" "17" "7673763" "7673789" "del" "0" "00002" "TP53_000018" "g.7673763_7673789del" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "831_857del24" "" "" "0000000702" "0" "00" "17" "7673788" "7673788" "subst" "0" "00002" "TP53_000019" "g.7673788G>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs17849781}, {ClinVar:376642}" "P278S" "" "rs17849781" "0000000703" "0" "00" "17" "7673776" "7673776" "subst" "0" "00002" "TP53_000020" "g.7673776G>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs28934574}, {OMIM:191170:0018}, {ClinVar:12364}" "R282W" "" "rs28934574" "0000000704" "0" "90" "17" "7673764" "7673764" "subst" "0" "00002" "TP53_000021" "g.7673764C>T" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs786201059}, {ClinVar:183752}" "E286K" "" "rs786201059" "0000000705" "0" "90" "17" "7673744" "7673744" "del" "0" "00002" "TP53_000022" "g.7673744del" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "876delA" "" "rs1557136332" "0000000706" "0" "90" "17" "7673704" "7673704" "subst" "0" "00002" "TP53_000023" "g.7673704G>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs121913344}, {ClinVar:142144}" "R306*" "" "rs121913344" "0000000707" "0" "90" "17" "7673568" "7673568" "del" "0" "00002" "TP53_000024" "g.7673568del" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "960delG" "" "rs1555524370" "0000000708" "0" "90" "17" "7670703" "7670703" "subst" "0" "00002" "TP53_000025" "g.7670703C>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "E336*" "" "rs1553769428" "0000000709" "0" "90" "17" "7670695" "7670696" "ins" "0" "00002" "TP53_000026" "g.7670695_7670696insA" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}," "F338fs*8" "" "" "0000000710" "0" "90" "17" "7670685" "7670685" "subst" "0" "00002" "TP53_000027" "g.7670685G>A" "1/31" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs730882029}, {ClinVar:182970}" "R342*" "" "rs730882029" "0000000711" "0" "90" "17" "7674221" "7674221" "subst" "0" "00002" "TP53_000016" "g.7674221G>A" "1/2" "{PMID:Xiaohong R Yang et al. (2013):28664506}, {dbSNP:rs121912651}, {OMIM:191170:0001}, {ClinVar:12347}" "R254 W" "" "rs121912651" "0000000712" "0" "90" "17" "7675157" "7675157" "del" "0" "00002" "TP53_000028" "g.7675157del" "1/2" "{PMID:Xiaohong R Yang et al. (2013):28664506}{dbSNP:rs730882019}" "c.455delC" "" "rs730882019" "0000000723" "0" "90" "17" "7675088" "7675088" "subst" "0" "00002" "TP53_000005" "g.7675088C>T" "2/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs28934578}, {OMIM:191170:0030}, {ClinVar:12374}" "7578406C > T" "" "rs28934578" "0000000724" "0" "00" "17" "7674953" "7674953" "subst" "0" "00002" "TP53_000029" "g.7674953T>C" "1/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs786201838}, {ClinVar:184979}" "7578271T > C / H193R" "" "rs786201838" "0000000725" "0" "90" "17" "7674872" "7674872" "subst" "0" "00002" "TP53_000030" "g.7674872T>C" "2/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs121912666}, {ClinVar:127819}" "7578190T > C / Y220C" "" "rs121912666" "0000000726" "0" "00" "17" "7673717" "7673717" "subst" "4.08837E-6" "00002" "TP53_000031" "g.7673717T>C" "2/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs72661120}, {ClinVar:184179}" "7577035T>C" "" "rs72661120" "0000000727" "0" "90" "17" "7675124" "7675124" "subst" "0" "00002" "TP53_000032" "g.7675124T>C" "1/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs148924904}, {ClinVar:127814}" "7578442T>C / Y163C" "" "rs148924904" "0000000728" "0" "90" "17" "7673776" "7673776" "subst" "0" "00002" "TP53_000033" "g.7673776G>C" "1/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs28934574}, {ClinVar:140821}" "7577094G>C / R282G" "" "rs28934574" "0000000729" "0" "90" "17" "7674263" "7674263" "subst" "0" "00002" "TP53_000034" "g.7674263A>G" "1/10" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}, {dbSNP:rs864622237}, {ClinVar:376691}" "7577581A>G / Y234H" "" "rs864622237" "0000000762" "0" "70" "17" "7674226" "7674226" "subst" "0" "00002" "TP53_000035" "g.7674226A>T" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}{dbSNP:rs587780074}" "M246K" "" "rs587780074" "0000000763" "0" "90" "17" "7674940" "7674941" "delins" "0" "00002" "TP53_000036" "g.7674940_7674941delinsGG" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}" "V197A" "" "" "0000000764" "0" "90" "17" "7673822" "7673822" "subst" "0" "00002" "TP53_000037" "g.7673822T>G" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}" "G266G" "" "rs756044708" "0000000765" "0" "90" "17" "7673826" "7673826" "subst" "0" "00002" "TP53_000038" "g.7673826A>C" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}" "L265R" "" "rs104895316" "0000000766" "0" "50" "17" "7674942" "7674942" "subst" "0" "00002" "TP53_000039" "g.7674942C>A" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}{dbSNP:rs786204041}" "V197L" "" "rs786204041" "0000000767" "0" "90" "17" "7674270" "7674270" "subst" "0" "00002" "TP53_000040" "g.7674270G>C" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}" "T231T" "" "rs1570499154" "0000000768" "0" "50" "17" "7674217" "7674217" "subst" "0" "00002" "TP53_000041" "g.7674217C>T" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}, {dbSNP:rs587782329}, {ClinVar:142241}" "R249K" "" "rs587782329" "0000000769" "0" "90" "17" "7674945" "7674945" "subst" "0" "00002" "TP53_000042" "g.7674945G>A" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}, {dbSNP:rs397516435}, {ClinVar:43589}" "R196*" "" "rs397516435" "0000000770" "0" "00" "17" "7674893" "7674893" "subst" "0" "00002" "TP53_000043" "g.7674893C>G" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}, {dbSNP:rs587778720}, {ClinVar:231214}" "R213P" "" "rs587778720" "0000000771" "0" "00" "17" "7673811" "7673811" "subst" "0" "00002" "TP53_000044" "g.7673811A>G" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}, {dbSNP:rs1057519986}, {ClinVar:376594}" "F270S" "" "rs1057519986" "0000000772" "0" "90" "17" "7673800" "7673803" "del" "0" "00002" "TP53_000045" "g.7673800_7673803del" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}" "CTGG, 4 bp-deletion" "" "rs1564752665" "0000000773" "0" "90" "17" "7674280" "7674280" "subst" "0" "00002" "TP53_000046" "g.7674280T>G" "1/47" "{PMID:A A Yusoff et al. (2004):15168228}" "D228A" "" "rs879254642" "0000001268" "0" "90" "17" "7674935" "7674935" "subst" "0" "00002" "TP53_000047" "g.7674935C>A" "1/2" "{dbSNP:rs1555525857}, {ClinVar:451799}" "G199V" "" "rs1555525857" "0000001269" "0" "90" "17" "7673776" "7673776" "subst" "0" "00002" "TP53_000020" "g.7673776G>A" "1/2" "{dbSNP:rs28934574}, {OMIM:191170:0018}, {ClinVar:12364}" "R282W" "" "rs28934574" "0000001270" "0" "70" "17" "7674188" "7674188" "subst" "0" "00002" "TP53_000048" "g.7674188C>A" "1" "{dbSNP:rs1567548929}, {dbSNP:rs1567548929}, {ClinVar:634680}" "D259Y" "" "rs1567548929" "0000001278" "0" "90" "17" "7670673" "7670673" "subst" "0" "00002" "TP53_000049" "g.7670673C>A" "1/3" "{PMID:Daphne S C Lee et al. (2012):22507745}, {dbSNP:rs1567542019}, {ClinVar: 634697}" "E346X" "" "rs1567542019" "0000001279" "0" "90" "17" "7670703" "7670708" "dup" "0" "00002" "TP53_000050" "g.7670703_7670708dup" "1/3" "{PMID:Daphne S C Lee et al. (2012):22507745}" "G334_R335dup" "" "" "0000001280" "0" "90" "17" "7674841" "7674841" "subst" "0" "00002" "TP53_000051" "g.7674841C>G" "1/3" "{PMID:Daphne S C Lee et al. (2012):22507745}, {dbSNP:rs199578278},{ClinVar:{ClinVar:182947}}" "" "" "rs199578278" "0000001281" "0" "00" "17" "7675199" "7675199" "subst" "0" "00002" "TP53_000053" "g.7675199G>A" "1/4" "{PMID:Daphne S C Lee et al. (2012):22507745}, {dbSNP:rs750600586}, {ClinVar:184863}" "p. A138V" "" "rs750600586" "0000001282" "0" "00" "17" "7673767" "7673767" "subst" "0" "00002" "TP53_000052" "g.7673767C>T" "1/4" "{PMID:Daphne S C Lee et al. (2012):22507745}, {dbSNP:rs112431538}, {ClinVar:420133}" "p. E285K" "" "rs112431538" "0000001283" "0" "00" "17" "7676507" "7676507" "subst" "0" "00002" "TP53_000054" "g.7676507A>G" "1/4" "{PMID:Daphne S C Lee et al. (2012):22507745}{dbSNP:rs184743157}" "" "" "rs184743157" "0000001284" "0" "30" "17" "7676300" "7676300" "subst" "0" "00002" "TP53_000055" "g.7676300A>T" "1/4" "{PMID:Daphne S C Lee et al. (2012):22507745}, {dbSNP:rs200989844} , {ClinVar:[1]}" "" "" "rs200989844" "0000001604" "0" "50" "17" "7674217" "7674217" "subst" "0" "00002" "TP53_000041" "g.7674217C>T" "2/33" "{PMID:A Jafri et al. (2003):14569744}, {dbSNP:rs587782329}, {ClinVar:142241}" "" "" "rs587782329" "0000001605" "0" "90" "17" "7673827" "7673827" "subst" "0" "00002" "TP53_000056" "g.7673827G>A" "1/33" "{PMID:A Jafri et al. (2003):14569744}" "" "" "rs879253921" "0000001606" "0" "70" "17" "7674226" "7674226" "subst" "0" "00002" "TP53_000035" "g.7674226A>T" "1/33" "{PMID:A Jafri et al. (2003):14569744}, {dbSNP:rs587780074}, {ClinVar:480764}" "" "" "rs587780074" "0000001607" "0" "90" "17" "7673822" "7673822" "subst" "0" "00002" "TP53_000037" "g.7673822T>G" "1/33" "{PMID:A Jafri et al. (2003):14569744}" "" "" "rs1581616753" "0000001608" "0" "90" "17" "7673826" "7673826" "subst" "0" "00002" "TP53_000038" "g.7673826A>C" "1/33" "{PMID:A Jafri et al. (2003):14569744}" "" "" "rs104895316" "0000001609" "0" "50" "17" "7674942" "7674942" "subst" "0" "00002" "TP53_000039" "g.7674942C>A" "1/33" "{PMID:A Jafri et al. (2003):14569744}, {dbSNP:rs786204041}, {ClinVar:216468}" "" "" "rs786204041" "0000001610" "0" "90" "17" "7674280" "7674280" "subst" "0" "00002" "TP53_000046" "g.7674280T>G" "1/33" "{PMID:A Jafri et al. (2003):14569744}" "" "" "" "0000001611" "0" "90" "17" "7674945" "7674945" "subst" "0" "00002" "TP53_000042" "g.7674945G>A" "1/33" "{PMID:A Jafri et al. (2003):14569744}, {dbSNP:rs397516435}, {ClinVar:43589}" "" "" "rs397516435" "0000001612" "0" "90" "17" "7674270" "7674270" "subst" "0" "00002" "TP53_000040" "g.7674270G>C" "1/33" "{PMID:A Jafri et al. (2003):14569744}" "" "" "rs1570499154" "0000002276" "0" "90" "17" "7675232" "7675232" "subst" "0" "00002" "TP53_000057" "g.7675232G>A" "1/10" "{dbSNP:rs730881999}, {ClinVar:182928}" "S127F, S88F" "" "rs730881999" "0000002277" "0" "90" "17" "7673704" "7673704" "subst" "0" "00002" "TP53_000023" "g.7673704G>A" "1/10" "{dbSNP:rs121913344}, {ClinVar:142144}" "R174X, R147X, R306X, R267X" "" "rs121913344" "0000002278" "0" "90" "17" "7673820" "7673820" "subst" "0" "00002" "TP53_000058" "g.7673820C>T" "1/10" "{dbSNP:rs587780075}, {ClinVar:127823}" "R135Q, G323A, R108Q, R267Q, R228Q" "" "rs587780075" "0000002279" "0" "90" "17" "7675140" "7675140" "subst" "0" "00002" "TP53_000059" "g.7675140G>A" "1/10" "{dbSNP:rs587780068}, {ClinVar:127812}" "" "" "rs587780068" "0000002280" "0" "90" "17" "7673803" "7673803" "subst" "0" "00002" "TP53_000017" "g.7673803G>A" "1/10" "{dbSNP:rs121913343}, {ClinVar:43594}" "" "" "rs121913343" "0000002281" "0" "90" "17" "7674945" "7674945" "subst" "0" "00002" "TP53_000042" "g.7674945G>A" "1/10" "{dbSNP:rs397516435}, {ClinVar:43589}" "R64X, R37X, R196X, R157X" "" "rs397516435" "0000003026" "0" "90" "17" "12139" "12139" "subst" "0" "00004" "TP53_000060" "g.12139G>C" "" "{PMID:A R Ghani et al.(2008):18695856}" "" "" "" ## 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 TP53 ## Count = 74 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000000684" "00000027" "90" "337" "0" "339" "0" "c.337_339del" "4" "p.(Phe113del)" "r.(?)" "" "" "" "0000000685" "00000027" "90" "370" "0" "370" "0" "c.370T>C" "4" "p.(Cys124Arg)" "r.(?)" "" "" "" "0000000686" "00000027" "50" "454" "0" "454" "0" "c.454C>T" "5" "p.(Pro152Ser)" "r.(?)" "" "" "{ClinVar:482230}" "0000000687" "00000027" "90" "470" "0" "470" "0" "c.470T>G" "5" "p.(Val157Gly)" "r.(?)" "" "" "" "0000000688" "00000027" "90" "524" "0" "524" "0" "c.524G>A" "5" "p.(Arg175His)" "r.(?)" "" "" "{ClinVar:12374}" "0000000689" "00000027" "70" "527" "0" "527" "0" "c.527G>T" "5" "p.(Cys176Phe)" "r.(?)" "" "" "{ClinVar:376569}" "0000000690" "00000027" "00" "536" "0" "536" "0" "c.536A>G" "5" "p.(His179Arg)" "r.(?)" "" "" "{ClinVar:376606}" "0000000691" "00000027" "90" "548" "0" "548" "0" "c.548C>G" "5" "p.(Ser183*)" "r.(?)" "" "" "{ClinVar:634701}" "0000000692" "00000027" "70" "614" "0" "614" "0" "c.614A>G" "6" "p.(Tyr205Cys)" "r.(?)" "" "" "{ClinVar:376681}" "0000000693" "00000027" "00" "701" "0" "701" "0" "c.701A>G" "7" "p.(Tyr234Cys)" "r.(?)" "" "" "{ClinVar:127820}" "0000000694" "00000027" "90" "702" "0" "702" "0" "c.702C>G" "7" "p.(Tyr234*)" "r.(?)" "" "" "" "0000000695" "00000027" "90" "711" "0" "711" "0" "c.711G>A" "7" "p.(Met237Ile)" "r.(?)" "" "" "{ClinVar:142714}" "0000000696" "00000027" "70" "710" "0" "710" "0" "c.710T>A" "7" "p.(Met237Lys)" "r.(?)" "" "" "{ClinVar:376636}" "0000000697" "00000027" "00" "731" "0" "731" "0" "c.731G>A" "7" "p.(Gly244Asp)" "r.(?)" "" "" "{ClinVar:372785}" "0000000698" "00000027" "90" "743" "0" "743" "0" "c.743G>A" "7" "p.(Arg248Gln)" "r.(?)" "" "" "{ClinVar:12356}" "0000000699" "00000027" "90" "742" "0" "742" "0" "c.742C>T" "7" "p.(Arg248Trp)" "r.(?)" "" "" "{ClinVar:12347}" "0000000700" "00000027" "00" "817" "0" "817" "0" "c.817C>T" "8" "p.(Arg273Cys)" "r.(?)" "" "" "{ClinVar:43594}" "0000000701" "00000027" "90" "831" "0" "857" "0" "c.831_857del" "8" "p.(Cys277*)" "r.(?)" "" "" "" "0000000702" "00000027" "00" "832" "0" "832" "0" "c.832C>T" "8" "p.(Pro278Ser)" "r.(?)" "" "" "{ClinVar:376642}" "0000000703" "00000027" "00" "844" "0" "844" "0" "c.844C>T" "8" "p.(Arg282Trp)" "r.(?)" "" "" "{ClinVar:12364}" "0000000704" "00000027" "90" "856" "0" "856" "0" "c.856G>A" "8" "p.(Glu286Lys)" "r.(?)" "" "" "{ClinVar:183752}" "0000000705" "00000027" "90" "876" "0" "876" "0" "c.876del" "8" "p.(Glu294Serfs*51)" "r.(?)" "" "" "" "0000000706" "00000027" "90" "916" "0" "916" "0" "c.916C>T" "8" "p.(Arg306*)" "r.(?)" "" "" "{ClinVar:142144}" "0000000707" "00000027" "90" "960" "0" "960" "0" "c.960del" "9" "p.(Lys321Asnfs*24)" "r.(?)" "" "" "" "0000000708" "00000027" "90" "1006" "0" "1006" "0" "c.1006G>T" "10" "p.(Glu336*)" "r.(?)" "" "" "" "0000000709" "00000027" "90" "1013" "0" "1014" "0" "c.1013_1014insT" "10" "p.(Glu339Argfs*8)" "r.(?)" "" "" "" "0000000710" "00000027" "90" "1024" "0" "1024" "0" "c.1024C>T" "10" "p.(Arg342*)" "r.(?)" "" "" "{ClinVar:182970}" "0000000711" "00000027" "90" "742" "0" "742" "0" "c.742C>T" "7" "p.(Arg248Trp)" "r.(?)" "" "" "{ClinVar:12347}" "0000000712" "00000027" "90" "455" "0" "455" "0" "c.455del" "5" "p.(Pro152Argfs*18)" "r.(?)" "" "" "{ClinVar:634779}" "0000000723" "00000027" "90" "524" "0" "524" "0" "c.524G>A" "5" "p.(Arg175His)" "r.(?)" "" "" "{ClinVar:12374}" "0000000724" "00000027" "00" "578" "0" "578" "0" "c.578A>G" "6" "p.(His193Arg)" "r.(?)" "" "" "{ClinVar:184979}" "0000000725" "00000027" "90" "659" "0" "659" "0" "c.659A>G" "6" "p.(Tyr220Cys)" "r.(?)" "" "" "{ClinVar:127819}" "0000000726" "00000027" "00" "903" "0" "903" "0" "c.903A>G" "8" "p.(=)" "r.(=)" "" "" "{ClinVar:184179}" "0000000727" "00000027" "90" "488" "0" "488" "0" "c.488A>G" "5" "p.(Tyr163Cys)" "r.(?)" "" "" "{ClinVar:127814}" "0000000728" "00000027" "90" "844" "0" "844" "0" "c.844C>G" "8" "p.(Arg282Gly)" "r.(?)" "" "" "{ClinVar:140821}" "0000000729" "00000027" "90" "700" "0" "700" "0" "c.700T>C" "7" "p.(Tyr234His)" "r.(?)" "" "" "{ClinVar:376691}" "0000000762" "00000027" "70" "737" "0" "737" "0" "c.737T>A" "7" "p.(Met246Lys)" "r.(?)" "" "" "{ClinVar:480764}" "0000000763" "00000027" "90" "590" "0" "591" "0" "c.590_591delinsCC" "6" "p.(Val197Ala)" "r.(?)" "" "" "" "0000000764" "00000027" "90" "798" "0" "798" "0" "c.798A>C" "8" "p.(=)" "r.(=)" "" "" "" "0000000765" "00000027" "90" "794" "0" "794" "0" "c.794T>G" "8" "p.(Leu265Arg)" "r.(?)" "" "" "" "0000000766" "00000027" "50" "589" "0" "589" "0" "c.589G>T" "6" "p.(Val197Leu)" "r.(?)" "" "" "{ClinVar:216468}" "0000000767" "00000027" "90" "693" "0" "693" "0" "c.693C>G" "7" "p.(=)" "r.(=)" "" "" "" "0000000768" "00000027" "50" "746" "0" "746" "0" "c.746G>A" "7" "p.(Arg249Lys)" "r.(?)" "" "" "{ClinVar:142241}" "0000000769" "00000027" "90" "586" "0" "586" "0" "c.586C>T" "6" "p.(Arg196*)" "r.(?)" "" "" "{ClinVar:43589}" "0000000770" "00000027" "00" "638" "0" "638" "0" "c.638G>C" "6" "p.(Arg213Pro)" "r.(?)" "" "" "{ClinVar:231214}" "0000000771" "00000027" "00" "809" "0" "809" "0" "c.809T>C" "8" "p.(Phe270Ser)" "r.(?)" "" "" "{ClinVar:376594}" "0000000772" "00000027" "90" "817" "0" "820" "0" "c.817_820del" "8" "p.(Arg273Phefs*71)" "r.(?)" "" "" "" "0000000773" "00000027" "90" "683" "0" "683" "0" "c.683A>C" "7" "p.(Asp228Ala)" "r.(?)" "" "" "" "0000001268" "00000027" "90" "596" "0" "596" "0" "c.596G>T" "" "p.(Gly199Val)" "r.(?)" "" "" "rs1555525857" "0000001269" "00000027" "90" "844" "0" "844" "0" "c.844C>T" "" "p.(Arg282Trp)" "r.(?)" "" "" "{ClinVar:12364}" "0000001270" "00000027" "70" "775" "0" "775" "0" "c.775G>T" "" "p.(Asp259Tyr)" "r.(?)" "" "" "{ClinVar:634680}" "0000001278" "00000027" "90" "1036" "0" "1036" "0" "c.1036G>T" "10" "p.(Glu346*)" "r.(?)" "" "" "{ClinVar: 634697}" "0000001279" "00000027" "90" "1001" "0" "1006" "0" "c.1001_1006dup" "10" "p.(Gly334_Arg335dup)" "r.(?)" "" "" "" "0000001280" "00000027" "90" "672" "18" "672" "18" "c.672+18G>C" "6i" "p.(=)" "r.(=)" "" "" "{ClinVar:182947}" "0000001281" "00000027" "00" "413" "0" "413" "0" "c.413C>T" "5" "p.(Ala138Val)" "r.(?)" "" "" "{ClinVar:184863}" "0000001282" "00000027" "00" "853" "0" "853" "0" "c.853G>A" "8" "p.(Glu285Lys)" "r.(?)" "" "" "{ClinVar:420133}" "0000001283" "00000027" "00" "74" "14" "74" "14" "c.74+14T>C" "2i" "p.(=)" "r.(=)" "" "" "{ClinVar: 372044}" "0000001284" "00000027" "30" "97" "-28" "97" "-28" "c.97-28T>A" "3i" "p.(=)" "r.(=)" "" "" "{ClinVar: 371934}" "0000001604" "00000027" "50" "746" "0" "746" "0" "c.746G>A" "7" "p.(Arg249Lys)" "r.(?)" "" "" "{ClinVar:142241}" "0000001605" "00000027" "90" "793" "0" "793" "0" "c.793C>T" "8" "p.(=)" "r.(=)" "" "" "" "0000001606" "00000027" "70" "737" "0" "737" "0" "c.737T>A" "7" "p.(Met246Lys)" "r.(?)" "" "" "{ClinVar:480764}" "0000001607" "00000027" "90" "798" "0" "798" "0" "c.798A>C" "8" "p.(=)" "r.(=)" "" "" "" "0000001608" "00000027" "90" "794" "0" "794" "0" "c.794T>G" "8" "p.(Leu265Arg)" "r.(?)" "" "" "" "0000001609" "00000027" "50" "589" "0" "589" "0" "c.589G>T" "6" "p.(Val197Leu)" "r.(?)" "" "" "{ClinVar:216468}" "0000001610" "00000027" "90" "683" "0" "683" "0" "c.683A>C" "7" "p.(Asp228Ala)" "r.(?)" "" "" "" "0000001611" "00000027" "90" "586" "0" "586" "0" "c.586C>T" "6" "p.(Arg196*)" "r.(?)" "" "" "{ClinVar:43589}" "0000001612" "00000027" "90" "693" "0" "693" "0" "c.693C>G" "7" "p.(=)" "r.(=)" "" "" "" "0000002276" "00000027" "90" "380" "0" "380" "0" "c.380C>T" "" "p.(Ser127Phe)" "r.(?)" "" "missense" "Likely pathogenic" "0000002277" "00000027" "90" "916" "0" "916" "0" "c.916C>T" "" "p.(Arg306*)" "r.(?)" "" "" "Pathogenic" "0000002278" "00000027" "90" "800" "0" "800" "0" "c.800G>A" "" "p.(Arg267Gln)" "r.(?)" "" "missense" "Uncertain significance​" "0000002279" "00000027" "90" "472" "0" "472" "0" "c.472C>T" "" "p.(Arg158Cys)" "r.(?)" "" "missense" "Likely pathogenic" "0000002280" "00000027" "90" "817" "0" "817" "0" "c.817C>T" "" "p.(Arg273Cys)" "r.(?)" "" "missense" "Pathogenic/Likely pathogenic" "0000002281" "00000027" "90" "586" "0" "586" "0" "c.586C>T" "" "p.(Arg196*)" "r.(?)" "" "" "Pathogenic" "0000003026" "00000027" "90" "7658652" "0" "7658652" "0" "c.*7657470C>G" "4" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 74 "{{screeningid}}" "{{variantid}}" "0000000148" "0000000684" "0000000148" "0000000685" "0000000148" "0000000686" "0000000148" "0000000687" "0000000148" "0000000688" "0000000148" "0000000689" "0000000148" "0000000690" "0000000148" "0000000691" "0000000148" "0000000692" "0000000148" "0000000693" "0000000148" "0000000694" "0000000148" "0000000695" "0000000148" "0000000696" "0000000148" "0000000697" "0000000148" "0000000698" "0000000148" "0000000699" "0000000148" "0000000700" "0000000148" "0000000701" "0000000148" "0000000702" "0000000148" "0000000703" "0000000148" "0000000704" "0000000148" "0000000705" "0000000148" "0000000706" "0000000148" "0000000707" "0000000148" "0000000708" "0000000148" "0000000709" "0000000148" "0000000710" "0000000149" "0000000711" "0000000149" "0000000712" "0000000154" "0000000723" "0000000154" "0000000724" "0000000154" "0000000725" "0000000154" "0000000726" "0000000154" "0000000727" "0000000154" "0000000728" "0000000154" "0000000729" "0000000165" "0000000762" "0000000165" "0000000763" "0000000165" "0000000764" "0000000165" "0000000765" "0000000165" "0000000766" "0000000165" "0000000767" "0000000165" "0000000768" "0000000165" "0000000769" "0000000165" "0000000770" "0000000165" "0000000771" "0000000165" "0000000772" "0000000165" "0000000773" "0000000268" "0000001268" "0000000268" "0000001269" "0000000269" "0000001270" "0000000275" "0000001278" "0000000275" "0000001279" "0000000275" "0000001280" "0000000276" "0000001281" "0000000276" "0000001282" "0000000276" "0000001283" "0000000276" "0000001284" "0000000362" "0000001604" "0000000362" "0000001605" "0000000362" "0000001606" "0000000362" "0000001607" "0000000362" "0000001608" "0000000362" "0000001609" "0000000362" "0000001610" "0000000362" "0000001611" "0000000362" "0000001612" "0000000539" "0000002276" "0000000539" "0000002277" "0000000540" "0000002278" "0000000540" "0000002279" "0000000541" "0000002280" "0000000542" "0000002281" "0000000856" "0000003026"