### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SSX1) # 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}}" "SSX1" "synovial sarcoma, X breakpoint 1" "X" "p11.23" "unknown" "NC_000023.10" "UD_132119019395" "" "https://www.LOVD.nl/SSX1" "" "1" "11335" "6756" "312820" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2023-02-18 21:35:18" "00000" "2025-07-08 13:22:38" ## 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}}" "00000639" "SSX1" "synovial sarcoma, X breakpoint 1" "001" "NM_005635.2" "" "NP_005626.1" "" "" "" "-91" "1162" "567" "48114797" "48126879" "00000" "2012-09-13 12:42:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02187" "-" "sarcoma, synovial" "" "300813" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 12:07:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SSX1" "00201" "SSX1" "02187" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172636" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00432062" "" "" "" "1" "" "00006" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "M" "" "China" "" "0" "" "" "" "N027II-1" "00432063" "" "" "" "1" "" "00006" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "M" "" "China" "" "0" "" "" "" "Y7460II-1" "00432064" "" "" "" "1" "" "00006" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "M" "" "China" "" "0" "" "" "" "H054II-1" "00432065" "" "" "" "1" "" "00006" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "M" "" "China" "" "0" "" "" "" "AY001II-1" "00432066" "" "" "" "1" "" "00006" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "M" "" "China" "" "0" "" "" "" "Y1642II-1" "00432067" "" "" "" "1" "" "00006" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "M" "" "China" "" "0" "" "" "" "S868II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00172636" "00187" "00432062" "00201" "00432063" "00201" "00432064" "00201" "00432065" "00201" "00432066" "00201" "00432067" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00201, 01157, 02187 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000137500" "00187" "00172636" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000322630" "00201" "00432062" "00006" "Familial, X-linked recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" "0000322631" "00201" "00432063" "00006" "Familial, X-linked recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" "0000322632" "00201" "00432064" "00006" "Familial, X-linked recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" "0000322633" "00201" "00432065" "00006" "Familial, X-linked recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" "0000322634" "00201" "00432066" "00006" "Familial, X-linked recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" "0000322635" "00201" "00432067" "00006" "Familial, X-linked recessive" "" "see paper; ..., asthenoteratozoospermia" "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000173519" "00172636" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000433502" "00432062" "1" "00006" "00006" "2023-02-18 21:39:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433503" "00432063" "1" "00006" "00006" "2023-02-18 21:39:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433504" "00432064" "1" "00006" "00006" "2023-02-18 21:39:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433505" "00432065" "1" "00006" "00006" "2023-02-18 21:39:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433506" "00432066" "1" "00006" "00006" "2023-02-18 21:39:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433507" "00432067" "1" "00006" "00006" "2023-02-18 21:39:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000173519" "RBM10" ## 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 = 71 "{{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}}" "0000001909" "20" "50" "X" "48118246" "48118247" "ins" "0" "00037" "SSX1_000011" "g.48118246_48118247insCA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258811_48258812insCA" "" "VUS" "" "0000001910" "20" "50" "X" "48118422" "48118426" "dup" "0" "00037" "SSX1_000033" "g.48118422_48118426dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258987_48258991dup" "" "VUS" "" "0000001911" "20" "50" "X" "48126417" "48126417" "dup" "0" "00037" "SSX1_000018" "g.48126417dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48266982dup" "" "VUS" "" "0000002934" "20" "50" "X" "48118246" "48118247" "ins" "0" "00037" "SSX1_000043" "g.48118246_48118247insCA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258811_48258812insCA" "" "VUS" "" "0000002935" "20" "50" "X" "48118422" "48118426" "dup" "0" "00037" "SSX1_000042" "g.48118422_48118426dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258987_48258991dup" "" "VUS" "" "0000002936" "20" "50" "X" "48122898" "48122898" "del" "0" "00037" "SSX1_000037" "g.48122898del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48263463del" "" "VUS" "" "0000002937" "20" "50" "X" "48126417" "48126417" "dup" "0" "00037" "SSX1_000039" "g.48126417dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48266982dup" "" "VUS" "" "0000002938" "0" "50" "X" "48126713" "48126714" "ins" "0" "00037" "SSX1_000040" "g.48126713_48126714insAGAGAGA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48267278_48267279insAGAGAGA" "" "VUS" "" "0000006748" "20" "50" "X" "48115200" "48115200" "subst" "0" "00037" "SSX1_000001" "g.48115200T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48255765T>A" "" "VUS" "" "0000006749" "20" "50" "X" "48116786" "48116786" "subst" "0.3972" "00037" "SSX1_000004" "g.48116786C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48257351C>G" "" "VUS" "" "0000006750" "20" "50" "X" "48116955" "48116955" "subst" "0" "00037" "SSX1_000006" "g.48116955G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48257520G>C" "" "VUS" "" "0000006751" "20" "50" "X" "48117763" "48117763" "subst" "0" "00037" "SSX1_000008" "g.48117763A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258328A>C" "" "VUS" "" "0000006752" "20" "50" "X" "48118320" "48118320" "subst" "0" "00037" "SSX1_000029" "g.48118320G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258885G>A" "" "VUS" "" "0000006753" "20" "50" "X" "48118354" "48118354" "subst" "0" "00037" "SSX1_000031" "g.48118354G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258919G>A" "" "VUS" "" "0000006754" "20" "50" "X" "48121002" "48121002" "subst" "0" "00037" "SSX1_000034" "g.48121002T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48261567T>A" "" "VUS" "" "0000006755" "20" "50" "X" "48122950" "48122950" "subst" "0" "00037" "SSX1_000022" "g.48122950C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48263515C>G" "" "VUS" "" "0000006756" "20" "50" "X" "48123139" "48123139" "subst" "0" "00037" "SSX1_000025" "g.48123139G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48263704G>A" "" "VUS" "" "0000006757" "20" "50" "X" "48123569" "48123569" "subst" "0" "00037" "SSX1_000012" "g.48123569A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48264134A>C" "" "VUS" "" "0000006758" "20" "50" "X" "48125371" "48125371" "subst" "0" "00037" "SSX1_000015" "g.48125371G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48265936G>A" "" "VUS" "" "0000008816" "20" "50" "X" "48115200" "48115200" "subst" "0" "00037" "SSX1_000001" "g.48115200T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48255765T>A" "" "VUS" "" "0000008817" "20" "50" "X" "48116786" "48116786" "subst" "0.3972" "00037" "SSX1_000004" "g.48116786C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48257351C>G" "" "VUS" "" "0000008818" "20" "50" "X" "48116955" "48116955" "subst" "0" "00037" "SSX1_000006" "g.48116955G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48257520G>C" "" "VUS" "" "0000008819" "20" "50" "X" "48117763" "48117763" "subst" "0" "00037" "SSX1_000008" "g.48117763A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258328A>C" "" "VUS" "" "0000008820" "20" "50" "X" "48118246" "48118247" "ins" "0" "00037" "SSX1_000011" "g.48118246_48118247insCA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258811_48258812insCA" "" "VUS" "" "0000008821" "20" "50" "X" "48121002" "48121002" "subst" "0" "00037" "SSX1_000034" "g.48121002T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48261567T>A" "" "VUS" "" "0000008822" "20" "50" "X" "48122950" "48122950" "subst" "0" "00037" "SSX1_000022" "g.48122950C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48263515C>G" "" "VUS" "" "0000008823" "20" "50" "X" "48123139" "48123139" "subst" "0" "00037" "SSX1_000025" "g.48123139G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48263704G>A" "" "VUS" "" "0000008824" "20" "50" "X" "48123569" "48123569" "subst" "0" "00037" "SSX1_000012" "g.48123569A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48264134A>C" "" "VUS" "" "0000008825" "20" "50" "X" "48125798" "48125798" "subst" "0.509564" "00037" "SSX1_000017" "g.48125798T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48266363T>C" "" "VUS" "" "0000008826" "20" "50" "X" "48126417" "48126417" "dup" "0" "00037" "SSX1_000018" "g.48126417dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48266982dup" "" "VUS" "" "0000008827" "20" "50" "X" "48126602" "48126602" "subst" "0" "00037" "SSX1_000020" "g.48126602C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48267167C>G" "" "VUS" "" "0000008828" "20" "50" "X" "48126714" "48126714" "subst" "0" "00037" "SSX1_000021" "g.48126714G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48267279G>A" "" "VUS" "" "0000010936" "20" "50" "X" "48118246" "48118247" "ins" "0" "00037" "SSX1_000043" "g.48118246_48118247insCA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258811_48258812insCA" "" "VUS" "" "0000010937" "20" "50" "X" "48122898" "48122898" "del" "0" "00037" "SSX1_000037" "g.48122898del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48263463del" "" "VUS" "" "0000010938" "20" "50" "X" "48126417" "48126417" "dup" "0" "00037" "SSX1_000039" "g.48126417dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48266982dup" "" "VUS" "" "0000010939" "0" "50" "X" "48126714" "48126715" "ins" "0" "00037" "SSX1_000041" "g.48126714_48126715insAGAGAGA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48267279_48267280insAGAGAGA" "" "VUS" "" "0000014721" "20" "50" "X" "48118320" "48118320" "subst" "0" "00037" "SSX1_000029" "g.48118320G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258885G>A" "" "VUS" "" "0000014722" "20" "50" "X" "48118354" "48118354" "subst" "0" "00037" "SSX1_000031" "g.48118354G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48258919G>A" "" "VUS" "" "0000014727" "20" "50" "X" "48125371" "48125371" "subst" "0" "00037" "SSX1_000015" "g.48125371G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48265936G>A" "" "VUS" "" "0000315756" "0" "30" "X" "48121247" "48121247" "subst" "1.12179E-5" "01943" "SSX1_000047" "g.48121247G>A" "" "" "" "SSX1(NM_001278691.1):c.327G>A (p.P109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48261812G>A" "" "likely benign" "" "0000333968" "0" "50" "X" "48117185" "48117185" "subst" "4.0822E-5" "01804" "SSX1_000044" "g.48117185T>G" "" "" "" "SSX1(NM_001278691.1):c.74T>G (p.(Phe25Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48257750T>G" "" "VUS" "" "0000333970" "0" "50" "X" "48117267" "48117267" "subst" "7.60385E-5" "01804" "SSX1_000046" "g.48117267G>C" "" "" "" "SSX1(NM_001278691.1):c.156G>C (p.K52N, p.(Lys52Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48257832G>C" "" "VUS" "" "0000333971" "0" "50" "X" "48123311" "48123311" "dup" "0" "01804" "SSX1_000049" "g.48123311dup" "" "" "" "SSX1(NM_001278691.1):c.419_420insC (p.(Gly143ArgfsTer7)), SSX1(NM_001278691.1):c.425dupC (p.G143Rfs*7), SSX1(NM_005635.4):c.425dupC (p.G143Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48263876dup" "" "VUS" "" "0000393376" "1" "50" "X" "48123308" "48123308" "subst" "0.00187829" "00124" "SSX1_000051" "g.48123308C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.48263873C>A" "" "VUS" "" "0000576187" "0" "30" "X" "48116720" "48116720" "subst" "0" "01804" "SSX1_000053" "g.48116720C>A" "" "" "" "SSX1(NM_001278691.1):c.44C>A (p.(Ala15Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48257285C>A" "" "likely benign" "" "0000576188" "0" "30" "X" "48116740" "48116740" "subst" "6.17898E-5" "01943" "SSX1_000054" "g.48116740A>C" "" "" "" "SSX1(NM_001278691.1):c.64A>C (p.S22R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48257305A>C" "" "likely benign" "" "0000576189" "0" "30" "X" "48121246" "48121246" "subst" "0.000241173" "01943" "SSX1_000055" "g.48121246C>T" "" "" "" "SSX1(NM_001278691.1):c.326C>T (p.P109L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48261811C>T" "" "likely benign" "" "0000576191" "0" "10" "X" "48123311" "48123311" "dup" "0" "01943" "SSX1_000049" "g.48123311dup" "" "" "" "SSX1(NM_001278691.1):c.419_420insC (p.(Gly143ArgfsTer7)), SSX1(NM_001278691.1):c.425dupC (p.G143Rfs*7), SSX1(NM_005635.4):c.425dupC (p.G143Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48263876dup" "" "benign" "" "0000619613" "0" "50" "X" "48117182" "48117182" "subst" "3.52096E-5" "01943" "SSX1_000057" "g.48117182C>A" "" "" "" "SSX1(NM_001278691.1):c.71C>A (p.A24D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48257747C>A" "" "VUS" "" "0000619614" "0" "50" "X" "48117283" "48117283" "subst" "5.44728E-5" "01943" "SSX1_000058" "g.48117283A>G" "" "" "" "SSX1(NM_001278691.1):c.172A>G (p.M58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48257848A>G" "" "VUS" "" "0000619615" "0" "50" "X" "48121213" "48121213" "dup" "0" "01943" "SSX1_000059" "g.48121213dup" "" "" "" "SSX1(NM_001278691.1):c.293dupA (p.M99Dfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48261778dup" "" "VUS" "" "0000659337" "0" "50" "X" "48123357" "48123357" "subst" "0" "01804" "SSX1_000060" "g.48123357G>C" "" "" "" "SSX1(NM_001278691.1):c.466+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48263922G>C" "" "VUS" "" "0000728954" "0" "50" "X" "48123352" "48123352" "subst" "0" "01943" "SSX1_000061" "g.48123352G>T" "" "" "" "SSX1(NM_001278691.1):c.466G>T (p.G156*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810440" "0" "50" "X" "48125755" "48125755" "subst" "1.68041E-5" "01943" "SSX1_000062" "g.48125755G>T" "" "" "" "SSX1(NM_001278691.1):c.500G>T (p.R167I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810441" "0" "30" "X" "48125761" "48125761" "subst" "0.000308089" "01943" "SSX1_000063" "g.48125761G>A" "" "" "" "SSX1(NM_001278691.1):c.506G>A (p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856641" "0" "30" "X" "48117196" "48117196" "subst" "5.75123E-6" "01943" "SSX1_000064" "g.48117196G>A" "" "" "" "SSX1(NM_001278691.1):c.85G>A (p.A29T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867400" "0" "50" "X" "48117267" "48117267" "subst" "7.60385E-5" "01943" "SSX1_000046" "g.48117267G>C" "" "" "" "SSX1(NM_001278691.1):c.156G>C (p.K52N, p.(Lys52Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867401" "0" "50" "X" "48121199" "48121199" "subst" "1.68222E-5" "01943" "SSX1_000065" "g.48121199A>G" "" "" "" "SSX1(NM_001278691.1):c.281-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867402" "0" "90" "X" "48125735" "48125735" "dup" "0" "01943" "SSX1_000066" "g.48125735dup" "" "" "" "SSX1(NM_001278691.1):c.480dupG (p.K161Efs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000919131" "20" "90" "X" "48117971" "48117972" "del" "0" "00006" "SSX1_000067" "g.48117971_48117972del" "" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.48258536_48258537del" "" "pathogenic (recessive)" "ACMG" "0000919132" "20" "90" "X" "48123237" "48123237" "del" "0" "00006" "SSX1_000068" "g.48123237del" "" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.48263802del" "" "pathogenic (recessive)" "ACMG" "0000919133" "20" "90" "X" "48117291" "48117291" "del" "0" "00006" "SSX1_000069" "g.48117291del" "" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.48257856del" "" "pathogenic (recessive)" "ACMG" "0000919134" "20" "90" "X" "48123298" "48123299" "del" "0" "00006" "SSX1_000070" "g.48123298_48123299del" "" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.48263863_48263864del" "" "pathogenic (recessive)" "ACMG" "0000919135" "20" "90" "X" "48117275" "48117275" "subst" "4.14527E-5" "00006" "SSX1_000071" "g.48117275A>G" "" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.48257840A>G" "" "likely pathogenic (recessive)" "ACMG" "0000919136" "20" "90" "X" "48125827" "48125827" "subst" "0.00019047" "00006" "SSX1_000072" "g.48125827G>A" "" "{PMID:Liu 2023:36796361}, {DOI:Liu 2023:10.1016/j.ajhg.2023.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.48266392G>A" "" "pathogenic (recessive)" "ACMG" "0000927382" "0" "50" "X" "48123311" "48123311" "dup" "0" "02325" "SSX1_000049" "g.48123311dup" "" "" "" "SSX1(NM_001278691.1):c.419_420insC (p.(Gly143ArgfsTer7)), SSX1(NM_001278691.1):c.425dupC (p.G143Rfs*7), SSX1(NM_005635.4):c.425dupC (p.G143Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931421" "0" "30" "X" "48117239" "48117239" "subst" "0.000274722" "02325" "SSX1_000073" "g.48117239C>T" "" "" "" "SSX1(NM_005635.4):c.128C>T (p.S43L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971115" "0" "50" "X" "48118063" "48118063" "subst" "0" "02327" "SSX1_000074" "g.48118063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006779" "0" "50" "X" "48125805" "48125805" "subst" "0" "01804" "SSX1_000075" "g.48125805G>C" "" "" "" "SSX1(NM_005635.3):c.550G>C (p.(Glu184Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044355" "0" "30" "X" "48125827" "48125827" "subst" "0.00038094" "01804" "SSX1_000076" "g.48125827G>T" "" "" "" "SSX1(NM_005635.4):c.*4+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046866" "0" "50" "X" "48117989" "48117989" "subst" "1.12384E-5" "02325" "SSX1_000077" "g.48117989C>T" "" "" "" "SSX1(NM_005635.4):c.203C>T (p.P68L)" "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 SSX1 ## Count = 71 "{{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}}" "0000001909" "00000639" "50" "280" "180" "280" "181" "c.280+180_280+181insCA" "r.(=)" "p.(=)" "" "0000001910" "00000639" "50" "280" "356" "280" "360" "c.280+356_280+360dup" "r.(=)" "p.(=)" "" "0000001911" "00000639" "50" "700" "0" "700" "0" "c.*133dup" "r.(=)" "p.(=)" "" "0000002934" "00000639" "50" "280" "180" "280" "181" "c.280+180_280+181insCA" "r.(=)" "p.(=)" "" "0000002935" "00000639" "50" "280" "356" "280" "360" "c.280+356_280+360dup" "r.(=)" "p.(=)" "" "0000002936" "00000639" "50" "331" "-319" "331" "-319" "c.331-319del" "r.(=)" "p.(=)" "" "0000002937" "00000639" "50" "700" "0" "700" "0" "c.*133dup" "r.(=)" "p.(=)" "" "0000002938" "00000639" "50" "996" "0" "997" "0" "c.*429_*430insAGAGAGA" "r.(=)" "p.(=)" "" "0000006748" "00000639" "50" "-21" "333" "-21" "333" "c.-21+333T>A" "r.(=)" "p.(=)" "" "0000006749" "00000639" "50" "69" "41" "69" "41" "c.69+41C>G" "r.(=)" "p.(=)" "" "0000006750" "00000639" "50" "69" "210" "69" "210" "c.69+210G>C" "r.(=)" "p.(=)" "" "0000006751" "00000639" "50" "185" "-208" "185" "-208" "c.185-208A>C" "r.(=)" "p.(=)" "" "0000006752" "00000639" "50" "280" "254" "280" "254" "c.280+254G>A" "r.(=)" "p.(=)" "" "0000006753" "00000639" "50" "280" "288" "280" "288" "c.280+288G>A" "r.(=)" "p.(=)" "" "0000006754" "00000639" "50" "281" "-199" "281" "-199" "c.281-199T>A" "r.(=)" "p.(=)" "" "0000006755" "00000639" "50" "331" "-267" "331" "-267" "c.331-267C>G" "r.(=)" "p.(=)" "" "0000006756" "00000639" "50" "331" "-78" "331" "-78" "c.331-78G>A" "r.(=)" "p.(=)" "" "0000006757" "00000639" "50" "466" "217" "466" "217" "c.466+217A>C" "r.(=)" "p.(=)" "" "0000006758" "00000639" "50" "467" "-351" "467" "-351" "c.467-351G>A" "r.(=)" "p.(=)" "" "0000008816" "00000639" "50" "-21" "333" "-21" "333" "c.-21+333T>A" "r.(=)" "p.(=)" "" "0000008817" "00000639" "50" "69" "41" "69" "41" "c.69+41C>G" "r.(=)" "p.(=)" "" "0000008818" "00000639" "50" "69" "210" "69" "210" "c.69+210G>C" "r.(=)" "p.(=)" "" "0000008819" "00000639" "50" "185" "-208" "185" "-208" "c.185-208A>C" "r.(=)" "p.(=)" "" "0000008820" "00000639" "50" "280" "180" "280" "181" "c.280+180_280+181insCA" "r.(=)" "p.(=)" "" "0000008821" "00000639" "50" "281" "-199" "281" "-199" "c.281-199T>A" "r.(=)" "p.(=)" "" "0000008822" "00000639" "50" "331" "-267" "331" "-267" "c.331-267C>G" "r.(=)" "p.(=)" "" "0000008823" "00000639" "50" "331" "-78" "331" "-78" "c.331-78G>A" "r.(=)" "p.(=)" "" "0000008824" "00000639" "50" "466" "217" "466" "217" "c.466+217A>C" "r.(=)" "p.(=)" "" "0000008825" "00000639" "50" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(=)" "" "0000008826" "00000639" "50" "700" "0" "700" "0" "c.*133dup" "r.(=)" "p.(=)" "" "0000008827" "00000639" "50" "885" "0" "885" "0" "c.*318C>G" "r.(=)" "p.(=)" "" "0000008828" "00000639" "50" "997" "0" "997" "0" "c.*430G>A" "r.(=)" "p.(=)" "" "0000010936" "00000639" "50" "280" "180" "280" "181" "c.280+180_280+181insCA" "r.(=)" "p.(=)" "" "0000010937" "00000639" "50" "331" "-319" "331" "-319" "c.331-319del" "r.(=)" "p.(=)" "" "0000010938" "00000639" "50" "700" "0" "700" "0" "c.*133dup" "r.(=)" "p.(=)" "" "0000010939" "00000639" "50" "997" "0" "998" "0" "c.*430_*431insAGAGAGA" "r.(=)" "p.(=)" "" "0000014721" "00000639" "50" "280" "254" "280" "254" "c.280+254G>A" "r.(=)" "p.(=)" "" "0000014722" "00000639" "50" "280" "288" "280" "288" "c.280+288G>A" "r.(=)" "p.(=)" "" "0000014727" "00000639" "50" "467" "-351" "467" "-351" "c.467-351G>A" "r.(=)" "p.(=)" "" "0000315756" "00000639" "30" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Pro109=)" "" "0000333968" "00000639" "50" "74" "0" "74" "0" "c.74T>G" "r.(?)" "p.(Phe25Cys)" "" "0000333970" "00000639" "50" "156" "0" "156" "0" "c.156G>C" "r.(?)" "p.(Lys52Asn)" "" "0000333971" "00000639" "50" "425" "0" "425" "0" "c.425dup" "r.(?)" "p.(Gly143ArgfsTer7)" "" "0000393376" "00000639" "50" "422" "0" "422" "0" "c.422C>A" "r.(?)" "p.(Pro141His)" "" "0000576187" "00000639" "30" "44" "0" "44" "0" "c.44C>A" "r.(?)" "p.(Ala15Asp)" "" "0000576188" "00000639" "30" "64" "0" "64" "0" "c.64A>C" "r.(?)" "p.(Ser22Arg)" "" "0000576189" "00000639" "30" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Pro109Leu)" "" "0000576191" "00000639" "10" "425" "0" "425" "0" "c.425dup" "r.(?)" "p.(Gly143ArgfsTer7)" "" "0000619613" "00000639" "50" "71" "0" "71" "0" "c.71C>A" "r.(?)" "p.(Ala24Asp)" "" "0000619614" "00000639" "50" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Met58Val)" "" "0000619615" "00000639" "50" "293" "0" "293" "0" "c.293dup" "r.(?)" "p.(Met99AspfsTer24)" "" "0000659337" "00000639" "50" "466" "5" "466" "5" "c.466+5G>C" "r.spl?" "p.?" "" "0000728954" "00000639" "50" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Gly156*)" "" "0000810440" "00000639" "50" "500" "0" "500" "0" "c.500G>T" "r.(?)" "p.(Arg167Ile)" "" "0000810441" "00000639" "30" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000856641" "00000639" "30" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Ala29Thr)" "" "0000867400" "00000639" "50" "156" "0" "156" "0" "c.156G>C" "r.(?)" "p.(Lys52Asn)" "" "0000867401" "00000639" "50" "281" "-2" "281" "-2" "c.281-2A>G" "r.spl?" "p.?" "" "0000867402" "00000639" "90" "480" "0" "480" "0" "c.480dup" "r.(?)" "p.(Lys161Glufs*10)" "" "0000919131" "00000639" "90" "185" "0" "186" "0" "c.185_186del" "r.(?)" "p.(Gly62Valfs*11)" "" "0000919132" "00000639" "90" "351" "0" "351" "0" "c.351del" "r.(?)" "p.(Glu118Argfs*58)" "" "0000919133" "00000639" "90" "180" "0" "180" "0" "c.180del" "r.(?)" "p.(Lys60Asnfs*2)" "" "0000919134" "00000639" "90" "412" "0" "413" "0" "c.412_413del" "r.(?)" "p.(Gln138Thrfs*11)" "" "0000919135" "00000639" "90" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Tyr55Cys)" "" "0000919136" "00000639" "90" "571" "1" "571" "1" "c.*4+1G>A" "r.spl" "p.?" "" "0000927382" "00000639" "50" "425" "0" "425" "0" "c.425dup" "r.(?)" "p.(Gly143ArgfsTer7)" "" "0000931421" "00000639" "30" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Ser43Leu)" "" "0000971115" "00000639" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Gln93*)" "" "0001006779" "00000639" "50" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Glu184Gln)" "" "0001044355" "00000639" "30" "571" "1" "571" "1" "c.*4+1G>T" "r.spl?" "p.?" "" "0001046866" "00000639" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001909" "0000000209" "0000001910" "0000000209" "0000001911" "0000000209" "0000002934" "0000000209" "0000002935" "0000000209" "0000002936" "0000000209" "0000002937" "0000000209" "0000002938" "0000000209" "0000006748" "0000000209" "0000006749" "0000000209" "0000006750" "0000000209" "0000006751" "0000000209" "0000006752" "0000000209" "0000006753" "0000000209" "0000006754" "0000000209" "0000006755" "0000000209" "0000006756" "0000000209" "0000006757" "0000000209" "0000006758" "0000000210" "0000008816" "0000000210" "0000008817" "0000000210" "0000008818" "0000000210" "0000008819" "0000000210" "0000008820" "0000000210" "0000008821" "0000000210" "0000008822" "0000000210" "0000008823" "0000000210" "0000008824" "0000000210" "0000008825" "0000000210" "0000008826" "0000000210" "0000008827" "0000000210" "0000008828" "0000000210" "0000010936" "0000000210" "0000010937" "0000000210" "0000010938" "0000000210" "0000010939" "0000000210" "0000014721" "0000000210" "0000014722" "0000000210" "0000014727" "0000173519" "0000393376" "0000433502" "0000919131" "0000433503" "0000919132" "0000433504" "0000919133" "0000433505" "0000919134" "0000433506" "0000919135" "0000433507" "0000919136"