### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SMARCA1)
# 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}}"
"SMARCA1"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1"	"X"	"q25"	"unknown"	"NG_012526.1"	"UD_132085417286"	""	"https://www.LOVD.nl/SMARCA1"	""	"1"	"11097"	"6594"	"300012"	"1"	"1"	"1"	"1"	"This gene sequence variant database has been initiated based on the data reported by <a href=\"http://www.ncbi.nlm.nih.gov/pubmed/19377476\">Tarpey et al. (2009) <i>A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543</i></a>. 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.<BR>Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00000"	"2009-03-06 00:00:00"	"00006"	"2018-01-12 18:14:16"	"00000"	"2024-10-29 21:08:56"


## 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}}"
"00000569"	"SMARCA1"	"transcript variant 1"	"002"	"NM_003069.3"	""	"NP_003060.2"	""	""	""	"-113"	"3973"	"3165"	"128580478"	"128657460"	"00000"	"2012-09-13 12:33:14"	""	""


## 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}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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"	""	""	""	""
"00150219"	""	""	""	"1"	""	"00006"	"{PMID:Karaca 2015:26539891}"	"2-generation family, 1 affected, unaffected heterozugous carrier parents"	"M"	"yes"	""	""	"0"	"family structure in paper"	""	""	"26539891-FamBAB4453"
"00173364"	""	""	""	"3"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173365"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173627"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00173639"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00318024"	""	""	""	"1"	""	"00006"	"{PMID:Riazuddin 2017:27457812}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	"Punjabi"	"PKMR142"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00150219"	"00198"
"00173364"	"00187"
"00173365"	"00187"
"00173627"	"00187"
"00173639"	"00187"
"00318024"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01157
## Count = 7
"{{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/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"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"	""	""	""	""	""	""	""	""	""
"0000122621"	"00198"	"00150219"	"00006"	"Unknown"	""	"intellectual diability, microcephaly, spasticity, cortical atrophy, Coffin-Syris-like dysmorphic features"	""	""	""	""	""	""	""	""	""	""	""	""
"0000138228"	"00187"	"00173364"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000138229"	"00187"	"00173365"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000138491"	"00187"	"00173627"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000138503"	"00187"	"00173639"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000241808"	"00139"	"00318024"	"00006"	"Familial, autosomal recessive"	""	"Moderate ID, aggressive, speaking problem, elongated faces."	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""


## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{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"	""	""
"0000151074"	"00150219"	"1"	"00006"	"00006"	"2018-01-13 12:41:38"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000174247"	"00173364"	"1"	"00124"	"00006"	"2009-04-08 14:04:23"	"00006"	"2009-05-19 12:34:20"	"SEQ"	"DNA"	""	""
"0000174248"	"00173365"	"1"	"00124"	"00006"	"2009-04-08 14:04:23"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000174510"	"00173627"	"1"	"00124"	"00006"	"2009-04-08 14:04:23"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000174522"	"00173639"	"1"	"00124"	"00006"	"2009-04-08 14:04:23"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000319206"	"00318024"	"1"	"00006"	"00006"	"2020-11-05 17:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000151074"	"SMARCA1"
"0000174247"	"SYTL4"
"0000174248"	"TAF7L"
"0000174510"	"GNL3L"
"0000174522"	"ARMCX5"
"0000319206"	"SMARCA1"


## 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 = 42
"{{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}}"
"0000002144"	"0"	"50"	"X"	"128630998"	"128630999"	"del"	"0"	"00037"	"SMARCA1_000005"	"g.128630998_128630999del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.129497021_129497022del"	""	"VUS"	""
"0000003223"	"0"	"50"	"X"	"128630976"	"128630977"	"del"	"0"	"00037"	"SMARCA1_000006"	"g.128630976_128630977del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.129496999_129497000del"	""	"VUS"	""
"0000244242"	"3"	"90"	"X"	"128657341"	"128657341"	"subst"	"0"	"00006"	"SMARCA1_000007"	"g.128657341G>A"	""	"{PMID:Karaca 2015:26539891}"	""	"NM_003069: c.C7T; p.Q3X"	""	"Germline"	""	""	"0"	""	""	"g.129523364G>A"	""	"pathogenic"	""
"0000335466"	"0"	"50"	"X"	"128615056"	"128615056"	"subst"	"0.00060478"	"01804"	"SMARCA1_000008"	"g.128615056G>T"	""	""	""	"SMARCA1(NM_003069.3):c.2324C>A (p.(Pro775Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.129481079G>T"	""	"VUS"	""
"0000401296"	"1"	"30"	"X"	"128633717"	"128633717"	"subst"	"0.0193373"	"00124"	"SMARCA1_000011"	"g.128633717T>C"	"3/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"Q423Q"	"recurrent, found 3 times"	"Germline"	""	""	"0"	""	""	"g.129499740T>C"	""	"likely benign"	""
"0000401297"	"1"	"30"	"X"	"128630745"	"128630745"	"subst"	"0.00127037"	"00124"	"SMARCA1_000010"	"g.128630745G>A"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"T536T"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.129496768G>A"	""	"likely benign"	""
"0000401298"	"1"	"50"	"X"	"128642061"	"128642061"	"subst"	"0.00261775"	"00124"	"SMARCA1_000012"	"g.128642061G>A"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"R275C"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.129508084G>A"	""	"VUS"	""
"0000401299"	"1"	"50"	"X"	"128621095"	"128621095"	"subst"	"2.4884E-5"	"00124"	"SMARCA1_000009"	"g.128621095C>T"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"R706H"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.129487118C>T"	""	"VUS"	""
"0000573408"	"0"	"50"	"X"	"128582408"	"128582408"	"subst"	"5.86985E-6"	"02327"	"SMARCA1_000013"	"g.128582408G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129448431G>A"	""	"VUS"	""
"0000573409"	"0"	"30"	"X"	"128602791"	"128602791"	"subst"	"0"	"02327"	"SMARCA1_000014"	"g.128602791T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129468814T>A"	""	"likely benign"	""
"0000573410"	"0"	"30"	"X"	"128624163"	"128624163"	"subst"	"0"	"02327"	"SMARCA1_000015"	"g.128624163C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129490186C>T"	""	"likely benign"	""
"0000573411"	"0"	"50"	"X"	"128645816"	"128645816"	"subst"	"0"	"01943"	"SMARCA1_000016"	"g.128645816G>C"	""	""	""	"SMARCA1(NM_003069.4):c.775C>G (p.R259G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129511839G>C"	""	"VUS"	""
"0000573412"	"0"	"30"	"X"	"128657191"	"128657191"	"subst"	"3.39443E-5"	"01943"	"SMARCA1_000017"	"g.128657191C>T"	""	""	""	"SMARCA1(NM_003069.4):c.157G>A (p.G53S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129523214C>T"	""	"likely benign"	""
"0000618980"	"0"	"50"	"X"	"128630743"	"128630743"	"subst"	"1.74187E-5"	"01943"	"SMARCA1_000018"	"g.128630743G>A"	""	""	""	"SMARCA1(NM_003069.4):c.1610C>T (p.P537L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129496766G>A"	""	"VUS"	""
"0000618981"	"0"	"50"	"X"	"128645896"	"128645896"	"subst"	"0"	"01943"	"SMARCA1_000019"	"g.128645896G>C"	""	""	""	"SMARCA1(NM_003069.4):c.695C>G (p.P232R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129511919G>C"	""	"VUS"	""
"0000624410"	"0"	"30"	"X"	"128657183"	"128657183"	"subst"	"2.83004E-5"	"01943"	"SMARCA1_000020"	"g.128657183C>G"	""	""	""	"SMARCA1(NM_003069.4):c.165G>C (p.K55N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129523206C>G"	""	"likely benign"	""
"0000659074"	"0"	"50"	"X"	"128602779"	"128602779"	"subst"	"5.82744E-6"	"02325"	"SMARCA1_000021"	"g.128602779T>C"	""	""	""	"SMARCA1(NM_003069.5):c.2669A>G (p.K890R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129468802T>C"	""	"VUS"	""
"0000659075"	"0"	"30"	"X"	"128605187"	"128605187"	"subst"	"3.11278E-5"	"01943"	"SMARCA1_000022"	"g.128605187G>A"	""	""	""	"SMARCA1(NM_003069.4):c.2559C>T (p.L853=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.129471210G>A"	""	"likely benign"	""
"0000701870"	"3"	"50"	"X"	"128657269"	"128657269"	"subst"	"2.32956E-5"	"00006"	"SMARCA1_000023"	"g.128657269C>T"	""	"{PMID:Riazuddin 2017:27457812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.129523292C>T"	""	"VUS"	""
"0000728399"	"0"	"50"	"X"	"128599852"	"128599852"	"subst"	"3.16142E-5"	"02325"	"SMARCA1_000024"	"g.128599852C>T"	""	""	""	"SMARCA1(NM_003069.5):c.2786G>A (p.R929K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728400"	"0"	"50"	"X"	"128602843"	"128602843"	"subst"	"0"	"01943"	"SMARCA1_000025"	"g.128602843T>A"	""	""	""	"SMARCA1(NM_003069.4):c.2605A>T (p.I869F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728401"	"0"	"50"	"X"	"128638728"	"128638728"	"subst"	"1.68846E-5"	"02325"	"SMARCA1_000026"	"g.128638728C>T"	""	""	""	"SMARCA1(NM_003069.5):c.1150G>A (p.V384M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000809860"	"0"	"50"	"X"	"128624133"	"128624133"	"subst"	"0"	"01943"	"SMARCA1_000027"	"g.128624133G>A"	""	""	""	"SMARCA1(NM_003069.4):c.1852C>T (p.R618C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000809861"	"0"	"50"	"X"	"128630845"	"128630845"	"subst"	"0"	"01943"	"SMARCA1_000028"	"g.128630845G>A"	""	""	""	"SMARCA1(NM_003069.4):c.1508C>T (p.S503L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000809862"	"0"	"30"	"X"	"128645937"	"128645937"	"subst"	"0.000130095"	"01943"	"SMARCA1_000029"	"g.128645937T>C"	""	""	""	"SMARCA1(NM_003069.4):c.654A>G (p.T218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809863"	"0"	"30"	"X"	"128657260"	"128657260"	"subst"	"9.87499E-5"	"01943"	"SMARCA1_000030"	"g.128657260C>G"	""	""	""	"SMARCA1(NM_003069.4):c.88G>C (p.G30R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856330"	"0"	"30"	"X"	"128599623"	"128599623"	"subst"	"0.000143506"	"01943"	"SMARCA1_000031"	"g.128599623T>C"	""	""	""	"SMARCA1(NM_003069.4):c.2904A>G (p.R968=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856331"	"0"	"30"	"X"	"128649963"	"128649963"	"subst"	"5.21555E-5"	"02327"	"SMARCA1_000034"	"g.128649963T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867024"	"0"	"30"	"X"	"128614753"	"128614753"	"subst"	"5.27406E-5"	"01943"	"SMARCA1_000032"	"g.128614753A>G"	""	""	""	"SMARCA1(NM_003069.4):c.2367T>C (p.F789=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867025"	"0"	"50"	"X"	"128631896"	"128631896"	"subst"	"3.92163E-5"	"01943"	"SMARCA1_000033"	"g.128631896G>C"	""	""	""	"SMARCA1(NM_003069.4):c.1430C>G (p.T477S), SMARCA1(NM_003069.5):c.1430C>G (p.T477S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867026"	"0"	"50"	"X"	"128631896"	"128631896"	"subst"	"3.92163E-5"	"02325"	"SMARCA1_000033"	"g.128631896G>C"	""	""	""	"SMARCA1(NM_003069.4):c.1430C>G (p.T477S), SMARCA1(NM_003069.5):c.1430C>G (p.T477S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895917"	"0"	"50"	"X"	"128630779"	"128630779"	"subst"	"3.36642E-5"	"02325"	"SMARCA1_000035"	"g.128630779C>T"	""	""	""	"SMARCA1(NM_003069.5):c.1574G>A (p.R525H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895918"	"0"	"30"	"X"	"128645948"	"128645948"	"subst"	"0"	"02327"	"SMARCA1_000036"	"g.128645948T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915600"	"0"	"50"	"X"	"128640152"	"128640152"	"subst"	"2.8012E-5"	"02327"	"SMARCA1_000037"	"g.128640152G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000927251"	"0"	"50"	"X"	"128582347"	"128582347"	"subst"	"2.25038E-5"	"02325"	"SMARCA1_000038"	"g.128582347C>T"	""	""	""	"SMARCA1(NM_003069.5):c.3104G>A (p.R1035K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000984441"	"0"	"50"	"X"	"128615113"	"128615113"	"subst"	"0.000131254"	"02325"	"SMARCA1_000039"	"g.128615113T>C"	""	""	""	"SMARCA1(NM_003069.5):c.2267A>G (p.N756S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000984442"	"0"	"50"	"X"	"128630753"	"128630753"	"subst"	"0"	"02325"	"SMARCA1_000040"	"g.128630753C>T"	""	""	""	"SMARCA1(NM_003069.5):c.1600G>A (p.G534R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006409"	"0"	"50"	"X"	"128602767"	"128602767"	"subst"	"0"	"01804"	"SMARCA1_000041"	"g.128602767T>A"	""	""	""	"SMARCA1(NM_003069.3):c.2681A>T (p.(Glu894Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006410"	"0"	"50"	"X"	"128605227"	"128605227"	"subst"	"0"	"01804"	"SMARCA1_000042"	"g.128605227G>A"	""	""	""	"SMARCA1(NM_003069.3):c.2519C>T (p.(Pro840Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006411"	"0"	"10"	"X"	"128657329"	"128657329"	"subst"	"0"	"01804"	"SMARCA1_000043"	"g.128657329C>T"	""	""	""	"SMARCA1(NM_003069.3):c.19G>A (p.(Ala7Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001006412"	"0"	"30"	"X"	"128657340"	"128657340"	"subst"	"7.27596E-6"	"01804"	"SMARCA1_000044"	"g.128657340T>C"	""	""	""	"SMARCA1(NM_003069.3):c.8A>G (p.(Gln3Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015982"	"0"	"50"	"X"	"128657301"	"128657301"	"subst"	"0"	"02325"	"SMARCA1_000045"	"g.128657301T>C"	""	""	""	"SMARCA1(NM_003069.5):c.47A>G (p.D16G)"	"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 SMARCA1
## Count = 42
"{{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}}"
"0000002144"	"00000569"	"50"	"1505"	"-130"	"1505"	"-129"	"c.1505-130_1505-129del"	"r.(=)"	"p.(=)"	""
"0000003223"	"00000569"	"50"	"1505"	"-129"	"1505"	"-128"	"c.1505-129_1505-128del"	"r.(=)"	"p.(=)"	""
"0000244242"	"00000569"	"90"	"7"	"0"	"7"	"0"	"c.7C>T"	"r.(?)"	"p.(Gln3*)"	""
"0000335466"	"00000569"	"50"	"2324"	"0"	"2324"	"0"	"c.2324C>A"	"r.(?)"	"p.(Pro775Gln)"	""
"0000401296"	"00000569"	"30"	"1269"	"0"	"1269"	"0"	"c.1269A>G"	"r.(?)"	"p.(=)"	"10"
"0000401297"	"00000569"	"30"	"1608"	"0"	"1608"	"0"	"c.1608C>T"	"r.(?)"	"p.(=)"	"12"
"0000401298"	"00000569"	"50"	"823"	"0"	"823"	"0"	"c.823C>T"	"r.(?)"	"p.(Arg275Cys)"	"7"
"0000401299"	"00000569"	"50"	"2117"	"0"	"2117"	"0"	"c.2117G>A"	"r.(?)"	"p.(Arg706His)"	"17"
"0000573408"	"00000569"	"50"	"3043"	"0"	"3043"	"0"	"c.3043C>T"	"r.(?)"	"p.(Arg1015Cys)"	""
"0000573409"	"00000569"	"30"	"2657"	"0"	"2657"	"0"	"c.2657A>T"	"r.(?)"	"p.(Glu886Val)"	""
"0000573410"	"00000569"	"30"	"1822"	"0"	"1822"	"0"	"c.1822G>A"	"r.(?)"	"p.(Ala608Thr)"	""
"0000573411"	"00000569"	"50"	"775"	"0"	"775"	"0"	"c.775C>G"	"r.(?)"	"p.(Arg259Gly)"	""
"0000573412"	"00000569"	"30"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Gly53Ser)"	""
"0000618980"	"00000569"	"50"	"1610"	"0"	"1610"	"0"	"c.1610C>T"	"r.(?)"	"p.(Pro537Leu)"	""
"0000618981"	"00000569"	"50"	"695"	"0"	"695"	"0"	"c.695C>G"	"r.(?)"	"p.(Pro232Arg)"	""
"0000624410"	"00000569"	"30"	"165"	"0"	"165"	"0"	"c.165G>C"	"r.(?)"	"p.(Lys55Asn)"	""
"0000659074"	"00000569"	"50"	"2669"	"0"	"2669"	"0"	"c.2669A>G"	"r.(?)"	"p.(Lys890Arg)"	""
"0000659075"	"00000569"	"30"	"2559"	"0"	"2559"	"0"	"c.2559C>T"	"r.(?)"	"p.(Leu853=)"	""
"0000701870"	"00000569"	"50"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000728399"	"00000569"	"50"	"2786"	"0"	"2786"	"0"	"c.2786G>A"	"r.(?)"	"p.(Arg929Lys)"	""
"0000728400"	"00000569"	"50"	"2605"	"0"	"2605"	"0"	"c.2605A>T"	"r.(?)"	"p.(Ile869Phe)"	""
"0000728401"	"00000569"	"50"	"1150"	"0"	"1150"	"0"	"c.1150G>A"	"r.(?)"	"p.(Val384Met)"	""
"0000809860"	"00000569"	"50"	"1852"	"0"	"1852"	"0"	"c.1852C>T"	"r.(?)"	"p.(Arg618Cys)"	""
"0000809861"	"00000569"	"50"	"1508"	"0"	"1508"	"0"	"c.1508C>T"	"r.(?)"	"p.(Ser503Leu)"	""
"0000809862"	"00000569"	"30"	"654"	"0"	"654"	"0"	"c.654A>G"	"r.(?)"	"p.(Thr218=)"	""
"0000809863"	"00000569"	"30"	"88"	"0"	"88"	"0"	"c.88G>C"	"r.(?)"	"p.(Gly30Arg)"	""
"0000856330"	"00000569"	"30"	"2904"	"0"	"2904"	"0"	"c.2904A>G"	"r.(?)"	"p.(Arg968=)"	""
"0000856331"	"00000569"	"30"	"437"	"0"	"437"	"0"	"c.437A>G"	"r.(?)"	"p.(His146Arg)"	""
"0000867024"	"00000569"	"30"	"2367"	"0"	"2367"	"0"	"c.2367T>C"	"r.(?)"	"p.(Phe789=)"	""
"0000867025"	"00000569"	"50"	"1430"	"0"	"1430"	"0"	"c.1430C>G"	"r.(?)"	"p.(Thr477Ser)"	""
"0000867026"	"00000569"	"50"	"1430"	"0"	"1430"	"0"	"c.1430C>G"	"r.(?)"	"p.(Thr477Ser)"	""
"0000895917"	"00000569"	"50"	"1574"	"0"	"1574"	"0"	"c.1574G>A"	"r.(?)"	"p.(Arg525His)"	""
"0000895918"	"00000569"	"30"	"643"	"0"	"643"	"0"	"c.643A>G"	"r.(?)"	"p.(Thr215Ala)"	""
"0000915600"	"00000569"	"50"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335Cys)"	""
"0000927251"	"00000569"	"50"	"3104"	"0"	"3104"	"0"	"c.3104G>A"	"r.(?)"	"p.(Arg1035Lys)"	""
"0000984441"	"00000569"	"50"	"2267"	"0"	"2267"	"0"	"c.2267A>G"	"r.(?)"	"p.(Asn756Ser)"	""
"0000984442"	"00000569"	"50"	"1600"	"0"	"1600"	"0"	"c.1600G>A"	"r.(?)"	"p.(Gly534Arg)"	""
"0001006409"	"00000569"	"50"	"2681"	"0"	"2681"	"0"	"c.2681A>T"	"r.(?)"	"p.(Glu894Val)"	""
"0001006410"	"00000569"	"50"	"2519"	"0"	"2519"	"0"	"c.2519C>T"	"r.(?)"	"p.(Pro840Leu)"	""
"0001006411"	"00000569"	"10"	"19"	"0"	"19"	"0"	"c.19G>A"	"r.(?)"	"p.(Ala7Thr)"	""
"0001006412"	"00000569"	"30"	"8"	"0"	"8"	"0"	"c.8A>G"	"r.(?)"	"p.(Gln3Arg)"	""
"0001015982"	"00000569"	"50"	"47"	"0"	"47"	"0"	"c.47A>G"	"r.(?)"	"p.(Asp16Gly)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000002144"
"0000000209"	"0000003223"
"0000151074"	"0000244242"
"0000174247"	"0000401296"
"0000174248"	"0000401297"
"0000174510"	"0000401298"
"0000174522"	"0000401299"
"0000319206"	"0000701870"