### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CEP57)
# 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}}"
"CEP57"	"centrosomal protein 57kDa"	"11"	"q21"	"unknown"	"NG_029829.1"	"UD_136019429224"	""	"https://www.LOVD.nl/CEP57"	""	"1"	"30794"	"9702"	"607951"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/CEP57_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-06-27 00:00:00"	"00006"	"2017-06-26 15:11:30"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00004981"	"CEP57"	"transcript variant 1"	"002"	"NM_014679.4"	""	"NP_055494.2"	""	""	""	"-238"	"2940"	"1503"	"95523625"	"95565857"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03553"	"MVA2"	"mosaic variegated aneuploidy syndrome, type 2 (MVA2)"	"AR"	"614114"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-06-09 08:58:04"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05562"	"SPGF"	"spermatogenic failure (SPGF)"	""	""	""	""	""	"00006"	"2019-02-13 22:06:30"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CEP57"	"03553"


## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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}}"
"00106626"	""	""	""	"1"	""	"00006"	"{PMID:Snape 2011:21552266}, {PMID:Newman 2003:14524360}, {PMID:Hanks2004:15475955}"	"male child of first-cousins (consanguineous parents)"	""	""	"United Kingdom (Great Britain)"	"00y00m21d"	"0"	""	""	"white"	""
"00106627"	""	""	""	"2"	""	"00006"	"{PMID:Garcia-Castillo 2008:18548531}, {PMID:Snape 2011:21552266}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parentsbrother of patient 663_2"	"M"	""	"Mexico"	""	"0"	""	""	""	"Pat663_1"
"00106628"	""	""	"00106627"	"1"	""	"00006"	"{PMID:Snape 2011:21552266}"	"sister of patient 663_1"	"F"	""	"Mexico"	""	"0"	""	""	""	"Pat663_2"
"00106629"	""	""	""	"1"	""	"00006"	"{PMID:Snape 2011:21552266}, {PMID:Lane 2002:12116237}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	"white"	"Pat657"
"00260880"	""	""	""	"2"	""	"00006"	"{PMID:Kasak 2009:30075111}"	"3-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Estonia"	""	"0"	""	""	""	"FamPat1/2"
"00290563"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00398240"	""	""	""	"1"	""	"00663"	""	""	"M"	"likely"	"Egypt"	""	""	""	""	""	""
"00415270"	""	""	""	"1"	""	"00000"	"{PMID:Alfares 2018:30202406}"	""	"F"	""	""	""	"0"	""	""	""	"25"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}"	"{{diseaseid}}"
"00106626"	"03553"
"00106627"	"03553"
"00106628"	"03553"
"00106629"	"03553"
"00260880"	"05562"
"00290563"	"00198"
"00398240"	"03553"
"00415270"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03553, 04214, 05562
## Count = 7
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000084433"	"03553"	"00106626"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., mosaic variegated aneuploidy syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000084434"	"03553"	"00106627"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., mosaic variegated aneuploidy syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000084435"	"03553"	"00106628"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., mosaic variegated aneuploidy syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000084436"	"03553"	"00106629"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., mosaic variegated aneuploidy syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000199414"	"05562"	"00260880"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	"SPGF-28"	"non-obstructive azoospermia"	""
"0000291351"	"03553"	"00398240"	"00663"	"Familial, autosomal recessive"	""	"IUGR, short stature, facial dysmorphisms"	""	""	""	""	""	""	""	""	""	"MVA2"	""
"0000307068"	"04214"	"00415270"	"00000"	"Familial, autosomal recessive"	""	"OMIM: 614114; developmental delay, dysmorphic facial features, pulmonary hypertension, and right solitary kidney"	""	""	""	""	""	""	""	""	"Mosaic Variegated aneuploidy Syndrome 2"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000107097"	"00106626"	"0"	"00006"	"00002"	"2011-06-27 14:53:18"	"00004"	"2011-06-30 15:42:50"	"SEQ"	"DNA"	""	""
"0000107098"	"00106627"	"0"	"00006"	"00002"	"2011-06-27 14:53:18"	""	""	"SEQ"	"DNA"	""	""
"0000107099"	"00106628"	"0"	"00006"	"00002"	"2011-06-27 14:53:18"	""	""	"SEQ"	"DNA"	""	""
"0000107100"	"00106629"	"0"	"00006"	"00002"	"2011-06-27 14:53:18"	"00004"	"2011-06-30 15:42:50"	"SEQ"	"DNA"	""	""
"0000261984"	"00260880"	"1"	"00006"	"00006"	"2019-08-09 12:46:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000291731"	"00290563"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000399562"	"00398240"	"1"	"00663"	"00663"	"2022-01-04 08:05:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000416552"	"00415270"	"1"	"00000"	"03840"	"2022-08-10 20:39:58"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing done at a commercial CAPaccredited laboratory"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{geneid}}"
"0000107097"	"CEP57"
"0000107098"	"CEP57"
"0000107099"	"CEP57"
"0000107100"	"CEP57"
"0000261984"	"FANCM"
"0000399562"	"CEP57"
"0000416552"	"CEP57"


## 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 = 47
"{{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}}"
"0000172839"	"3"	"70"	"11"	"95546134"	"95546134"	"subst"	"4.06329E-6"	"00006"	"CEP57_000003"	"g.95546134C>T"	""	"{PMID:Snape 2011:21552266}, {PMID:Newman 2003:14524360}, {PMID:Hanks2004:15475955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.95812970C>T"	""	"pathogenic (recessive)"	""
"0000172841"	"11"	"70"	"11"	"95550966"	"95550967"	"del"	"0"	"00006"	"CEP57_000001"	"g.95550966_95550967del"	""	"{PMID:Garcia-Castillo 2008:18548531}, {PMID:Snape 2011:21552266}"	""	"520_521delGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.95817802_95817803del"	""	"pathogenic (recessive)"	""
"0000172842"	"11"	"70"	"11"	"95550966"	"95550967"	"del"	"0"	"00006"	"CEP57_000001"	"g.95550966_95550967del"	""	"{PMID:Snape 2011:21552266}"	""	"520_521delGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.95817802_95817803del"	""	"pathogenic (recessive)"	""
"0000172843"	"21"	"70"	"11"	"95560979"	"95560989"	"dup"	"0"	"00006"	"CEP57_000002"	"g.95560979_95560989dup"	""	"{PMID:Garcia-Castillo 2008:18548531}, {PMID:Snape 2011:21552266}"	""	"915_925dup11"	""	"Germline"	"yes"	""	"0"	""	""	"g.95827815_95827825dup"	""	"pathogenic (recessive)"	""
"0000172844"	"21"	"70"	"11"	"95560979"	"95560989"	"dup"	"0"	"00006"	"CEP57_000002"	"g.95560979_95560989dup"	""	"{PMID:Snape 2011:21552266}"	""	"915_925dup11"	""	"Germline"	"yes"	""	"0"	""	""	"g.95827815_95827825dup"	""	"pathogenic (recessive)"	""
"0000172845"	"3"	"70"	"11"	"95560979"	"95560989"	"dup"	"0"	"00006"	"CEP57_000002"	"g.95560979_95560989dup"	""	"{PMID:Snape 2011:21552266}, {PMID:Lane 2002:12116237}"	""	"915_925dup11"	""	"Germline"	""	""	"0"	""	""	"g.95827815_95827825dup"	""	"pathogenic (recessive)"	""
"0000254766"	"0"	"30"	"11"	"95546671"	"95546671"	"subst"	"0.00017557"	"01943"	"CEP57_000005"	"g.95546671A>G"	""	""	""	"CEP57(NM_001243776.1):c.395A>G (p.(Asn132Ser)), CEP57(NM_014679.3):c.422A>G (p.N141S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95813507A>G"	""	"likely benign"	""
"0000280052"	"0"	"10"	"11"	"95569448"	"95569448"	"subst"	"0.00282233"	"02330"	"MTMR2_000034"	"g.95569448T>C"	""	""	""	"MTMR2(NM_001243571.2):c.1418A>G (p.N473S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95836284T>C"	""	"benign"	""
"0000280053"	"0"	"90"	"11"	"95569333"	"95569333"	"subst"	"0"	"02330"	"MTMR2_000033"	"g.95569333C>T"	""	""	""	"MTMR2(NM_001243571.2):c.1533G>A (p.W511*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95836169C>T"	""	"pathogenic"	""
"0000280054"	"0"	"10"	"11"	"95569326"	"95569326"	"subst"	"0.0352387"	"02330"	"MTMR2_000017"	"g.95569326G>T"	""	""	""	"MTMR2(NM_001243571.2):c.1540C>A (p.R514=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95836162G>T"	""	"benign"	""
"0000280055"	"0"	"90"	"11"	"95568581"	"95568581"	"subst"	"0.00199595"	"02330"	"MTMR2_000032"	"g.95568581G>C"	""	""	""	"MTMR2(NM_001243571.2):c.1589C>G (p.A530G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95835417G>C"	""	"pathogenic"	""
"0000280056"	"0"	"50"	"11"	"95568524"	"95568524"	"subst"	"0.000640184"	"02330"	"MTMR2_000031"	"g.95568524C>T"	""	""	""	"MTMR2(NM_001243571.2):c.1646G>A (p.R549Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95835360C>T"	""	"VUS"	""
"0000322456"	"0"	"30"	"11"	"95519380"	"95519380"	"subst"	"0.00129564"	"01804"	"FAM76B_000001"	"g.95519380C>T"	""	""	""	"FAM76B(NM_144664.4):c.266G>A (p.(Arg89His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95786216C>T"	""	"likely benign"	""
"0000322457"	"0"	"30"	"11"	"95546226"	"95546226"	"subst"	"0.00566306"	"01804"	"CEP57_000004"	"g.95546226G>C"	""	""	""	"CEP57(NM_001243776.1):c.306G>C (p.(Gln102His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.95813062G>C"	""	"likely benign"	""
"0000546120"	"0"	"30"	"11"	"95528675"	"95528675"	"subst"	"0"	"01804"	"CEP57_000007"	"g.95528675C>T"	""	""	""	"CEP57(NM_001243776.1):c.-26-5C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95795511C>T"	""	"likely benign"	""
"0000546121"	"0"	"30"	"11"	"95528678"	"95528678"	"subst"	"3.0977E-5"	"01804"	"CEP57_000008"	"g.95528678A>T"	""	""	""	"CEP57(NM_001243776.1):c.-26-2A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95795514A>T"	""	"likely benign"	""
"0000546122"	"0"	"30"	"11"	"95528678"	"95528679"	"del"	"0"	"01804"	"CEP57_000009"	"g.95528678_95528679del"	""	""	""	"CEP57(NM_001243776.1):c.-26-2_-26-1del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95795514_95795515del"	""	"likely benign"	""
"0000546123"	"0"	"30"	"11"	"95528679"	"95528679"	"subst"	"0"	"01804"	"CEP57_000010"	"g.95528679G>T"	""	""	""	"CEP57(NM_001243776.1):c.-26-1G>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95795515G>T"	""	"likely benign"	""
"0000546124"	"0"	"50"	"11"	"95546119"	"95546119"	"subst"	"3.25042E-5"	"01804"	"CEP57_000011"	"g.95546119C>G"	""	""	""	"CEP57(NM_014679.5):c.226C>G (p.(Leu76Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95812955C>G"	""	"VUS"	""
"0000546125"	"0"	"30"	"11"	"95546671"	"95546671"	"subst"	"0.00017557"	"01804"	"CEP57_000005"	"g.95546671A>G"	""	""	""	"CEP57(NM_001243776.1):c.395A>G (p.(Asn132Ser)), CEP57(NM_014679.3):c.422A>G (p.N141S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95813507A>G"	""	"likely benign"	""
"0000546126"	"0"	"30"	"11"	"95546739"	"95546739"	"subst"	"0"	"01804"	"CEP57_000012"	"g.95546739G>A"	""	""	""	"CEP57(NM_001243776.1):c.463G>A (p.(Val155Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95813575G>A"	""	"likely benign"	""
"0000546127"	"0"	"30"	"11"	"95546750"	"95546750"	"subst"	"0.000130716"	"01943"	"CEP57_000013"	"g.95546750A>G"	""	""	""	"CEP57(NM_014679.3):c.501A>G (p.K167=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95813586A>G"	""	"likely benign"	""
"0000546128"	"0"	"30"	"11"	"95555145"	"95555145"	"subst"	"0.00172082"	"01943"	"CEP57_000014"	"g.95555145G>A"	""	""	""	"CEP57(NM_014679.3):c.807+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95821981G>A"	""	"likely benign"	""
"0000546130"	"0"	"10"	"11"	"95564259"	"95564259"	"subst"	"0.297175"	"02325"	"CEP57_000016"	"g.95564259A>G"	""	""	""	"CEP57(NM_001243776.2):c.1315A>G (p.R439G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95831095A>G"	""	"benign"	""
"0000546131"	"0"	"50"	"11"	"95564285"	"95564285"	"del"	"0"	"01804"	"CEP57_000017"	"g.95564285del"	""	""	""	"CEP57(NM_001243776.1):c.1341delC (p.(Thr448GlnfsTer10))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95831121del"	""	"VUS"	""
"0000546132"	"0"	"30"	"11"	"95568489"	"95568489"	"subst"	"0.000171367"	"01943"	"CEP57_000018"	"g.95568489C>T"	""	""	""	"MTMR2(NM_001243571.1):c.1681G>A (p.A561T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95835325C>T"	""	"likely benign"	""
"0000546134"	"0"	"30"	"11"	"95568531"	"95568531"	"subst"	"0.00284512"	"02330"	"CEP57_000019"	"g.95568531A>G"	""	""	""	"MTMR2(NM_001243571.2):c.1639T>C (p.S547P), MTMR2(NM_016156.5):c.1855T>C (p.S619P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95835367A>G"	""	"likely benign"	""
"0000546135"	"0"	"50"	"11"	"95568535"	"95568535"	"subst"	"8.15182E-6"	"02330"	"CEP57_000020"	"g.95568535C>G"	""	""	""	"MTMR2(NM_001243571.2):c.1635G>C (p.E545D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95835371C>G"	""	"VUS"	""
"0000546136"	"0"	"30"	"11"	"95569293"	"95569298"	"del"	"0.000187757"	"02330"	"CEP57_000021"	"g.95569293_95569298del"	""	""	""	"MTMR2(NM_001243571.2):c.1554+14_1554+19delAATATA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95836129_95836134del"	""	"likely benign"	""
"0000546137"	"0"	"30"	"11"	"95569300"	"95569305"	"del"	"0.000179727"	"02330"	"CEP57_000022"	"g.95569300_95569305del"	""	""	""	"MTMR2(NM_001243571.2):c.1554+7_1554+12delGCCTTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95836136_95836141del"	""	"likely benign"	""
"0000592121"	"0"	"70"	"11"	"95552061"	"95552061"	"subst"	"0"	"00006"	"CEP57_000023"	"g.95552061C>T"	""	"{PMID:Kasak 2009:30075111}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.95818897C>T"	""	"VUS"	""
"0000613783"	"0"	"30"	"11"	"95523887"	"95523887"	"subst"	"0.000156179"	"01943"	"CEP57_000024"	"g.95523887G>A"	""	""	""	"CEP57(NM_014679.3):c.25G>A (p.A9T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95790723G>A"	""	"likely benign"	""
"0000613784"	"0"	"50"	"11"	"95532445"	"95532445"	"subst"	"0.000256158"	"01943"	"CEP57_000025"	"g.95532445C>T"	""	""	""	"CEP57(NM_014679.3):c.95C>T (p.S32F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95799281C>T"	""	"VUS"	""
"0000648420"	"1"	"50"	"11"	"95532439"	"95532439"	"subst"	"2.44004E-5"	"03575"	"CEP57_000026"	"g.95532439G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs577173144}"	"Germline"	""	"rs577173144"	"0"	""	""	"g.95799275G>A"	""	"VUS"	""
"0000656960"	"0"	"50"	"11"	"95528706"	"95528706"	"subst"	"0"	"02325"	"CEP57_000027"	"g.95528706A>G"	""	""	""	"CEP57(NM_001243776.2):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95795542A>G"	""	"VUS"	""
"0000656961"	"0"	"50"	"11"	"95552046"	"95552046"	"subst"	"0.000403026"	"01943"	"CEP57_000028"	"g.95552046G>A"	""	""	""	"CEP57(NM_014679.3):c.677G>A (p.R226H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.95818882G>A"	""	"VUS"	""
"0000805481"	"0"	"30"	"11"	"95568531"	"95568531"	"subst"	"0.00284512"	"02326"	"CEP57_000019"	"g.95568531A>G"	""	""	""	"MTMR2(NM_001243571.2):c.1639T>C (p.S547P), MTMR2(NM_016156.5):c.1855T>C (p.S619P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000832117"	"3"	"70"	"11"	"95561037"	"95561037"	"subst"	"0"	"00663"	"CEP57_000029"	"g.95561037C>T"	""	""	""	""	""	"Germline"	"yes"	"rs745587374"	"0"	""	""	"g.95827873C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000853219"	"0"	"70"	"11"	"95555690"	"95555690"	"subst"	"0"	"01943"	"CEP57_000032"	"g.95555690C>T"	""	""	""	"CEP57(NM_001363604.1):c.754C>T (p.Q252*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000862753"	"0"	"50"	"11"	"95551045"	"95551045"	"subst"	"4.06161E-6"	"01943"	"CEP57_000030"	"g.95551045C>G"	""	""	""	"CEP57(NM_014679.3):c.599C>G (p.T200S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862754"	"0"	"30"	"11"	"95555665"	"95555665"	"subst"	"4.0705E-6"	"01804"	"CEP57_000031"	"g.95555665A>G"	""	""	""	"CEP57(NM_001243776.1):c.783A>G (p.(Lys261=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000874680"	"3"	"70"	"11"	"95561146"	"95561146"	"subst"	"0"	"00000"	"CEP57_000033"	"g.95561146C>A"	"frequency in 1500 in-house samples: 0"	"{PMID:Alfares 2018:30202406}"	""	"CEP57, NM_014679.4, c.1082C>A,p.Ser361*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.95827982C>A"	""	"likely pathogenic"	"ACMG"
"0000913724"	"0"	"50"	"11"	"95546137"	"95546137"	"subst"	"2.84458E-5"	"01804"	"CEP57_000034"	"g.95546137C>T"	""	""	""	"CEP57(NM_001243776.1):c.217C>T (p.(Arg73Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038858"	"0"	"50"	"11"	"95527680"	"95527680"	"subst"	"0"	"01804"	"CEP57_000035"	"g.95527680G>A"	""	""	""	"CEP57(NM_001363604.2):c.-54G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038859"	"0"	"50"	"11"	"95546722"	"95546722"	"subst"	"1.63127E-5"	"01804"	"CEP57_000036"	"g.95546722A>G"	""	""	""	"CEP57(NM_014679.5):c.473A>G (p.(Glu158Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038860"	"0"	"50"	"11"	"95561013"	"95561013"	"subst"	"0.000150289"	"01804"	"CEP57_000037"	"g.95561013C>T"	""	""	""	"CEP57(NM_014679.5):c.949C>T (p.(His317Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054043"	"0"	"30"	"11"	"95527379"	"95527380"	"dup"	"0"	"01804"	"CEP57_000038"	"g.95527379_95527380dup"	""	""	""	"CEP57(NM_001363604.2):c.-349-6_-349-5dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 CEP57
## Count = 47
"{{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}}"
"0000172839"	"00004981"	"70"	"241"	"0"	"241"	"0"	"c.241C>T"	"r.(?)"	"p.(Arg81*)"	"3"
"0000172841"	"00004981"	"70"	"520"	"0"	"521"	"0"	"c.520_521del"	"r.(?)"	"p.(Glu174Thrfs*4)"	"5"
"0000172842"	"00004981"	"70"	"520"	"0"	"521"	"0"	"c.520_521del"	"r.(?)"	"p.(Glu174Thrfs*4)"	"5"
"0000172843"	"00004981"	"70"	"915"	"0"	"925"	"0"	"c.915_925dup"	"r.(?)"	"p.(Leu309Profs*9)"	"9"
"0000172844"	"00004981"	"70"	"915"	"0"	"925"	"0"	"c.915_925dup"	"r.(?)"	"p.(Leu309Profs*9)"	"9"
"0000172845"	"00004981"	"70"	"915"	"0"	"925"	"0"	"c.915_925dup"	"r.(?)"	"p.(Leu309Profs*9)"	"9"
"0000254766"	"00004981"	"30"	"422"	"0"	"422"	"0"	"c.422A>G"	"r.(?)"	"p.(Asn141Ser)"	""
"0000280052"	"00004981"	"10"	"6531"	"0"	"6531"	"0"	"c.*5028T>C"	"r.(=)"	"p.(=)"	""
"0000280053"	"00004981"	"90"	"6416"	"0"	"6416"	"0"	"c.*4913C>T"	"r.(=)"	"p.(=)"	""
"0000280054"	"00004981"	"10"	"6409"	"0"	"6409"	"0"	"c.*4906G>T"	"r.(=)"	"p.(=)"	""
"0000280055"	"00004981"	"90"	"5664"	"0"	"5664"	"0"	"c.*4161G>C"	"r.(=)"	"p.(=)"	""
"0000280056"	"00004981"	"50"	"5607"	"0"	"5607"	"0"	"c.*4104C>T"	"r.(=)"	"p.(=)"	""
"0000322456"	"00004981"	"30"	"-4483"	"0"	"-4483"	"0"	"c.-4483C>T"	"r.(?)"	"p.(=)"	""
"0000322457"	"00004981"	"30"	"333"	"0"	"333"	"0"	"c.333G>C"	"r.(?)"	"p.(Gln111His)"	""
"0000546120"	"00004981"	"30"	"46"	"-3721"	"46"	"-3721"	"c.46-3721C>T"	"r.(=)"	"p.(=)"	""
"0000546121"	"00004981"	"30"	"46"	"-3718"	"46"	"-3718"	"c.46-3718A>T"	"r.(=)"	"p.(=)"	""
"0000546122"	"00004981"	"30"	"46"	"-3718"	"46"	"-3717"	"c.46-3718_46-3717del"	"r.(=)"	"p.(=)"	""
"0000546123"	"00004981"	"30"	"46"	"-3717"	"46"	"-3717"	"c.46-3717G>T"	"r.(=)"	"p.(=)"	""
"0000546124"	"00004981"	"50"	"226"	"0"	"226"	"0"	"c.226C>G"	"r.(?)"	"p.(Leu76Val)"	""
"0000546125"	"00004981"	"30"	"422"	"0"	"422"	"0"	"c.422A>G"	"r.(?)"	"p.(Asn141Ser)"	""
"0000546126"	"00004981"	"30"	"490"	"0"	"490"	"0"	"c.490G>A"	"r.(?)"	"p.(Val164Ile)"	""
"0000546127"	"00004981"	"30"	"501"	"0"	"501"	"0"	"c.501A>G"	"r.(?)"	"p.(Lys167=)"	""
"0000546128"	"00004981"	"30"	"807"	"3"	"807"	"3"	"c.807+3G>A"	"r.spl?"	"p.?"	""
"0000546130"	"00004981"	"10"	"1342"	"0"	"1342"	"0"	"c.1342A>G"	"r.(?)"	"p.(Arg448Gly)"	""
"0000546131"	"00004981"	"50"	"1368"	"0"	"1368"	"0"	"c.1368del"	"r.(?)"	"p.(Thr457GlnfsTer10)"	""
"0000546132"	"00004981"	"30"	"5572"	"0"	"5572"	"0"	"c.*4069C>T"	"r.(=)"	"p.(=)"	""
"0000546134"	"00004981"	"30"	"5614"	"0"	"5614"	"0"	"c.*4111A>G"	"r.(=)"	"p.(=)"	""
"0000546135"	"00004981"	"50"	"5618"	"0"	"5618"	"0"	"c.*4115C>G"	"r.(=)"	"p.(=)"	""
"0000546136"	"00004981"	"30"	"6376"	"0"	"6381"	"0"	"c.*4873_*4878del"	"r.(=)"	"p.(=)"	""
"0000546137"	"00004981"	"30"	"6383"	"0"	"6388"	"0"	"c.*4880_*4885del"	"r.(=)"	"p.(=)"	""
"0000592121"	"00004981"	"70"	"692"	"0"	"692"	"0"	"c.692C>T"	"r.(?)"	"p.(Ala231Val)"	""
"0000613783"	"00004981"	"30"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Ala9Thr)"	""
"0000613784"	"00004981"	"50"	"95"	"0"	"95"	"0"	"c.95C>T"	"r.(?)"	"p.(Ser32Phe)"	""
"0000648420"	"00004981"	"50"	"89"	"0"	"89"	"0"	"c.89G>A"	"r.(?)"	"p.(Arg30Gln)"	""
"0000656960"	"00004981"	"50"	"46"	"-3690"	"46"	"-3690"	"c.46-3690A>G"	"r.(=)"	"p.(=)"	""
"0000656961"	"00004981"	"50"	"677"	"0"	"677"	"0"	"c.677G>A"	"r.(?)"	"p.(Arg226His)"	""
"0000805481"	"00004981"	"30"	"5614"	"0"	"5614"	"0"	"c.*4111A>G"	"r.(=)"	"p.(=)"	""
"0000832117"	"00004981"	"90"	"973"	"0"	"973"	"0"	"c.973C>T"	"r.(?)"	"p.(Arg325*)"	""
"0000853219"	"00004981"	"70"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Gln279*)"	""
"0000862753"	"00004981"	"50"	"599"	"0"	"599"	"0"	"c.599C>G"	"r.(?)"	"p.(Thr200Ser)"	""
"0000862754"	"00004981"	"30"	"810"	"0"	"810"	"0"	"c.810A>G"	"r.(?)"	"p.(Lys270=)"	""
"0000874680"	"00004981"	"70"	"1082"	"0"	"1082"	"0"	"c.1082C>A"	"r.(?)"	"p.(Ser361*)"	""
"0000913724"	"00004981"	"50"	"244"	"0"	"244"	"0"	"c.244C>T"	"r.(?)"	"p.(Arg82Cys)"	""
"0001038858"	"00004981"	"50"	"45"	"3773"	"45"	"3773"	"c.45+3773G>A"	"r.(=)"	"p.(=)"	""
"0001038859"	"00004981"	"50"	"473"	"0"	"473"	"0"	"c.473A>G"	"r.(?)"	"p.(Glu158Gly)"	""
"0001038860"	"00004981"	"50"	"949"	"0"	"949"	"0"	"c.949C>T"	"r.(?)"	"p.(His317Tyr)"	""
"0001054043"	"00004981"	"30"	"45"	"3472"	"45"	"3473"	"c.45+3472_45+3473dup"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000107097"	"0000172839"
"0000107098"	"0000172841"
"0000107098"	"0000172843"
"0000107099"	"0000172842"
"0000107099"	"0000172844"
"0000107100"	"0000172845"
"0000261984"	"0000592121"
"0000291731"	"0000648420"
"0000399562"	"0000832117"
"0000416552"	"0000874680"