### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SETD5)
# 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}}"
"SETD5"	"SET domain containing 5"	"3"	"p25.3"	"unknown"	"NC_000003.11"	"UD_136021333932"	""	"http://www.LOVD.nl/SETD5"	""	"1"	"25566"	"55209"	"615743"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/SETD5_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-03-14 22:31:30"	"00006"	"2025-08-26 16:11:12"


## 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}}"
"00018751"	"SETD5"	"SET domain containing 5"	"001"	"NM_001080517.1"	""	"NP_001073986.1"	""	""	""	"-435"	"6392"	"4329"	"9439403"	"9519838"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04076"	"MRD23"	"mental retardation, autosomal dominant, type 23 (MRD-23)"	"AD"	"615761"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SETD5"	"04076"


## Individuals ## Do not remove or alter this header ##
## Count = 33
"{{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}}"
"00016308"	""	""	""	"1"	""	"00675"	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"patient 1"
"00016309"	""	""	""	"1"	""	"00675"	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"patient 2"
"00111398"	""	""	""	"1"	""	"00729"	"{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}"	""	"M"	"no"	""	""	"0"	""	""	""	"S_098"
"00144519"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00151387"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00164712"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00174383"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00229567"	""	""	""	"1"	""	"00006"	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	"M"	""	""	""	"0"	""	""	"white"	"patient 3"
"00229568"	""	""	""	"1"	""	"00006"	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	"M"	""	""	""	"0"	""	""	"white"	"patient 4"
"00229569"	""	""	""	"1"	""	"00006"	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	"F"	""	"Iran"	""	"0"	""	""	""	"patient 5"
"00229570"	""	""	""	"1"	""	"00006"	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	"F"	""	""	""	"0"	""	""	"white"	"patient 6"
"00276134"	""	""	""	"1"	""	"01164"	""	"Postaxial hexadactyly of the limbs, mild developmental delay"	"M"	"?"	"Germany"	""	"0"	""	""	""	"160874"
"00307769"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411029"
"00307770"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5410795"
"00307771"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411659"
"00307772"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411248"
"00307773"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411283"
"00307774"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5410802"
"00307775"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"M"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5410830"
"00307968"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:28940097}"	"familial"	"M"	""	""	""	"0"	""	""	""	"17DG0774"
"00307969"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:28940097}"	"simplex case"	"F"	""	""	""	"0"	""	""	""	"17DG0775"
"00315040"	""	""	""	"1"	""	"00006"	"{PMID:Squeo 2020:32170002}"	"analysis 263 cases chromatin-related disorder"	""	""	"Italy"	""	"0"	""	""	""	"GDB1400"
"00377162"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"181846"
"00412361"	""	""	""	"1"	""	"00006"	"{PMID:Halvardson 2016:27334371}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"Fam5"
"00416299"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Russia"	""	"0"	""	""	""	"203952"
"00427976"	""	""	""	"1"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, 1 affected"	""	""	"Australia"	""	"0"	""	""	""	"A025"
"00440371"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2186.1"
"00440390"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2764.1"
"00440392"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2870.1"
"00442607"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"274684"
"00448211"	""	""	""	"1"	""	"00006"	"{PMID:Poli 2024:38177409}"	""	"F"	""	"Chile"	""	"0"	""	""	""	"Pat91"
"00453815"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Ukraine"	""	"0"	""	""	""	"304406"
"00465219"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 33
"{{individualid}}"	"{{diseaseid}}"
"00016308"	"00139"
"00016309"	"00139"
"00111398"	"00139"
"00144519"	"00198"
"00151387"	"00198"
"00164712"	"00198"
"00174383"	"00198"
"00229567"	"00139"
"00229568"	"00139"
"00229569"	"00139"
"00229570"	"00139"
"00276134"	"05162"
"00307769"	"00139"
"00307770"	"00139"
"00307771"	"00139"
"00307772"	"00139"
"00307773"	"00139"
"00307774"	"00139"
"00307775"	"00139"
"00307968"	"00139"
"00307969"	"00139"
"00315040"	"00198"
"00377162"	"04076"
"00412361"	"05611"
"00416299"	"04076"
"00427976"	"00198"
"00440371"	"00198"
"00440390"	"00198"
"00440392"	"00198"
"00442607"	"04076"
"00448211"	"00198"
"00453815"	"04076"
"00465219"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04076, 05162, 05611
## Count = 22
"{{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}}"
"0000014947"	"00139"	"00016308"	"00675"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000014948"	"00139"	"00016309"	"00675"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000087483"	"00139"	"00111398"	"00729"	"Isolated (sporadic)"	""	"mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); no speech delay (-HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000117259"	"00198"	"00144519"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Short stature (HP:0004322); Postaxial hand polydactyly (HP:0001162); Microcephaly (HP:0000252)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000123781"	"00198"	"00151387"	"01807"	"Unknown"	""	"HP:0000717 (Autism)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000129751"	"00198"	"00164712"	"01807"	"Unknown"	""	"HP:0001249 (Intellectual disability)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000139221"	"00198"	"00174383"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Short stature (HP:0004322)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000210724"	"05162"	"00276134"	"01164"	"Unknown"	""	"polydactyly; mild global developmental delay"	""	""	""	""	""	""	""	""	""	""	""	""
"0000233391"	"00139"	"00307968"	"00006"	"Familial, autosomal dominant"	"11y"	"see paper; ..., Intellectual disability, Postaxial hand polydactyly, Microcephaly, Osteopenia, Short palpebral fissure, Aortic dilatation"	""	""	""	""	""	""	""	""	""	""	"intellectual diability"	""
"0000233392"	"00139"	"00307969"	"00006"	"Isolated (sporadic)"	"7y10m"	"see paper; ..., Nystagmus, Intellectual disability, Attention deficit hyperactivity disorder, Thick corpus callosum, Cerebellar atrophy"	""	""	""	""	""	""	""	""	""	""	"intellectual diability"	""
"0000238792"	"00198"	"00315040"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Kabuki syndrome"	"chromatinopathy"	""
"0000272320"	"04076"	"00377162"	"01164"	"Familial, autosomal dominant"	""	"Functional abnormality of the bladder, Nocturia, Abnormal eyebrow morphology, Synophrys, Short attention span, Hyperactivity, Global developmental delay, Neurological speech impairment, Facial hypertrichosis, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperactivity disorder, Neurodevelopmental delay, Stuttering, Seizure precipitated by febrile infection"	""	""	""	""	""	""	""	""	""	"9y"	""	""
"0000304366"	"05611"	"00412361"	"00006"	"Isolated (sporadic)"	""	"mild developmental dealy, myoclonic seizures, fever induced seizures, slightly delayed motor development, delayed speech, flat face, congenital nystagmus, strabismus, hypertelorism, long philtrum, bilateral retention testis, long second toe"	""	""	""	""	""	""	""	""	""	""	"intellectual disability, epilepsy"	""
"0000308066"	"04076"	"00416299"	"01164"	"Unknown"	"02y"	"Hypotonia, Failure to thrive, Delayed gross motor development, Decreased body weight"	""	""	""	""	""	""	""	""	""	""	""	""
"0000318922"	"00198"	"00427976"	"00006"	"Familial, autosomal dominant"	"4y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000330281"	"00198"	"00440371"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant mental retardation-23 (MIM #615761)"	""	""
"0000330300"	"00198"	"00440390"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant mental retardation-23 (MIM #615761)"	""	""
"0000330302"	"00198"	"00440392"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant mental retardation-23 (MIM #615761)"	""	""
"0000331954"	"04076"	"00442607"	"01164"	"Isolated (sporadic)"	"16y"	"Microcephaly, Autism, Intellectual disability, Atrial septal defect, Visual impairment, Hypothyroidism, Disinhibition, Reduced eye contact"	""	""	""	""	""	""	""	""	""	""	""	""
"0000337421"	"00198"	"00448211"	"00006"	"Familial, autosomal recessive"	"3y"	"intellectual disability; hypotonia; cerebral atrophy; feeding difficulties; umbilical hernia; dysmorphic facial features; parental consanguinity"	""	""	""	""	""	""	""	""	""	""	"rare disorder"	""
"0000342470"	"04076"	"00453815"	"01164"	"Unknown"	"04y"	"Absent speech, Neurodevelopmental delay, Motor delay"	""	""	""	""	""	""	""	""	""	""	""	""
"0000350756"	"05611"	"00465219"	"03544"	"Isolated (sporadic)"	""	"HP:0002342, HP:0004322, HP:0007018, HP:0000750, HP:0000271, HP:0000823"	""	""	""	""	""	""	""	""	""	"MRD23"	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 33
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000016228"	"00016308"	"1"	"00675"	"00675"	"2014-03-06 15:43:39"	"00675"	"2014-07-02 16:48:41"	"SEQ-NG-I"	"DNA"	""	""
"0000016229"	"00016309"	"1"	"00675"	"00675"	"2014-03-06 15:54:01"	"00675"	"2014-07-02 16:49:24"	"SEQ-NG-I"	"DNA"	""	""
"0000111863"	"00111398"	"1"	"00729"	"00729"	"2017-08-03 01:04:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000145376"	"00144519"	"0"	"01807"	"01807"	"2017-12-16 16:30:46"	""	""	"SEQ"	"DNA"	""	""
"0000152242"	"00151387"	"0"	"01807"	"01807"	"2018-01-15 20:24:31"	""	""	"SEQ"	"DNA"	""	""
"0000165579"	"00164712"	"1"	"01807"	"01807"	"2018-06-05 19:08:59"	""	""	"SEQ"	"DNA"	""	""
"0000175274"	"00174383"	"1"	"01807"	"01807"	"2018-08-08 12:33:53"	""	""	"SEQ"	"DNA"	""	""
"0000230661"	"00229567"	"1"	"00006"	"00006"	"2019-03-29 20:47:56"	""	""	"arraySNP"	"DNA"	""	""
"0000230662"	"00229568"	"1"	"00006"	"00006"	"2019-03-29 20:53:50"	""	""	"arraySNP"	"DNA"	""	""
"0000230663"	"00229569"	"1"	"00006"	"00006"	"2019-03-29 20:57:51"	""	""	"arraySNP"	"DNA"	""	""
"0000230664"	"00229570"	"1"	"00006"	"00006"	"2019-03-29 21:01:31"	""	""	"arraySNP"	"DNA"	""	""
"0000277281"	"00276134"	"1"	"01164"	"01164"	"2020-01-28 15:25:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000308909"	"00307769"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308910"	"00307770"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308911"	"00307771"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308912"	"00307772"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308913"	"00307773"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308914"	"00307774"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000308915"	"00307775"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000309112"	"00307968"	"1"	"00006"	"00006"	"2020-08-23 13:31:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical WES"
"0000309113"	"00307969"	"1"	"00006"	"00006"	"2020-08-23 13:31:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical WES"
"0000316216"	"00315040"	"1"	"00006"	"00006"	"2020-10-24 17:31:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"68-gene panel"
"0000378367"	"00377162"	"1"	"01164"	"01164"	"2021-07-15 16:42:18"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000413633"	"00412361"	"1"	"00006"	"00006"	"2022-06-27 21:35:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000417579"	"00416299"	"1"	"01164"	"01164"	"2022-08-26 12:58:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000429389"	"00427976"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"whole blood, peripheral blood mononuclear cells"	"singleton WES"
"0000441856"	"00440371"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441875"	"00440390"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441877"	"00440392"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444091"	"00442607"	"1"	"01164"	"01164"	"2023-11-22 12:27:47"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000449786"	"00448211"	"1"	"00006"	"00006"	"2024-02-22 17:47:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455428"	"00453815"	"1"	"01164"	"01164"	"2024-09-12 16:21:38"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000466869"	"00465219"	"1"	"03544"	"03544"	"2025-04-15 10:10:05"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 20
"{{screeningid}}"	"{{geneid}}"
"0000111863"	"SETD5"
"0000230661"	"SETD5"
"0000230662"	"SETD5"
"0000230663"	"SETD5"
"0000230664"	"SETD5"
"0000277281"	"SETD5"
"0000308909"	"SETD5"
"0000308910"	"SETD5"
"0000308911"	"SETD5"
"0000308912"	"SETD5"
"0000308913"	"SETD5"
"0000308914"	"SETD5"
"0000308915"	"SETD5"
"0000309112"	"SETD5"
"0000309113"	"SETD5"
"0000316216"	"SETD5"
"0000378367"	"SETD5"
"0000417579"	"SETD5"
"0000444091"	"SETD5"
"0000455428"	"SETD5"


## 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 = 155
"{{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}}"
"0000035954"	"1"	"90"	"3"	"9477570"	"9477650"	"del"	"0"	"00675"	"SETD5_000001"	"g.9477570_9477650del"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.9435886_9435966del"	""	"pathogenic (dominant)"	""
"0000035955"	"0"	"90"	"3"	"9490270"	"9490270"	"subst"	"0"	"00675"	"SETD5_000002"	"g.9490270C>T"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.9448586C>T"	""	"pathogenic (dominant)"	""
"0000179021"	"0"	"90"	"3"	"9485039"	"9485039"	"dup"	"0"	"00729"	"SETD5_000003"	"g.9485039dup"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.9443355dup"	""	"pathogenic"	"ACMG"
"0000236489"	"0"	"90"	"3"	"9512434"	"9512434"	"del"	"0"	"01807"	"SETD5_000004"	"g.9512434del"	""	""	""	"3016delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9470750del"	""	"pathogenic"	""
"0000245376"	"0"	"70"	"3"	"9517553"	"9517556"	"dup"	"0"	"01807"	"SETD5_000018"	"g.9517553_9517556dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.9475869_9475872dup"	""	"likely pathogenic"	""
"0000298137"	"0"	"70"	"3"	"9483427"	"9483427"	"subst"	"0"	"02325"	"SETD5_000007"	"g.9483427T>A"	""	""	""	"SETD5(NM_001292043.2):c.665+2T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9441743T>A"	""	"likely pathogenic"	""
"0000302053"	"0"	"90"	"3"	"9490315"	"9490315"	"subst"	"0"	"02326"	"SETD5_000011"	"g.9490315G>C"	""	""	""	"SETD5(NM_001292043.2):c.2052+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9448631G>C"	""	"pathogenic"	""
"0000307929"	"0"	"70"	"3"	"9495422"	"9495422"	"subst"	"0"	"01943"	"SETD5_000013"	"g.9495422G>A"	""	""	""	"SETD5(NM_001292043.1):c.2053-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9453738G>A"	""	"likely pathogenic"	""
"0000307930"	"0"	"10"	"3"	"9506176"	"9506176"	"subst"	"0.00256702"	"01943"	"SETD5_000014"	"g.9506176T>G"	""	""	""	"SETD5(NM_001292043.1):c.2250T>G (p.L750=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9464492T>G"	""	"benign"	""
"0000307931"	"0"	"30"	"3"	"9515043"	"9515043"	"subst"	"4.062E-5"	"01943"	"SETD5_000015"	"g.9515043G>A"	""	""	""	"SETD5(NM_001080517.1):c.3319G>A (p.(Val1107Ile)), SETD5(NM_001080517.2):c.3319G>A (p.V1107I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9473359G>A"	""	"likely benign"	""
"0000307932"	"0"	"10"	"3"	"9517369"	"9517369"	"subst"	"0.076123"	"01943"	"SETD5_000016"	"g.9517369C>T"	""	""	""	"SETD5(NM_001080517.2):c.3923C>T (p.T1308I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9475685C>T"	""	"benign"	""
"0000329216"	"0"	"70"	"3"	"9483895"	"9483895"	"subst"	"0"	"01804"	"SETD5_000009"	"g.9483895G>A"	""	""	""	"SETD5(NM_001080517.1):c.1043G>A (p.(Arg348Gln)), SETD5(NM_001349451.2):c.749G>A (p.R250Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9442211G>A"	""	"likely pathogenic"	""
"0000329218"	"0"	"30"	"3"	"9495415"	"9495415"	"subst"	"5.25315E-5"	"01804"	"SETD5_000012"	"g.9495415A>G"	""	""	""	"SETD5(NM_001080517.1):c.2347-8A>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9453731A>G"	""	"likely benign"	""
"0000329219"	"0"	"50"	"3"	"9517473"	"9517473"	"subst"	"0"	"01804"	"SETD5_000017"	"g.9517473A>G"	""	""	""	"SETD5(NM_001080517.1):c.4027A>G (p.(Ser1343Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9475789A>G"	""	"VUS"	""
"0000329220"	"0"	"50"	"3"	"9517762"	"9517762"	"subst"	"0"	"01804"	"SETD5_000019"	"g.9517762C>T"	""	""	""	"SETD5(NM_001080517.1):c.4316C>T (p.(Thr1439Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9476078C>T"	""	"VUS"	""
"0000342699"	"0"	"70"	"3"	"9483895"	"9483895"	"subst"	"0"	"02327"	"SETD5_000009"	"g.9483895G>A"	""	""	""	"SETD5(NM_001080517.1):c.1043G>A (p.(Arg348Gln)), SETD5(NM_001349451.2):c.749G>A (p.R250Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9442211G>A"	""	"likely pathogenic"	""
"0000344725"	"0"	"90"	"3"	"9483280"	"9483280"	"subst"	"0"	"02327"	"SETD5_000021"	"g.9483280C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9441596C>T"	""	"pathogenic"	""
"0000345528"	"0"	"50"	"3"	"9490107"	"9490107"	"subst"	"0"	"02327"	"SETD5_000023"	"g.9490107G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9448423G>T"	""	"VUS"	""
"0000345529"	"0"	"90"	"3"	"9490114"	"9490114"	"subst"	"0"	"02327"	"SETD5_000025"	"g.9490114G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9448430G>T"	""	"pathogenic"	""
"0000347630"	"0"	"90"	"3"	"9490108"	"9490108"	"subst"	"0"	"02327"	"SETD5_000024"	"g.9490108A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9448424A>T"	""	"pathogenic"	""
"0000348668"	"0"	"30"	"3"	"9515179"	"9515179"	"subst"	"0"	"02327"	"SETD5_000030"	"g.9515179C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9473495C>A"	""	"likely benign"	""
"0000348696"	"0"	"90"	"3"	"9517302"	"9517302"	"del"	"4.06167E-6"	"02327"	"SETD5_000031"	"g.9517302del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9475618del"	""	"pathogenic"	""
"0000349171"	"0"	"30"	"3"	"9490304"	"9490304"	"subst"	"0"	"02327"	"SETD5_000026"	"g.9490304C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9448620C>G"	""	"likely benign"	""
"0000349990"	"0"	"70"	"3"	"9482247"	"9482247"	"subst"	"0"	"02327"	"SETD5_000020"	"g.9482247C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9440563C>A"	""	"likely pathogenic"	""
"0000350790"	"0"	"70"	"3"	"9495422"	"9495422"	"subst"	"0"	"02327"	"SETD5_000027"	"g.9495422G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9453738G>T"	""	"likely pathogenic"	""
"0000369304"	"0"	"90"	"3"	"9490184"	"9490185"	"del"	"0"	"01807"	"SETD5_000032"	"g.9490184_9490185del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.9448500_9448501del"	""	"pathogenic"	""
"0000395145"	"0"	"90"	"3"	"9495435"	"9495435"	"subst"	"0"	"01807"	"SETD5_000033"	"g.9495435C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.9453751C>T"	""	"pathogenic"	""
"0000472235"	"1"	"50"	"3"	"9477546"	"9477546"	"subst"	"0"	"00006"	"SETD5_000034"	"g.9477546A>G"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.9435862A>G"	""	"VUS"	""
"0000472236"	"0"	"90"	"3"	"9350000"	"9550000"	"del"	"0"	"00006"	"SETD5_000035"	"g.(9300000_9350000)_(9550000_9600000)del"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	"148kb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000472237"	"0"	"90"	"3"	"9400000"	"9750000"	"del"	"0"	"00006"	"SETD5_000035"	"g.(9350000_9400000)_(9750000_9800000)del"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	"371kb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000472238"	"0"	"90"	"3"	"8800000"	"11300000"	"del"	"0"	"00006"	"SETD5_000035"	"g.(8750000_8800000)_(11300000_11350000)del"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	"2.45Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000472239"	"0"	"90"	"3"	"0"	"0"	""	"0"	"00006"	"SETD5_000035"	"g.(pter_200000)_(11350000_11400000)del"	""	"{PMID:Kuechler 2015:25138099}, {DOI:Kuechler 2015:10.1038/ejhg.2014.165}"	""	""	"11.16Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000520796"	"0"	"50"	"3"	"9483388"	"9483388"	"subst"	"0"	"01943"	"SETD5_000036"	"g.9483388C>T"	""	""	""	"SETD5(NM_001292043.1):c.628C>T (p.R210*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9441704C>T"	""	"VUS"	""
"0000520797"	"0"	"90"	"3"	"9483930"	"9483930"	"del"	"0"	"02327"	"SETD5_000037"	"g.9483930del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9442246del"	""	"pathogenic"	""
"0000520798"	"0"	"30"	"3"	"9486880"	"9486880"	"subst"	"1.22246E-5"	"01804"	"SETD5_000038"	"g.9486880C>T"	""	""	""	"SETD5(NM_001080517.1):c.1336C>T (p.(Arg446Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9445196C>T"	""	"likely benign"	""
"0000520799"	"0"	"70"	"3"	"9486922"	"9486922"	"subst"	"0"	"02327"	"SETD5_000039"	"g.9486922G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9445238G>T"	""	"likely pathogenic"	""
"0000520800"	"0"	"90"	"3"	"9489490"	"9489490"	"subst"	"0"	"01943"	"SETD5_000040"	"g.9489490C>T"	""	""	""	"SETD5(NM_001292043.1):c.1609C>T (p.Q537*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9447806C>T"	""	"pathogenic"	""
"0000520801"	"0"	"50"	"3"	"9490267"	"9490267"	"subst"	"7.41351E-5"	"02325"	"SETD5_000041"	"g.9490267C>T"	""	""	""	"SETD5(NM_001080517.3):c.2299C>T (p.R767C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9448583C>T"	""	"VUS"	""
"0000520802"	"0"	"50"	"3"	"9490271"	"9490271"	"subst"	"2.47653E-5"	"01943"	"SETD5_000042"	"g.9490271G>A"	""	""	""	"SETD5(NM_001292043.1):c.2009G>A (p.R670Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9448587G>A"	""	"VUS"	""
"0000520803"	"0"	"90"	"3"	"9490298"	"9490298"	"dup"	"0"	"02329"	"SETD5_000043"	"g.9490298dup"	""	""	""	"SETD5(NM_001292043.2):c.2036dupT (p.S680Qfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9448614dup"	""	"pathogenic"	""
"0000520804"	"0"	"90"	"3"	"9495416"	"9495416"	"subst"	"0"	"01943"	"SETD5_000044"	"g.9495416A>G"	""	""	""	"SETD5(NM_001080517.1):c.2347-7A>G (p.(=)), SETD5(NM_001292043.1):c.2053-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9453732A>G"	""	"pathogenic"	""
"0000520805"	"0"	"70"	"3"	"9495428"	"9495428"	"subst"	"0"	"02327"	"SETD5_000045"	"g.9495428G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9453744G>T"	""	"likely pathogenic"	""
"0000520806"	"0"	"70"	"3"	"9512341"	"9512341"	"subst"	"0"	"01804"	"SETD5_000046"	"g.9512341C>T"	""	""	""	"SETD5(NM_001080517.1):c.2923C>T (p.(Gln975Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9470657C>T"	""	"likely pathogenic"	""
"0000520807"	"0"	"90"	"3"	"9512488"	"9512488"	"subst"	"0"	"02327"	"SETD5_000047"	"g.9512488G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9470804G>T"	""	"pathogenic"	""
"0000520808"	"0"	"70"	"3"	"9514938"	"9514938"	"subst"	"0"	"01804"	"SETD5_000048"	"g.9514938C>T"	""	""	""	"SETD5(NM_001080517.1):c.3214C>T (p.(Arg1072Ter)), SETD5(NM_001080517.3):c.3214C>T (p.R1072*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9473254C>T"	""	"likely pathogenic"	""
"0000520809"	"0"	"70"	"3"	"9516155"	"9516155"	"subst"	"0"	"02327"	"SETD5_000049"	"g.9516155C>T"	""	""	""	"SETD5(NM_001080517.3):c.3520C>T (p.R1174*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9474471C>T"	""	"likely pathogenic"	""
"0000520810"	"0"	"50"	"3"	"9517390"	"9517390"	"subst"	"8.94127E-5"	"01943"	"SETD5_000050"	"g.9517390C>T"	""	""	""	"SETD5(NM_001080517.2):c.3944C>T (p.T1315M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9475706C>T"	""	"VUS"	""
"0000520811"	"0"	"30"	"3"	"9517405"	"9517405"	"subst"	"4.06722E-6"	"01804"	"SETD5_000051"	"g.9517405A>G"	""	""	""	"SETD5(NM_001080517.1):c.3959A>G (p.(Tyr1320Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9475721A>G"	""	"likely benign"	""
"0000520812"	"0"	"30"	"3"	"9517449"	"9517449"	"subst"	"0"	"01804"	"SETD5_000052"	"g.9517449C>A"	""	""	""	"SETD5(NM_001080517.1):c.4003C>A (p.(Leu1335Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9475765C>A"	""	"likely benign"	""
"0000608899"	"0"	"70"	"3"	"9483882"	"9483882"	"subst"	"0"	"02327"	"SETD5_000053"	"g.9483882G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9442198G>A"	""	"likely pathogenic"	""
"0000608900"	"0"	"30"	"3"	"9488760"	"9488760"	"subst"	"0.000105979"	"01943"	"SETD5_000054"	"g.9488760C>G"	""	""	""	"SETD5(NM_001292043.1):c.1257C>G (p.A419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9447076C>G"	""	"likely benign"	""
"0000608901"	"0"	"90"	"3"	"9495416"	"9495416"	"subst"	"0"	"01804"	"SETD5_000044"	"g.9495416A>G"	""	""	""	"SETD5(NM_001080517.1):c.2347-7A>G (p.(=)), SETD5(NM_001292043.1):c.2053-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9453732A>G"	""	"pathogenic"	""
"0000608902"	"0"	"50"	"3"	"9514944"	"9514944"	"subst"	"0"	"02325"	"SETD5_000055"	"g.9514944C>T"	""	""	""	"SETD5(NM_001080517.3):c.3220C>T (p.R1074W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9473260C>T"	""	"VUS"	""
"0000608903"	"0"	"50"	"3"	"9516161"	"9516161"	"subst"	"0"	"01804"	"SETD5_000056"	"g.9516161C>T"	""	""	""	"SETD5(NM_001080517.1):c.3526C>T (p.(Arg1176Ter)), SETD5(NM_001080517.3):c.3526C>T (p.R1176*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9474477C>T"	""	"VUS"	""
"0000608904"	"0"	"30"	"3"	"9517577"	"9517577"	"subst"	"0.0400827"	"01804"	"SETD5_000057"	"g.9517577C>T"	""	""	""	"SETD5(NM_001080517.1):c.4131C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9475893C>T"	""	"likely benign"	""
"0000608905"	"0"	"50"	"3"	"9517695"	"9517695"	"subst"	"4.06461E-6"	"02325"	"SETD5_000058"	"g.9517695C>T"	""	""	""	"SETD5(NM_001349451.2):c.3955C>T (p.R1319C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9476011C>T"	""	"VUS"	""
"0000632048"	"0"	"70"	"3"	"9483400"	"9483400"	"subst"	"0"	"01164"	"SETD5_000059"	"g.9483400G>T"	""	""	""	"NM_001349451:c.640G>T (Glu214*)"	"ACMG PVS1+PM2"	"Germline"	"?"	""	"0"	""	""	"g.9441716G>T"	""	"likely pathogenic"	"ACMG"
"0000655028"	"0"	"90"	"3"	"9490270"	"9490270"	"subst"	"0"	"02325"	"SETD5_000002"	"g.9490270C>T"	""	""	""	"SETD5(NM_001349451.2):c.2008C>T (p.R670*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9448586C>T"	""	"pathogenic"	""
"0000677105"	"0"	"70"	"3"	"9483426"	"9483426"	"subst"	"0"	"01804"	"SETD5_000060"	"g.9483426G>C"	""	""	""	"SETD5(NM_001080517.1):c.959+1G>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000677106"	"0"	"90"	"3"	"9512152"	"9512152"	"subst"	"0"	"02325"	"SETD5_000061"	"g.9512152C>T"	""	""	""	"SETD5(NM_001349451.2):c.2440C>T (p.R814*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000683343"	"0"	"70"	"3"	"9486739"	"9486739"	"subst"	"0"	"00006"	"SETD5_000063"	"g.9486739A>T"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9445055A>T"	""	"likely pathogenic (dominant)"	""
"0000683344"	"0"	"70"	"3"	"9517302"	"9517302"	"del"	"4.06167E-6"	"00006"	"SETD5_000031"	"g.9517302del"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9475618del"	""	"likely pathogenic (dominant)"	""
"0000683345"	"0"	"70"	"3"	"9486877"	"9486877"	"subst"	"0"	"00006"	"SETD5_000010"	"g.9486877C>T"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9445193C>T"	""	"likely pathogenic (dominant)"	""
"0000683346"	"0"	"70"	"3"	"9517217"	"9517217"	"dup"	"0"	"00006"	"SETD5_000068"	"g.9517217dup"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9475533dup"	""	"likely pathogenic (dominant)"	""
"0000683347"	"0"	"70"	"3"	"9512419"	"9512419"	"subst"	"0"	"00006"	"SETD5_000067"	"g.9512419C>T"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9470735C>T"	""	"likely pathogenic (dominant)"	""
"0000683348"	"0"	"70"	"3"	"9489453"	"9489453"	"subst"	"0"	"00006"	"SETD5_000064"	"g.9489453C>G"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9447769C>G"	""	"likely pathogenic (dominant)"	""
"0000683349"	"0"	"70"	"3"	"9490145"	"9490146"	"del"	"0"	"00006"	"SETD5_000065"	"g.9490145_9490146del"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9448461_9448462del"	""	"likely pathogenic (dominant)"	""
"0000683575"	"0"	"70"	"3"	"9483358"	"9483373"	"del"	"0"	"00006"	"SETD5_000062"	"g.9483358_9483373del"	""	"{PMID:Anazi 2017:28940097}"	""	""	"ACMG PVS1,PM2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9441674_9441689del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000683576"	"0"	"70"	"3"	"9495553"	"9495553"	"subst"	"0"	"00006"	"SETD5_000066"	"g.9495553G>A"	""	"{PMID:Anazi 2017:28940097}"	""	""	"ACMG PVS1,PM6"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9453869G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000689159"	"0"	"50"	"3"	"9490214"	"9490214"	"subst"	"0"	"02325"	"SETD5_000069"	"g.9490214G>T"	""	""	""	"SETD5(NM_001080517.3):c.2246G>T (p.C749F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000689160"	"0"	"30"	"3"	"9517340"	"9517340"	"subst"	"0.000272132"	"01943"	"SETD5_000070"	"g.9517340C>A"	""	""	""	"SETD5(NM_001349451.1):c.3600C>A (p.S1200=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698366"	"0"	"50"	"3"	"9506285"	"9506285"	"subst"	"0.00236351"	"00006"	"SETD5_000071"	"g.9506285T>C"	""	"{PMID:Squeo 2020:32170002}"	""	"3107T>C"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.9464601T>C"	""	"VUS"	"ACMG"
"0000719638"	"0"	"70"	"3"	"9475617"	"9475617"	"subst"	"0"	"02329"	"SETD5_000005"	"g.9475617C>T"	""	""	""	"SETD5(NM_001080517.3):c.160C>T (p.R54*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000719639"	"0"	"50"	"3"	"9483359"	"9483359"	"subst"	"0"	"02327"	"SETD5_000072"	"g.9483359T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719640"	"0"	"70"	"3"	"9483868"	"9483868"	"subst"	"0"	"02329"	"SETD5_000008"	"g.9483868A>G"	""	""	""	"SETD5(NM_001292043.2):c.722A>G (p.D241G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000719641"	"0"	"90"	"3"	"9488798"	"9488798"	"dup"	"0"	"01943"	"SETD5_000073"	"g.9488798dup"	""	""	""	"SETD5(NM_001349451.1):c.1295dupA (p.R433Afs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719642"	"0"	"90"	"3"	"9488924"	"9488924"	"subst"	"0"	"02329"	"SETD5_000074"	"g.9488924C>A"	""	""	""	"SETD5(NM_001349451.2):c.1421C>A (p.S474*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719643"	"0"	"90"	"3"	"9489439"	"9489439"	"subst"	"0"	"01943"	"SETD5_000075"	"g.9489439C>T"	""	""	""	"SETD5(NM_001349451.1):c.1558C>T (p.R520*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719644"	"0"	"90"	"3"	"9512152"	"9512152"	"subst"	"0"	"02327"	"SETD5_000061"	"g.9512152C>T"	""	""	""	"SETD5(NM_001349451.2):c.2440C>T (p.R814*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719645"	"0"	"30"	"3"	"9512153"	"9512153"	"subst"	"2.45561E-5"	"02325"	"SETD5_000076"	"g.9512153G>A"	""	""	""	"SETD5(NM_001080517.3):c.2735G>A (p.R912Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719646"	"0"	"30"	"3"	"9517516"	"9517516"	"subst"	"8.12209E-6"	"01943"	"SETD5_000077"	"g.9517516C>T"	""	""	""	"SETD5(NM_001349451.1):c.3776C>T (p.T1259I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000791122"	"21"	"70"	"3"	"9489590"	"9489590"	"subst"	"0"	"01164"	"SETD5_000078"	"g.9489590C>G"	""	""	""	""	"ACMG: PVS1, PM2-SUP; variant inherited from the affected mother"	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000850435"	"0"	"70"	"3"	"9506108"	"9506109"	"del"	"0"	"01943"	"SETD5_000081"	"g.9506108_9506109del"	""	""	""	"SETD5(NM_001349451.1):c.2183-2_2183-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000859151"	"0"	"90"	"3"	"9482257"	"9482257"	"del"	"0"	"02329"	"SETD5_000079"	"g.9482257del"	""	""	""	"SETD5(NM_001349451.2):c.391delG (p.V131Yfs*22)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859152"	"0"	"70"	"3"	"9489591"	"9489618"	"dup"	"0"	"02327"	"SETD5_000080"	"g.9489591_9489618dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000859153"	"0"	"90"	"3"	"9514938"	"9514938"	"subst"	"0"	"02326"	"SETD5_000048"	"g.9514938C>T"	""	""	""	"SETD5(NM_001080517.1):c.3214C>T (p.(Arg1072Ter)), SETD5(NM_001080517.3):c.3214C>T (p.R1072*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859154"	"0"	"90"	"3"	"9516155"	"9516155"	"subst"	"0"	"02326"	"SETD5_000049"	"g.9516155C>T"	""	""	""	"SETD5(NM_001080517.3):c.3520C>T (p.R1174*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859155"	"0"	"50"	"3"	"9517561"	"9517561"	"subst"	"0.00111685"	"01943"	"SETD5_000082"	"g.9517561C>T"	""	""	""	"SETD5(NM_001349451.1):c.3821C>T (p.T1274I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000871141"	"0"	"90"	"3"	"9490126"	"9490126"	"subst"	"0"	"00006"	"SETD5_000083"	"g.9490126G>T"	""	"{PMID:Halvardson 2016:27334371}"	""	"G2158T (E720X)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	"ACMG"
"0000877297"	"0"	"70"	"3"	"9495459"	"9495459"	"subst"	"0"	"01164"	"SETD5_000084"	"g.9495459C>T"	""	""	""	""	"ACMG: PVS1, PM2_SUP"	"Germline"	"?"	""	""	""	""	"g.9453775C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000886017"	"0"	"70"	"3"	"9483895"	"9483895"	"subst"	"0"	"02329"	"SETD5_000009"	"g.9483895G>A"	""	""	""	"SETD5(NM_001080517.1):c.1043G>A (p.(Arg348Gln)), SETD5(NM_001349451.2):c.749G>A (p.R250Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000886018"	"0"	"50"	"3"	"9483918"	"9483918"	"subst"	"0"	"02326"	"SETD5_000085"	"g.9483918C>T"	""	""	""	"SETD5(NM_001080517.3):c.1066C>T (p.P356S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886019"	"0"	"30"	"3"	"9512345"	"9512345"	"subst"	"0.000877279"	"02325"	"SETD5_000086"	"g.9512345C>G"	""	""	""	"SETD5(NM_001080517.3):c.2927C>G (p.A976G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886020"	"0"	"90"	"3"	"9512401"	"9512401"	"subst"	"0"	"02327"	"SETD5_000087"	"g.9512401C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886021"	"0"	"90"	"3"	"9515106"	"9515106"	"subst"	"0"	"02327"	"SETD5_000088"	"g.9515106A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886022"	"0"	"30"	"3"	"9515182"	"9515182"	"subst"	"0.000138464"	"02325"	"SETD5_000089"	"g.9515182C>T"	""	""	""	"SETD5(NM_001080517.3):c.3458C>T (p.S1153L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000903131"	"0"	"90"	"3"	"9495750"	"9495750"	"subst"	"0"	"03779"	"SETD5_000092"	"g.9495750A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000903137"	"0"	"10"	"3"	"9482109"	"9482140"	"dup"	"0"	"03779"	"SETD5_000090"	"g.9482109_9482140dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000904369"	"0"	"70"	"3"	"9483904"	"9483904"	"subst"	"0"	"03779"	"SETD5_000091"	"g.9483904G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000908862"	"0"	"70"	"3"	"9483807"	"9483807"	"subst"	"0"	"00006"	"SETD5_000093"	"g.9483807C>G"	""	"{PMID:Bournazos 2022:34906502}"	""	""	"transcripts cycloheximide insensitive"	"Germline"	""	""	"0"	""	""	"g.9442123C>G"	""	"pathogenic (dominant)"	""
"0000924011"	"0"	"70"	"3"	"9482336"	"9482336"	"del"	"0"	"02325"	"SETD5_000094"	"g.9482336del"	""	""	""	"SETD5(NM_001080517.3):c.764delA (p.K255Rfs*32)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000924012"	"0"	"30"	"3"	"9482386"	"9482386"	"subst"	"0"	"02325"	"SETD5_000095"	"g.9482386A>G"	""	""	""	"SETD5(NM_001080517.3):c.810+4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924013"	"0"	"90"	"3"	"9516161"	"9516161"	"subst"	"0"	"02326"	"SETD5_000056"	"g.9516161C>T"	""	""	""	"SETD5(NM_001080517.1):c.3526C>T (p.(Arg1176Ter)), SETD5(NM_001080517.3):c.3526C>T (p.R1176*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000928830"	"0"	"90"	"3"	"9488838"	"9488839"	"ins"	"0"	"02325"	"SETD5_000096"	"g.9488838_9488839insACTCT"	""	""	""	"SETD5(NM_001080517.3):c.1629_1630insACTCT (p.E544Tfs*44)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000928831"	"0"	"90"	"3"	"9488842"	"9488845"	"del"	"0"	"02325"	"SETD5_000097"	"g.9488842_9488845del"	""	""	""	"SETD5(NM_001080517.3):c.1633_1636delATTA (p.I545Lfs*40)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000939798"	"0"	"70"	"3"	"9483840"	"9483840"	"subst"	"0"	"00006"	"SETD5_000099"	"g.9483840A>G"	""	"{PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.9442156A>G"	""	"likely pathogenic (dominant)"	""
"0000939817"	"0"	"70"	"3"	"9482242"	"9482242"	"subst"	"0"	"00006"	"SETD5_000098"	"g.9482242C>T"	""	"{PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.9440558C>T"	""	"likely pathogenic (dominant)"	""
"0000939819"	"0"	"70"	"3"	"9488918"	"9488919"	"del"	"0"	"00006"	"SETD5_000100"	"g.9488918_9488919del"	""	"{PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.9447234_9447235del"	""	"likely pathogenic (dominant)"	""
"0000945240"	"0"	"90"	"3"	"9495416"	"9495416"	"subst"	"0"	"03779"	"SETD5_000044"	"g.9495416A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs886041593"	"0"	""	""	""	""	"pathogenic"	""
"0000945934"	"0"	"70"	"3"	"9483824"	"9483824"	"del"	"0"	"01164"	"SETD5_000101"	"g.9483824del"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP, confirmed de novo"	"De novo"	"-"	""	"0"	""	""	"g.9442140del"	""	"pathogenic (dominant)"	"ACMG"
"0000948222"	"0"	"90"	"3"	"9483407"	"9483407"	"subst"	"0"	"02327"	"SETD5_000102"	"g.9483407A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000948223"	"0"	"50"	"3"	"9486905"	"9486905"	"subst"	"0"	"02325"	"SETD5_000103"	"g.9486905A>G"	""	""	""	"SETD5(NM_001080517.3):c.1361A>G (p.Q454R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948224"	"0"	"50"	"3"	"9488916"	"9488916"	"subst"	"0"	"02325"	"SETD5_000104"	"g.9488916C>A"	""	""	""	"SETD5(NM_001080517.3):c.1707C>A (p.N569K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948225"	"0"	"50"	"3"	"9512604"	"9512604"	"subst"	"0"	"02325"	"SETD5_000105"	"g.9512604G>C"	""	""	""	"SETD5(NM_001080517.3):c.3186G>C (p.Q1062H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960269"	"3"	"70"	"3"	"9514918"	"9514918"	"subst"	"0"	"00006"	"SETD5_000106"	"g.9514918A>G"	""	"{PMID:Poli 2024:38177409}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9473234A>G"	""	"likely pathogenic"	""
"0000962933"	"0"	"50"	"3"	"9488744"	"9488744"	"subst"	"4.10587E-6"	"02325"	"SETD5_000107"	"g.9488744A>T"	""	""	""	"SETD5(NM_001080517.3):c.1535A>T (p.D512V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000962934"	"0"	"30"	"3"	"9512555"	"9512555"	"subst"	"1.66924E-5"	"02325"	"SETD5_000108"	"g.9512555G>C"	""	""	""	"SETD5(NM_001080517.3):c.3137G>C (p.G1046A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976007"	"0"	"50"	"3"	"9476019"	"9476019"	"subst"	"8.13048E-6"	"02325"	"SETD5_000109"	"g.9476019C>T"	""	""	""	"SETD5(NM_001080517.3):c.179C>T (p.T60M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976008"	"0"	"70"	"3"	"9482264"	"9482264"	"dup"	"0"	"01804"	"SETD5_000110"	"g.9482264dup"	""	""	""	"SETD5(NM_001080517.3):c.692dup (p.(Asn231LysfsTer4))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976009"	"0"	"50"	"3"	"9486888"	"9486888"	"subst"	"0"	"01804"	"SETD5_000111"	"g.9486888G>C"	""	""	""	"SETD5(NM_001080517.3):c.1344G>C (p.(Glu448Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976010"	"0"	"70"	"3"	"9495492"	"9495492"	"subst"	"0"	"02327"	"SETD5_000112"	"g.9495492C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976011"	"0"	"70"	"3"	"9506301"	"9506301"	"del"	"0"	"02329"	"SETD5_000113"	"g.9506301del"	""	""	""	"SETD5(NM_001349451.2):c.2375delC (p.S792Yfs*31)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976012"	"0"	"50"	"3"	"9515025"	"9515025"	"subst"	"8.12401E-6"	"02325"	"SETD5_000114"	"g.9515025C>G"	""	""	""	"SETD5(NM_001080517.3):c.3301C>G (p.Q1101E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993942"	"0"	"30"	"3"	"9475607"	"9475607"	"subst"	"1.2191E-5"	"01804"	"SETD5_000115"	"g.9475607G>C"	""	""	""	"SETD5(NM_001080517.1):c.150G>C (p.(Arg50Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993943"	"0"	"50"	"3"	"9476085"	"9476085"	"subst"	"8.12565E-6"	"01804"	"SETD5_000116"	"g.9476085C>T"	""	""	""	"SETD5(NM_001080517.1):c.245C>T (p.(Pro82Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993944"	"0"	"30"	"3"	"9477527"	"9477527"	"subst"	"2.22872E-5"	"01804"	"SETD5_000117"	"g.9477527A>C"	""	""	""	"SETD5(NM_001080517.1):c.504A>C (p.(Lys168Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993945"	"0"	"70"	"3"	"9486794"	"9486794"	"dup"	"0"	"01804"	"SETD5_000118"	"g.9486794dup"	""	""	""	"SETD5(NM_001080517.1):c.1250dupA (p.(Asn417fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000993946"	"0"	"30"	"3"	"9486848"	"9486848"	"subst"	"8.12942E-6"	"01804"	"SETD5_000119"	"g.9486848T>C"	""	""	""	"SETD5(NM_001080517.1):c.1304T>C (p.(Ile435Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993947"	"0"	"30"	"3"	"9487373"	"9487375"	"del"	"0"	"01804"	"SETD5_000120"	"g.9487373_9487375del"	""	""	""	"SETD5(NM_001080517.1):c.1473_1475delAGA (p.(Glu492del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993948"	"0"	"50"	"3"	"9488800"	"9488800"	"subst"	"8.1285E-6"	"01804"	"SETD5_000121"	"g.9488800C>T"	""	""	""	"SETD5(NM_001080517.1):c.1591C>T (p.(Arg531Trp)), SETD5(NM_001080517.3):c.1591C>T (p.R531W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993949"	"0"	"30"	"3"	"9489388"	"9489388"	"subst"	"2.44004E-5"	"01804"	"SETD5_000122"	"g.9489388C>G"	""	""	""	"SETD5(NM_001080517.1):c.1801C>G (p.(Leu601Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993950"	"0"	"30"	"3"	"9495513"	"9495513"	"subst"	"4.27325E-6"	"01804"	"SETD5_000123"	"g.9495513G>A"	""	""	""	"SETD5(NM_001080517.1):c.2437G>A (p.(Glu813Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993951"	"0"	"30"	"3"	"9495547"	"9495547"	"subst"	"4.80672E-6"	"01804"	"SETD5_000124"	"g.9495547A>G"	""	""	""	"SETD5(NM_001080517.1):c.2471A>G (p.(Asn824Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993952"	"0"	"30"	"3"	"9512237"	"9512237"	"subst"	"4.06157E-6"	"01804"	"SETD5_000125"	"g.9512237G>A"	""	""	""	"SETD5(NM_001080517.1):c.2819G>A (p.(Gly940Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993953"	"0"	"30"	"3"	"9512526"	"9512526"	"subst"	"0"	"01804"	"SETD5_000126"	"g.9512526C>A"	""	""	""	"SETD5(NM_001080517.1):c.3108C>A (p.(Asp1036Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993954"	"0"	"50"	"3"	"9512528"	"9512528"	"subst"	"0"	"01804"	"SETD5_000127"	"g.9512528T>C"	""	""	""	"SETD5(NM_001080517.1):c.3110T>C (p.(Leu1037Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993955"	"0"	"30"	"3"	"9515043"	"9515043"	"subst"	"4.062E-5"	"01804"	"SETD5_000015"	"g.9515043G>A"	""	""	""	"SETD5(NM_001080517.1):c.3319G>A (p.(Val1107Ile)), SETD5(NM_001080517.2):c.3319G>A (p.V1107I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993956"	"0"	"30"	"3"	"9517217"	"9517217"	"subst"	"1.22003E-5"	"01804"	"SETD5_000128"	"g.9517217G>C"	""	""	""	"SETD5(NM_001080517.1):c.3771G>C (p.(Gln1257His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993957"	"0"	"30"	"3"	"9517459"	"9517459"	"subst"	"2.84472E-5"	"01804"	"SETD5_000129"	"g.9517459G>A"	""	""	""	"SETD5(NM_001080517.1):c.4013G>A (p.(Arg1338Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001007052"	"0"	"90"	"3"	"9486877"	"9486877"	"subst"	"0"	"03779"	"SETD5_000010"	"g.9486877C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs886039432"	"0"	""	""	""	""	"pathogenic"	""
"0001007611"	"0"	"70"	"3"	"9512584"	"9512584"	"del"	"0"	"01164"	"SETD5_000130"	"g.9512584del"	""	""	""	""	"ACMG: PVS1, PM2_SUP"	"Germline"	"-"	""	"0"	""	""	"g.9470900del"	""	"likely pathogenic (dominant)"	"ACMG"
"0001013918"	"0"	"50"	"3"	"9495540"	"9495540"	"subst"	"0"	"02325"	"SETD5_000131"	"g.9495540A>G"	""	""	""	"SETD5(NM_001080517.3):c.2464A>G (p.K822E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001024867"	"0"	"70"	"3"	"9490315"	"9490315"	"subst"	"0"	"01943"	"SETD5_000132"	"g.9490315G>A"	""	""	""	"SETD5(NM_001080517.2):c.2346+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001030852"	"0"	"70"	"3"	"9490199"	"9490199"	"subst"	"0"	"03544"	"SETD5_000133"	"g.9490199A>G"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.9448515A>G"	"{CV:3780970}"	"likely pathogenic"	"ACMG"
"0001034196"	"0"	"30"	"3"	"9460838"	"9460838"	"subst"	"0"	"01804"	"SETD5_000134"	"g.9460838T>C"	""	""	""	"SETD5(NM_001080517.3):c.-176-5313T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034197"	"0"	"30"	"3"	"9483352"	"9483352"	"subst"	"4.06246E-6"	"01804"	"SETD5_000135"	"g.9483352A>G"	""	""	""	"SETD5(NM_001080517.3):c.886A>G (p.(Thr296Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034198"	"0"	"50"	"3"	"9486757"	"9486757"	"subst"	"8.14598E-6"	"01804"	"SETD5_000136"	"g.9486757C>T"	""	""	""	"SETD5(NM_001080517.3):c.1213C>T (p.(His405Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034199"	"0"	"50"	"3"	"9488800"	"9488800"	"subst"	"8.1285E-6"	"02325"	"SETD5_000121"	"g.9488800C>T"	""	""	""	"SETD5(NM_001080517.1):c.1591C>T (p.(Arg531Trp)), SETD5(NM_001080517.3):c.1591C>T (p.R531W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034200"	"0"	"50"	"3"	"9488981"	"9488981"	"subst"	"0"	"01804"	"SETD5_000137"	"g.9488981C>T"	""	""	""	"SETD5(NM_001080517.3):c.1772C>T (p.(Ser591Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034201"	"0"	"50"	"3"	"9490265"	"9490265"	"subst"	"0"	"02325"	"SETD5_000138"	"g.9490265G>C"	""	""	""	"SETD5(NM_001080517.3):c.2297G>C (p.R766T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034202"	"0"	"30"	"3"	"9506277"	"9506277"	"subst"	"0.000223356"	"01804"	"SETD5_000139"	"g.9506277G>A"	""	""	""	"SETD5(NM_001080517.3):c.2645G>A (p.(Arg882Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034203"	"0"	"50"	"3"	"9512363"	"9512363"	"subst"	"0"	"01804"	"SETD5_000140"	"g.9512363A>G"	""	""	""	"SETD5(NM_001080517.3):c.2945A>G (p.(Asn982Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034204"	"0"	"30"	"3"	"9516200"	"9516200"	"subst"	"4.06256E-6"	"01804"	"SETD5_000141"	"g.9516200G>A"	""	""	""	"SETD5(NM_001080517.3):c.3565G>A (p.(Val1189Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034205"	"0"	"30"	"3"	"9517275"	"9517275"	"subst"	"0.000170605"	"01804"	"SETD5_000142"	"g.9517275A>G"	""	""	""	"SETD5(NM_001080517.3):c.3829A>G (p.(Thr1277Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001045940"	"0"	"50"	"3"	"9475551"	"9475551"	"subst"	"1.62583E-5"	"02325"	"SETD5_000143"	"g.9475551C>G"	""	""	""	"SETD5(NM_001080517.3):c.94C>G (p.P32A)"	"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 SETD5
## Count = 155
"{{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}}"
"0000035954"	"00018751"	"90"	"547"	"0"	"567"	"60"	"c.547_567+60del"	"r.spl"	"p.?"	"7_7i"
"0000035955"	"00018751"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768*)"	"16"
"0000179021"	"00018751"	"90"	"1125"	"0"	"1125"	"0"	"c.1125dup"	"r.(?)"	"p.(Val376Cysfs*9)"	""
"0000236489"	"00018751"	"90"	"3016"	"0"	"3016"	"0"	"c.3016del"	"r.(?)"	"p.(Val1006Trpfs*28)"	""
"0000245376"	"00018751"	"70"	"4107"	"0"	"4110"	"0"	"c.4107_4110dup"	"r.(?)"	"p.Ser1371Glufs*10"	""
"0000298137"	"00018751"	"70"	"959"	"2"	"959"	"2"	"c.959+2T>A"	"r.spl?"	"p.?"	""
"0000302053"	"00018751"	"90"	"2346"	"1"	"2346"	"1"	"c.2346+1G>C"	"r.spl?"	"p.?"	""
"0000307929"	"00018751"	"70"	"2347"	"-1"	"2347"	"-1"	"c.2347-1G>A"	"r.spl?"	"p.?"	""
"0000307930"	"00018751"	"10"	"2544"	"0"	"2544"	"0"	"c.2544T>G"	"r.(?)"	"p.(Leu848=)"	""
"0000307931"	"00018751"	"30"	"3319"	"0"	"3319"	"0"	"c.3319G>A"	"r.(?)"	"p.(Val1107Ile)"	""
"0000307932"	"00018751"	"10"	"3923"	"0"	"3923"	"0"	"c.3923C>T"	"r.(?)"	"p.(Thr1308Ile)"	""
"0000329216"	"00018751"	"70"	"1043"	"0"	"1043"	"0"	"c.1043G>A"	"r.(?)"	"p.(Arg348Gln)"	""
"0000329218"	"00018751"	"30"	"2347"	"-8"	"2347"	"-8"	"c.2347-8A>G"	"r.(=)"	"p.(=)"	""
"0000329219"	"00018751"	"50"	"4027"	"0"	"4027"	"0"	"c.4027A>G"	"r.(?)"	"p.(Ser1343Gly)"	""
"0000329220"	"00018751"	"50"	"4316"	"0"	"4316"	"0"	"c.4316C>T"	"r.(?)"	"p.(Thr1439Met)"	""
"0000342699"	"00018751"	"70"	"1043"	"0"	"1043"	"0"	"c.1043G>A"	"r.(?)"	"p.(Arg348Gln)"	""
"0000344725"	"00018751"	"90"	"814"	"0"	"814"	"0"	"c.814C>T"	"r.(?)"	"p.(Gln272Ter)"	""
"0000345528"	"00018751"	"50"	"2139"	"0"	"2139"	"0"	"c.2139G>T"	"r.(?)"	"p.(Glu713Asp)"	""
"0000345529"	"00018751"	"90"	"2146"	"0"	"2146"	"0"	"c.2146G>T"	"r.(?)"	"p.(Glu716Ter)"	""
"0000347630"	"00018751"	"90"	"2140"	"0"	"2140"	"0"	"c.2140A>T"	"r.(?)"	"p.(Lys714Ter)"	""
"0000348668"	"00018751"	"30"	"3455"	"0"	"3455"	"0"	"c.3455C>A"	"r.(?)"	"p.(Ser1152Tyr)"	""
"0000348696"	"00018751"	"90"	"3856"	"0"	"3856"	"0"	"c.3856del"	"r.(?)"	"p.(Ser1286LeufsTer84)"	""
"0000349171"	"00018751"	"30"	"2336"	"0"	"2336"	"0"	"c.2336C>G"	"r.(?)"	"p.(Ser779Cys)"	""
"0000349990"	"00018751"	"70"	"675"	"0"	"675"	"0"	"c.675C>A"	"r.(?)"	"p.(Tyr225Ter)"	""
"0000350790"	"00018751"	"70"	"2347"	"-1"	"2347"	"-1"	"c.2347-1G>T"	"r.spl?"	"p.?"	""
"0000369304"	"00018751"	"90"	"2216"	"0"	"2217"	"0"	"c.2216_2217del"	"r.(?)"	"p.(Leu739Serfs*26)"	""
"0000395145"	"00018751"	"90"	"2359"	"0"	"2359"	"0"	"c.2359C>T"	"r.(?)"	"p.(Gln787*)"	""
"0000472235"	"00018751"	"50"	"523"	"0"	"523"	"0"	"c.523A>G"	"r.(?)"	"p.(Ser175Gly)"	""
"0000472236"	"00018751"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000472237"	"00018751"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000472238"	"00018751"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000472239"	"00018751"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000520796"	"00018751"	"50"	"922"	"0"	"922"	"0"	"c.922C>T"	"r.(?)"	"p.(Arg308Ter)"	""
"0000520797"	"00018751"	"90"	"1077"	"1"	"1077"	"1"	"c.1077+1del"	"r.spl?"	"p.?"	""
"0000520798"	"00018751"	"30"	"1336"	"0"	"1336"	"0"	"c.1336C>T"	"r.(?)"	"p.(Arg446Trp)"	""
"0000520799"	"00018751"	"70"	"1378"	"0"	"1378"	"0"	"c.1378G>T"	"r.(?)"	"p.(Glu460Ter)"	""
"0000520800"	"00018751"	"90"	"1903"	"0"	"1903"	"0"	"c.1903C>T"	"r.(?)"	"p.(Gln635Ter)"	""
"0000520801"	"00018751"	"50"	"2299"	"0"	"2299"	"0"	"c.2299C>T"	"r.(?)"	"p.(Arg767Cys)"	""
"0000520802"	"00018751"	"50"	"2303"	"0"	"2303"	"0"	"c.2303G>A"	"r.(?)"	"p.(Arg768Gln)"	""
"0000520803"	"00018751"	"90"	"2330"	"0"	"2330"	"0"	"c.2330dup"	"r.(?)"	"p.(Ser778GlnfsTer4)"	""
"0000520804"	"00018751"	"90"	"2347"	"-7"	"2347"	"-7"	"c.2347-7A>G"	"r.(=)"	"p.(=)"	""
"0000520805"	"00018751"	"70"	"2352"	"0"	"2352"	"0"	"c.2352G>T"	"r.(?)"	"p.(Trp784Cys)"	""
"0000520806"	"00018751"	"70"	"2923"	"0"	"2923"	"0"	"c.2923C>T"	"r.(?)"	"p.(Gln975Ter)"	""
"0000520807"	"00018751"	"90"	"3070"	"0"	"3070"	"0"	"c.3070G>T"	"r.(?)"	"p.(Gly1024Ter)"	""
"0000520808"	"00018751"	"70"	"3214"	"0"	"3214"	"0"	"c.3214C>T"	"r.(?)"	"p.(Arg1072Ter)"	""
"0000520809"	"00018751"	"70"	"3520"	"0"	"3520"	"0"	"c.3520C>T"	"r.(?)"	"p.(Arg1174Ter)"	""
"0000520810"	"00018751"	"50"	"3944"	"0"	"3944"	"0"	"c.3944C>T"	"r.(?)"	"p.(Thr1315Met)"	""
"0000520811"	"00018751"	"30"	"3959"	"0"	"3959"	"0"	"c.3959A>G"	"r.(?)"	"p.(Tyr1320Cys)"	""
"0000520812"	"00018751"	"30"	"4003"	"0"	"4003"	"0"	"c.4003C>A"	"r.(?)"	"p.(Leu1335Ile)"	""
"0000608899"	"00018751"	"70"	"1030"	"0"	"1030"	"0"	"c.1030G>A"	"r.(?)"	"p.(Gly344Ser)"	""
"0000608900"	"00018751"	"30"	"1551"	"0"	"1551"	"0"	"c.1551C>G"	"r.(?)"	"p.(Ala517=)"	""
"0000608901"	"00018751"	"90"	"2347"	"-7"	"2347"	"-7"	"c.2347-7A>G"	"r.(=)"	"p.(=)"	""
"0000608902"	"00018751"	"50"	"3220"	"0"	"3220"	"0"	"c.3220C>T"	"r.(?)"	"p.(Arg1074Trp)"	""
"0000608903"	"00018751"	"50"	"3526"	"0"	"3526"	"0"	"c.3526C>T"	"r.(?)"	"p.(Arg1176Ter)"	""
"0000608904"	"00018751"	"30"	"4131"	"0"	"4131"	"0"	"c.4131C>T"	"r.(?)"	"p.(Asn1377=)"	""
"0000608905"	"00018751"	"50"	"4249"	"0"	"4249"	"0"	"c.4249C>T"	"r.(?)"	"p.(Arg1417Cys)"	""
"0000632048"	"00018751"	"70"	"934"	"0"	"934"	"0"	"c.934G>T"	"r.(?)"	"p.(Glu312*)"	""
"0000655028"	"00018751"	"90"	"2302"	"0"	"2302"	"0"	"c.2302C>T"	"r.(?)"	"p.(Arg768Ter)"	""
"0000677105"	"00018751"	"70"	"959"	"1"	"959"	"1"	"c.959+1G>C"	"r.spl?"	"p.?"	""
"0000677106"	"00018751"	"90"	"2734"	"0"	"2734"	"0"	"c.2734C>T"	"r.(?)"	"p.(Arg912Ter)"	""
"0000683343"	"00018751"	"70"	"1195"	"0"	"1195"	"0"	"c.1195A>T"	"r.(?)"	"p.(Lys399*)"	""
"0000683344"	"00018751"	"70"	"3856"	"0"	"3856"	"0"	"c.3856del"	"r.(?)"	"p.(Ser1286Leufs*84)"	""
"0000683345"	"00018751"	"70"	"1333"	"0"	"1333"	"0"	"c.1333C>T"	"r.(?)"	"p.(Arg445*)"	""
"0000683346"	"00018751"	"70"	"3771"	"0"	"3771"	"0"	"c.3771dup"	"r.(?)"	"p.(Ser1258Glufs*65)"	""
"0000683347"	"00018751"	"70"	"3001"	"0"	"3001"	"0"	"c.3001C>T"	"r.(?)"	"p.(Arg1001*)"	""
"0000683348"	"00018751"	"70"	"1866"	"0"	"1866"	"0"	"c.1866C>G"	"r.(?)"	"p.(Tyr622*)"	""
"0000683349"	"00018751"	"70"	"2177"	"0"	"2178"	"0"	"c.2177_2178del"	"r.(?)"	"p.(Thr726Asnfs*39)"	""
"0000683575"	"00018751"	"70"	"892"	"0"	"907"	"0"	"c.892_907del"	"r.(?)"	"p.(Ile298Glyfs*32)"	""
"0000683576"	"00018751"	"70"	"2476"	"1"	"2476"	"1"	"c.2476+1G>A"	"r.spl"	"p.?"	""
"0000689159"	"00018751"	"50"	"2246"	"0"	"2246"	"0"	"c.2246G>T"	"r.(?)"	"p.(Cys749Phe)"	""
"0000689160"	"00018751"	"30"	"3894"	"0"	"3894"	"0"	"c.3894C>A"	"r.(?)"	"p.(Ser1298=)"	""
"0000698366"	"00018751"	"50"	"2653"	"0"	"2653"	"0"	"c.2653T>C"	"r.(?)"	"p.(Tyr885His)"	"18"
"0000719638"	"00018751"	"70"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54Ter)"	""
"0000719639"	"00018751"	"50"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Ile298Thr)"	""
"0000719640"	"00018751"	"70"	"1016"	"0"	"1016"	"0"	"c.1016A>G"	"r.(?)"	"p.(Asp339Gly)"	""
"0000719641"	"00018751"	"90"	"1589"	"0"	"1589"	"0"	"c.1589dup"	"r.(?)"	"p.(Arg531Alafs*12)"	""
"0000719642"	"00018751"	"90"	"1715"	"0"	"1715"	"0"	"c.1715C>A"	"r.(?)"	"p.(Ser572*)"	""
"0000719643"	"00018751"	"90"	"1852"	"0"	"1852"	"0"	"c.1852C>T"	"r.(?)"	"p.(Arg618*)"	""
"0000719644"	"00018751"	"90"	"2734"	"0"	"2734"	"0"	"c.2734C>T"	"r.(?)"	"p.(Arg912Ter)"	""
"0000719645"	"00018751"	"30"	"2735"	"0"	"2735"	"0"	"c.2735G>A"	"r.(?)"	"p.(Arg912Gln)"	""
"0000719646"	"00018751"	"30"	"4070"	"0"	"4070"	"0"	"c.4070C>T"	"r.(?)"	"p.(Thr1357Ile)"	""
"0000791122"	"00018751"	"70"	"2003"	"0"	"2003"	"0"	"c.2003C>G"	"r.(?)"	"p.(Ser668*)"	""
"0000850435"	"00018751"	"70"	"2477"	"-1"	"2477"	"0"	"c.2477-1_2477del"	"r.spl?"	"p.?"	""
"0000859151"	"00018751"	"90"	"685"	"0"	"685"	"0"	"c.685del"	"r.(?)"	"p.(Val229Tyrfs*22)"	""
"0000859152"	"00018751"	"70"	"2004"	"0"	"2031"	"0"	"c.2004_2031dup"	"r.(?)"	"p.(Asp678Argfs*10)"	""
"0000859153"	"00018751"	"90"	"3214"	"0"	"3214"	"0"	"c.3214C>T"	"r.(?)"	"p.(Arg1072Ter)"	""
"0000859154"	"00018751"	"90"	"3520"	"0"	"3520"	"0"	"c.3520C>T"	"r.(?)"	"p.(Arg1174Ter)"	""
"0000859155"	"00018751"	"50"	"4115"	"0"	"4115"	"0"	"c.4115C>T"	"r.(?)"	"p.(Thr1372Ile)"	""
"0000871141"	"00018751"	"90"	"2158"	"0"	"2158"	"0"	"c.2158G>T"	"r.(?)"	"p.(Glu720*)"	""
"0000877297"	"00018751"	"70"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Gln795*)"	"17"
"0000886017"	"00018751"	"70"	"1043"	"0"	"1043"	"0"	"c.1043G>A"	"r.(?)"	"p.(Arg348Gln)"	""
"0000886018"	"00018751"	"50"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Pro356Ser)"	""
"0000886019"	"00018751"	"30"	"2927"	"0"	"2927"	"0"	"c.2927C>G"	"r.(?)"	"p.(Ala976Gly)"	""
"0000886020"	"00018751"	"90"	"2983"	"0"	"2983"	"0"	"c.2983C>T"	"r.(?)"	"p.(Arg995*)"	""
"0000886021"	"00018751"	"90"	"3382"	"0"	"3382"	"0"	"c.3382A>T"	"r.(?)"	"p.(Lys1128*)"	""
"0000886022"	"00018751"	"30"	"3458"	"0"	"3458"	"0"	"c.3458C>T"	"r.(?)"	"p.(Ser1153Leu)"	""
"0000903131"	"00018751"	"90"	"2476"	"198"	"2476"	"198"	"c.2476+198A>C"	"r.(?)"	"p.(?)"	""
"0000903137"	"00018751"	"10"	"568"	"-31"	"568"	"0"	"c.568-31_568dup"	"r.(?)"	"p.(?)"	""
"0000904369"	"00018751"	"70"	"1052"	"0"	"1052"	"0"	"c.1052G>A"	"r.(?)"	"p.(Arg351Lys)"	""
"0000908862"	"00018751"	"70"	"960"	"-5"	"960"	"-5"	"c.960-5C>G"	"r.960_1077del"	"p.Lys320_Cys396"	""
"0000924011"	"00018751"	"70"	"764"	"0"	"764"	"0"	"c.764del"	"r.(?)"	"p.(Lys255Argfs*32)"	""
"0000924012"	"00018751"	"30"	"810"	"4"	"810"	"4"	"c.810+4A>G"	"r.spl?"	"p.?"	""
"0000924013"	"00018751"	"90"	"3526"	"0"	"3526"	"0"	"c.3526C>T"	"r.(?)"	"p.(Arg1176Ter)"	""
"0000928830"	"00018751"	"90"	"1629"	"0"	"1630"	"0"	"c.1629_1630insACTCT"	"r.(?)"	"p.(Glu544Thrfs*44)"	""
"0000928831"	"00018751"	"90"	"1633"	"0"	"1636"	"0"	"c.1633_1636del"	"r.(?)"	"p.(Ile545Leufs*40)"	""
"0000939798"	"00018751"	"70"	"988"	"0"	"988"	"0"	"c.988A>G"	"r.(?)"	"p.(Lys330Glu)"	"10"
"0000939817"	"00018751"	"70"	"670"	"0"	"670"	"0"	"c.670C>T"	"r.(?)"	"p.(Gln224Ter)"	"8"
"0000939819"	"00018751"	"70"	"1709"	"0"	"1710"	"0"	"c.1709_1710del"	"r.(?)"	"p.(Ser570CysfsTer42)"	"14"
"0000945240"	"00018751"	"90"	"2347"	"-7"	"2347"	"-7"	"c.2347-7A>G"	"r.(?)"	"p.(?)"	""
"0000945934"	"00018751"	"70"	"972"	"0"	"972"	"0"	"c.972del"	"r.(?)"	"p.(Phe324Leufs*11)"	"10"
"0000948222"	"00018751"	"90"	"941"	"0"	"941"	"0"	"c.941A>G"	"r.(?)"	"p.(Asn314Ser)"	""
"0000948223"	"00018751"	"50"	"1361"	"0"	"1361"	"0"	"c.1361A>G"	"r.(?)"	"p.(Gln454Arg)"	""
"0000948224"	"00018751"	"50"	"1707"	"0"	"1707"	"0"	"c.1707C>A"	"r.(?)"	"p.(Asn569Lys)"	""
"0000948225"	"00018751"	"50"	"3186"	"0"	"3186"	"0"	"c.3186G>C"	"r.(?)"	"p.(Gln1062His)"	""
"0000960269"	"00018751"	"70"	"3196"	"-2"	"3196"	"-2"	"c.3196-2A>G"	"r.spl"	"p.?"	""
"0000962933"	"00018751"	"50"	"1535"	"0"	"1535"	"0"	"c.1535A>T"	"r.(?)"	"p.(Asp512Val)"	""
"0000962934"	"00018751"	"30"	"3137"	"0"	"3137"	"0"	"c.3137G>C"	"r.(?)"	"p.(Gly1046Ala)"	""
"0000976007"	"00018751"	"50"	"179"	"0"	"179"	"0"	"c.179C>T"	"r.(?)"	"p.(Thr60Met)"	""
"0000976008"	"00018751"	"70"	"692"	"0"	"692"	"0"	"c.692dup"	"r.(?)"	"p.(Asn231Lysfs*4)"	""
"0000976009"	"00018751"	"50"	"1344"	"0"	"1344"	"0"	"c.1344G>C"	"r.(?)"	"p.(Glu448Asp)"	""
"0000976010"	"00018751"	"70"	"2416"	"0"	"2416"	"0"	"c.2416C>T"	"r.(?)"	"p.(Gln806*)"	""
"0000976011"	"00018751"	"70"	"2669"	"0"	"2669"	"0"	"c.2669del"	"r.(?)"	"p.(Ser890Tyrfs*31)"	""
"0000976012"	"00018751"	"50"	"3301"	"0"	"3301"	"0"	"c.3301C>G"	"r.(?)"	"p.(Gln1101Glu)"	""
"0000993942"	"00018751"	"30"	"150"	"0"	"150"	"0"	"c.150G>C"	"r.(?)"	"p.(Arg50Ser)"	""
"0000993943"	"00018751"	"50"	"245"	"0"	"245"	"0"	"c.245C>T"	"r.(?)"	"p.(Pro82Leu)"	""
"0000993944"	"00018751"	"30"	"504"	"0"	"504"	"0"	"c.504A>C"	"r.(?)"	"p.(Lys168Asn)"	""
"0000993945"	"00018751"	"70"	"1250"	"0"	"1250"	"0"	"c.1250dup"	"r.(?)"	"p.(Asn417Lysfs*3)"	""
"0000993946"	"00018751"	"30"	"1304"	"0"	"1304"	"0"	"c.1304T>C"	"r.(?)"	"p.(Ile435Thr)"	""
"0000993947"	"00018751"	"30"	"1473"	"0"	"1475"	"0"	"c.1473_1475del"	"r.(?)"	"p.(Glu492del)"	""
"0000993948"	"00018751"	"50"	"1591"	"0"	"1591"	"0"	"c.1591C>T"	"r.(?)"	"p.(Arg531Trp)"	""
"0000993949"	"00018751"	"30"	"1801"	"0"	"1801"	"0"	"c.1801C>G"	"r.(?)"	"p.(Leu601Val)"	""
"0000993950"	"00018751"	"30"	"2437"	"0"	"2437"	"0"	"c.2437G>A"	"r.(?)"	"p.(Glu813Lys)"	""
"0000993951"	"00018751"	"30"	"2471"	"0"	"2471"	"0"	"c.2471A>G"	"r.(?)"	"p.(Asn824Ser)"	""
"0000993952"	"00018751"	"30"	"2819"	"0"	"2819"	"0"	"c.2819G>A"	"r.(?)"	"p.(Gly940Asp)"	""
"0000993953"	"00018751"	"30"	"3108"	"0"	"3108"	"0"	"c.3108C>A"	"r.(?)"	"p.(Asp1036Glu)"	""
"0000993954"	"00018751"	"50"	"3110"	"0"	"3110"	"0"	"c.3110T>C"	"r.(?)"	"p.(Leu1037Pro)"	""
"0000993955"	"00018751"	"30"	"3319"	"0"	"3319"	"0"	"c.3319G>A"	"r.(?)"	"p.(Val1107Ile)"	""
"0000993956"	"00018751"	"30"	"3771"	"0"	"3771"	"0"	"c.3771G>C"	"r.(?)"	"p.(Gln1257His)"	""
"0000993957"	"00018751"	"30"	"4013"	"0"	"4013"	"0"	"c.4013G>A"	"r.(?)"	"p.(Arg1338Lys)"	""
"0001007052"	"00018751"	"90"	"1333"	"0"	"1333"	"0"	"c.1333C>T"	"r.(?)"	"p.(Arg445Ter)"	""
"0001007611"	"00018751"	"70"	"3166"	"0"	"3166"	"0"	"c.3166del"	"r.(?)"	"p.(Ala1056Profs*88)"	"19"
"0001013918"	"00018751"	"50"	"2464"	"0"	"2464"	"0"	"c.2464A>G"	"r.(?)"	"p.(Lys822Glu)"	""
"0001024867"	"00018751"	"70"	"2346"	"1"	"2346"	"1"	"c.2346+1G>A"	"r.spl?"	"p.?"	""
"0001030852"	"00018751"	"70"	"2231"	"0"	"2231"	"0"	"c.2231A>G"	"r.?"	"p.(His744Arg)"	"16"
"0001034196"	"00018751"	"30"	"-176"	"-5313"	"-176"	"-5313"	"c.-176-5313T>C"	"r.(=)"	"p.(=)"	""
"0001034197"	"00018751"	"30"	"886"	"0"	"886"	"0"	"c.886A>G"	"r.(?)"	"p.(Thr296Ala)"	""
"0001034198"	"00018751"	"50"	"1213"	"0"	"1213"	"0"	"c.1213C>T"	"r.(?)"	"p.(His405Tyr)"	""
"0001034199"	"00018751"	"50"	"1591"	"0"	"1591"	"0"	"c.1591C>T"	"r.(?)"	"p.(Arg531Trp)"	""
"0001034200"	"00018751"	"50"	"1772"	"0"	"1772"	"0"	"c.1772C>T"	"r.(?)"	"p.(Ser591Phe)"	""
"0001034201"	"00018751"	"50"	"2297"	"0"	"2297"	"0"	"c.2297G>C"	"r.(?)"	"p.(Arg766Thr)"	""
"0001034202"	"00018751"	"30"	"2645"	"0"	"2645"	"0"	"c.2645G>A"	"r.(?)"	"p.(Arg882Gln)"	""
"0001034203"	"00018751"	"50"	"2945"	"0"	"2945"	"0"	"c.2945A>G"	"r.(?)"	"p.(Asn982Ser)"	""
"0001034204"	"00018751"	"30"	"3565"	"0"	"3565"	"0"	"c.3565G>A"	"r.(?)"	"p.(Val1189Met)"	""
"0001034205"	"00018751"	"30"	"3829"	"0"	"3829"	"0"	"c.3829A>G"	"r.(?)"	"p.(Thr1277Ala)"	""
"0001045940"	"00018751"	"50"	"94"	"0"	"94"	"0"	"c.94C>G"	"r.(?)"	"p.(Pro32Ala)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}"	"{{variantid}}"
"0000016228"	"0000035954"
"0000016228"	"0000472235"
"0000016229"	"0000035955"
"0000111863"	"0000179021"
"0000145376"	"0000236489"
"0000152242"	"0000245376"
"0000165579"	"0000369304"
"0000175274"	"0000395145"
"0000230661"	"0000472236"
"0000230662"	"0000472237"
"0000230663"	"0000472238"
"0000230664"	"0000472239"
"0000277281"	"0000632048"
"0000308909"	"0000683343"
"0000308910"	"0000683344"
"0000308911"	"0000683345"
"0000308912"	"0000683346"
"0000308913"	"0000683347"
"0000308914"	"0000683348"
"0000308915"	"0000683349"
"0000309112"	"0000683575"
"0000309113"	"0000683576"
"0000316216"	"0000698366"
"0000378367"	"0000791122"
"0000413633"	"0000871141"
"0000417579"	"0000877297"
"0000429389"	"0000908862"
"0000441856"	"0000939798"
"0000441875"	"0000939817"
"0000441877"	"0000939819"
"0000444091"	"0000945934"
"0000449786"	"0000960269"
"0000455428"	"0001007611"
"0000466869"	"0001030852"