### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GLI2)
# 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}}"
"GLI2"	"GLI family zinc finger 2"	"2"	"q14"	"unknown"	"NG_009030.1"	"UD_132118323255"	""	"https://www.LOVD.nl/GLI2"	""	"1"	"4318"	"2736"	"165230"	"1"	"1"	"1"	"1"	"We gratefully acknowledge <b><i>Aimée Paulussen</i></b> for acting as a curator untill 2016. Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"00006"	"2019-01-21 12:29:04"	"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}}"
"00001203"	"GLI2"	"GLI family zinc finger 2"	"001"	"NM_005270.4"	""	"NP_005261.2"	""	""	""	"-30"	"6739"	"4761"	"121554867"	"121750229"	"00000"	"2012-09-13 13:18:41"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{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"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"00438"	"HPE"	"holoprosencephaly (HPE)"	""	"236100"	""	""	""	"00662"	"2014-06-30 10:33:45"	"00006"	"2015-12-04 07:41:19"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02986"	"HPE9"	"holoprosencephaly, type 9 (HPE-9)"	"AD"	"610829"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04105"	"CJS;PHS2"	"Culler-Jones syndrome (CJS, Pallister-Hall syndrome type 2 (PHS-2))"	"AD"	"615849"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04184"	"stature, short"	"stature, short"	""	""	""	""	""	"00006"	"2015-02-09 15:44:22"	"00006"	"2015-02-09 15:45:17"
"05521"	"seizures"	"seizures"	""	""	""	""	""	"00006"	"2018-11-18 17:02:13"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"GLI2"	"00438"
"GLI2"	"02986"
"GLI2"	"04105"


## Individuals ## Do not remove or alter this header ##
## Count = 13
"{{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}}"
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00050717"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00181199"	""	""	""	"1"	""	"02552"	""	""	"F"	""	""	""	"0"	""	""	""	"73704"
"00292236"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292237"	""	""	""	"15"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292238"	""	""	""	"91"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292239"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292240"	""	""	""	"87"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00303023"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat68"
"00304685"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304686"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00453448"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00466698"	""	""	""	"1"	""	"00006"	"{PMID:Plachy 2019:30753492}"	""	"F"	""	"Czech Republic"	""	"0"	""	""	""	"Pat19"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 13
"{{individualid}}"	"{{diseaseid}}"
"00000209"	"01157"
"00050717"	"00198"
"00181199"	"00344"
"00292236"	"00198"
"00292237"	"00198"
"00292238"	"00198"
"00292239"	"00198"
"00292240"	"00198"
"00303023"	"05521"
"00304685"	"00198"
"00304686"	"00198"
"00453448"	"00198"
"00466698"	"04184"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 00438, 01157, 02986, 04105, 04184, 05521
## Count = 6
"{{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}}"
"0000037329"	"00198"	"00050717"	"00006"	"Unknown"	""	"low-set ears, epicanthus, micrognathia, 2-3 toe syndactyly, muscular hypotonia, thin lips, almond-shaped palpebral fissure, global developmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000143994"	"00344"	"00181199"	"02552"	"Isolated (sporadic)"	""	""	"05y05m"	""	""	""	""	""	""	""	""	""	""
"0000230106"	"05521"	"00303023"	"00006"	"Unknown"	""	"Unclassified epilepsy; age onset unknown"	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000342113"	"00198"	"00453448"	"03544"	"Isolated (sporadic)"	""	"HP:0010864, HP:0001250"	""	""	""	""	""	""	""	""	""	"intellectual disability, epilepsy"	""
"0000352061"	"04184"	"00466698"	"00006"	"Unknown"	"8y"	"see paper; ..., small for gestational age, growth hormone  deficiency, limb shortening; height SDS-3.82; birth weight SDS-0.84, length SDS-2.14"	""	""	""	""	""	""	""	""	""	"short stature"	""


## Screenings ## Do not remove or alter this header ##
## Count = 13
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000050662"	"00050717"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000182157"	"00181199"	"1"	"02552"	"02552"	"2018-10-02 18:02:47"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000293404"	"00292236"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293405"	"00292237"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293406"	"00292238"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293407"	"00292239"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293408"	"00292240"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000304148"	"00303023"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000305814"	"00304685"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305815"	"00304686"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000455062"	"00453448"	"1"	"03544"	"03544"	"2024-08-29 13:19:52"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000468362"	"00466698"	"1"	"00006"	"00006"	"2025-09-23 14:50:33"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000050662"	"GLI2"
"0000050662"	"NRXN1"
"0000304148"	"GLI2"


## 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 = 237
"{{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}}"
"0000011706"	"3"	"50"	"2"	"121559341"	"121559341"	"subst"	"0"	"00037"	"GLI2_000001"	"g.121559341T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.120801765T>C"	""	"VUS"	""
"0000079642"	"21"	"90"	"2"	"121708956"	"121708956"	"subst"	"0.00023972"	"00006"	"GLI2_000002"	"g.121708956G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120951380G>A"	""	"pathogenic"	""
"0000248493"	"0"	"10"	"2"	"121747429"	"121747429"	"subst"	"0.636498"	"02325"	"GLI2_000030"	"g.121747429A>G"	""	""	""	"GLI2(NM_005270.5):c.3939A>G (p.P1313=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120989853A>G"	""	"benign"	""
"0000249503"	"0"	"30"	"2"	"121736178"	"121736178"	"subst"	"0"	"02325"	"GLI2_000010"	"g.121736178A>C"	""	""	""	"GLI2(NM_005270.5):c.1518+19A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120978602A>C"	""	"likely benign"	""
"0000277322"	"0"	"30"	"2"	"121748048"	"121748048"	"subst"	"0.00936829"	"02330"	"GLI2_000021"	"g.121748048G>A"	""	""	""	"GLI2(NM_001371271.1):c.4558G>A (p.D1520N), GLI2(NM_001374353.1):c.4507G>A (p.(Asp1520Asn)), GLI2(NM_005270.4):c.4558G>A (p.D1520N), GLI2(NM_005270...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990472G>A"	""	"likely benign"	""
"0000277323"	"0"	"10"	"2"	"121726366"	"121726366"	"subst"	"0.00740277"	"02330"	"GLI2_000005"	"g.121726366C>T"	""	""	""	"GLI2(NM_005270.4):c.720C>T (p.D240=), GLI2(NM_005270.5):c.720C>T (p.D240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120968790C>T"	""	"benign"	""
"0000281068"	"0"	"30"	"2"	"121736173"	"121736173"	"subst"	"0"	"02325"	"GLI2_000009"	"g.121736173T>C"	""	""	""	"GLI2(NM_005270.5):c.1518+14T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120978597T>C"	""	"likely benign"	""
"0000281069"	"0"	"10"	"2"	"121746956"	"121746956"	"subst"	"0.632318"	"02325"	"GLI2_000016"	"g.121746956G>T"	""	""	""	"GLI2(NM_005270.5):c.3466G>T (p.A1156S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120989380G>T"	""	"benign"	""
"0000281070"	"0"	"10"	"2"	"121748048"	"121748048"	"subst"	"0.00936829"	"02325"	"GLI2_000021"	"g.121748048G>A"	""	""	""	"GLI2(NM_001371271.1):c.4558G>A (p.D1520N), GLI2(NM_001374353.1):c.4507G>A (p.(Asp1520Asn)), GLI2(NM_005270.4):c.4558G>A (p.D1520N), GLI2(NM_005270...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990472G>A"	""	"benign"	""
"0000281071"	"0"	"30"	"2"	"121748153"	"121748153"	"subst"	"0.000767862"	"02325"	"GLI2_000023"	"g.121748153T>C"	""	""	""	"GLI2(NM_001371271.1):c.4663T>C (p.S1555P), GLI2(NM_005270.5):c.4663T>C (p.S1555P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990577T>C"	""	"likely benign"	""
"0000281072"	"0"	"10"	"2"	"121713022"	"121713022"	"subst"	"0.999974"	"02325"	"GLI2_000004"	"g.121713022C>G"	""	""	""	"GLI2(NM_005270.5):c.643+16C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120955446C>G"	""	"benign"	""
"0000281073"	"0"	"10"	"2"	"121726447"	"121726447"	"subst"	"0.949841"	"02325"	"GLI2_000006"	"g.121726447G>A"	""	""	""	"GLI2(NM_005270.5):c.801G>A (p.S267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120968871G>A"	""	"benign"	""
"0000283375"	"0"	"50"	"2"	"121742296"	"121742296"	"subst"	"0"	"02329"	"GLI2_000013"	"g.121742296G>A"	""	""	""	"GLI2(NM_005270.5):c.1933G>A (p.A645T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120984720G>A"	""	"VUS"	""
"0000284703"	"0"	"30"	"2"	"121743982"	"121743982"	"subst"	"0.000505656"	"02326"	"GLI2_000015"	"g.121743982G>A"	""	""	""	"GLI2(NM_001371271.1):c.2085G>A (p.T695=), GLI2(NM_005270.4):c.2085G>A (p.T695=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120986406G>A"	""	"likely benign"	""
"0000284704"	"0"	"30"	"2"	"121708955"	"121708955"	"subst"	"4.06332E-6"	"02326"	"GLI2_000003"	"g.121708955C>T"	""	""	""	"GLI2(NM_005270.4):c.391C>T (p.R131C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120951379C>T"	""	"likely benign"	""
"0000284705"	"0"	"30"	"2"	"121747822"	"121747822"	"subst"	"0.00985877"	"02326"	"GLI2_000020"	"g.121747822G>A"	""	""	""	"GLI2(NM_001371271.1):c.4332G>A (p.M1444I), GLI2(NM_005270.4):c.4332G>A (p.(Met1444Ile), p.M1444I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990246G>A"	""	"likely benign"	""
"0000284706"	"0"	"30"	"2"	"121748048"	"121748048"	"subst"	"0.00936829"	"02326"	"GLI2_000021"	"g.121748048G>A"	""	""	""	"GLI2(NM_001371271.1):c.4558G>A (p.D1520N), GLI2(NM_001374353.1):c.4507G>A (p.(Asp1520Asn)), GLI2(NM_005270.4):c.4558G>A (p.D1520N), GLI2(NM_005270...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990472G>A"	""	"likely benign"	""
"0000288414"	"0"	"30"	"2"	"121729540"	"121729540"	"subst"	"1.21856E-5"	"01943"	"GLI2_000007"	"g.121729540C>T"	""	""	""	"GLI2(NM_005270.4):c.1083C>T (p.A361=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120971964C>T"	""	"likely benign"	""
"0000288415"	"0"	"50"	"2"	"121736159"	"121736159"	"subst"	"8.1688E-6"	"01943"	"GLI2_000008"	"g.121736159G>A"	""	""	""	"GLI2(NM_005270.4):c.1518G>A (p.T506=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120978583G>A"	""	"VUS"	""
"0000288416"	"0"	"30"	"2"	"121742043"	"121742043"	"subst"	"5.6993E-5"	"01943"	"GLI2_000011"	"g.121742043C>G"	""	""	""	"GLI2(NM_001371271.1):c.1684-4C>G, GLI2(NM_005270.4):c.1684-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120984467C>G"	""	"likely benign"	""
"0000288417"	"0"	"10"	"2"	"121742222"	"121742222"	"subst"	"0.00236988"	"01943"	"GLI2_000012"	"g.121742222C>T"	""	""	""	"GLI2(NM_001371271.1):c.1859C>T (p.T620M), GLI2(NM_005270.4):c.1859C>T (p.T620M, p.(Thr620Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120984646C>T"	""	"benign"	""
"0000288418"	"0"	"30"	"2"	"121743883"	"121743883"	"subst"	"0.00348226"	"01943"	"GLI2_000014"	"g.121743883G>A"	""	""	""	"GLI2(NM_005270.4):c.1986G>A (p.S662=), GLI2(NM_005270.5):c.1986G>A (p.S662=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120986307G>A"	""	"likely benign"	""
"0000288419"	"0"	"30"	"2"	"121747113"	"121747113"	"subst"	"0.000220992"	"01943"	"GLI2_000017"	"g.121747113G>A"	""	""	""	"GLI2(NM_005270.4):c.3623G>A (p.R1208H, p.(Arg1208His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120989537G>A"	""	"likely benign"	""
"0000288420"	"0"	"30"	"2"	"121747571"	"121747571"	"subst"	"0.000157935"	"01943"	"GLI2_000018"	"g.121747571G>T"	""	""	""	"GLI2(NM_005270.4):c.4081G>T (p.V1361L), GLI2(NM_005270.5):c.4081G>T (p.V1361L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120989995G>T"	""	"likely benign"	""
"0000288421"	"0"	"30"	"2"	"121747711"	"121747711"	"subst"	"0.000185751"	"01943"	"GLI2_000019"	"g.121747711G>A"	""	""	""	"GLI2(NM_005270.4):c.4221G>A (p.P1407=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990135G>A"	""	"likely benign"	""
"0000288422"	"0"	"50"	"2"	"121748121"	"121748121"	"subst"	"0"	"01943"	"GLI2_000022"	"g.121748121T>C"	""	""	""	"GLI2(NM_005270.4):c.4631T>C (p.L1544P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990545T>C"	""	"VUS"	""
"0000288423"	"0"	"10"	"2"	"121726366"	"121726366"	"subst"	"0.00740277"	"01943"	"GLI2_000005"	"g.121726366C>T"	""	""	""	"GLI2(NM_005270.4):c.720C>T (p.D240=), GLI2(NM_005270.5):c.720C>T (p.D240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120968790C>T"	""	"benign"	""
"0000339034"	"0"	"50"	"2"	"121742162"	"121742162"	"subst"	"8.12348E-6"	"02327"	"GLI2_000028"	"g.121742162G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120984586G>A"	""	"VUS"	""
"0000342269"	"0"	"50"	"2"	"121726296"	"121726296"	"subst"	"3.26208E-5"	"02327"	"GLI2_000026"	"g.121726296G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120968720G>A"	""	"VUS"	""
"0000343240"	"0"	"90"	"2"	"121684987"	"121684987"	"subst"	"4.06062E-6"	"02327"	"GLI2_000024"	"g.121684987C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120927411C>T"	""	"pathogenic"	""
"0000343930"	"0"	"50"	"2"	"121709018"	"121709018"	"subst"	"0"	"02327"	"GLI2_000025"	"g.121709018G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120951442G>A"	""	"VUS"	""
"0000345161"	"0"	"50"	"2"	"121748219"	"121748219"	"subst"	"0.000167281"	"02327"	"GLI2_000029"	"g.121748219G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120990643G>A"	""	"VUS"	""
"0000348291"	"0"	"70"	"2"	"121726308"	"121726308"	"subst"	"2.85216E-5"	"02327"	"GLI2_000027"	"g.121726308C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120968732C>T"	""	"likely pathogenic"	""
"0000406023"	"11"	"30"	"2"	"121712934"	"121712934"	"subst"	"9.36719E-5"	"02552"	"GLI2_000031"	"g.121712934G>A"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"Germline"	""	"rs202141899"	"0"	""	""	"g.120955358G>A"	""	"likely benign"	""
"0000509044"	"0"	"10"	"2"	"121554890"	"121554890"	"subst"	"0.0022157"	"02330"	"GLI2_000032"	"g.121554890G>A"	""	""	""	"GLI2(NM_005270.5):c.-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120797314G>A"	""	"benign"	""
"0000509045"	"0"	"10"	"2"	"121554890"	"121554890"	"subst"	"0.0022157"	"02327"	"GLI2_000032"	"g.121554890G>A"	""	""	""	"GLI2(NM_005270.5):c.-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120797314G>A"	""	"benign"	""
"0000509046"	"0"	"30"	"2"	"121554926"	"121554926"	"subst"	"2.84338E-5"	"01943"	"GLI2_000033"	"g.121554926C>T"	""	""	""	"GLI2(NM_005270.4):c.30C>T (p.S10=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120797350C>T"	""	"likely benign"	""
"0000509047"	"0"	"30"	"2"	"121554963"	"121554963"	"subst"	"2.84386E-5"	"01943"	"GLI2_000034"	"g.121554963G>A"	""	""	""	"GLI2(NM_005270.4):c.67G>A (p.A23T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120797387G>A"	""	"likely benign"	""
"0000509048"	"0"	"10"	"2"	"121685108"	"121685108"	"subst"	"0"	"02327"	"GLI2_000035"	"g.121685108C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120927532C>T"	""	"benign"	""
"0000509049"	"0"	"10"	"2"	"121708802"	"121708802"	"subst"	"0.00193071"	"02327"	"GLI2_000036"	"g.121708802G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120951226G>T"	""	"benign"	""
"0000509051"	"0"	"50"	"2"	"121708885"	"121708885"	"subst"	"0.00330595"	"02327"	"GLI2_000038"	"g.121708885G>A"	""	""	""	"GLI2(NM_001374353.1):c.321G>A (p.(Pro107=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120951309G>A"	""	"VUS"	""
"0000509052"	"0"	"10"	"2"	"121708906"	"121708906"	"subst"	"0"	"02330"	"GLI2_000039"	"g.121708906C>T"	""	""	""	"GLI2(NM_005270.5):c.342C>T (p.P114=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120951330C>T"	""	"benign"	""
"0000509053"	"0"	"70"	"2"	"121708913"	"121708913"	"subst"	"5.30526E-5"	"02327"	"GLI2_000040"	"g.121708913G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120951337G>A"	""	"likely pathogenic"	""
"0000509054"	"0"	"30"	"2"	"121712961"	"121712961"	"subst"	"0.000197456"	"01943"	"GLI2_000041"	"g.121712961G>A"	""	""	""	"GLI2(NM_005270.4):c.598G>A (p.A200T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120955385G>A"	""	"likely benign"	""
"0000509055"	"0"	"50"	"2"	"121712961"	"121712961"	"subst"	"0.000197456"	"02327"	"GLI2_000041"	"g.121712961G>A"	""	""	""	"GLI2(NM_005270.4):c.598G>A (p.A200T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120955385G>A"	""	"VUS"	""
"0000509056"	"0"	"30"	"2"	"121712970"	"121712970"	"subst"	"0.000734875"	"01943"	"GLI2_000042"	"g.121712970G>A"	""	""	""	"GLI2(NM_001371271.1):c.607G>A (p.A203T), GLI2(NM_005270.4):c.607G>A (p.A203T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120955394G>A"	""	"likely benign"	""
"0000509057"	"0"	"10"	"2"	"121713022"	"121713022"	"subst"	"0.999974"	"02330"	"GLI2_000004"	"g.121713022C>G"	""	""	""	"GLI2(NM_005270.5):c.643+16C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120955446C>G"	""	"benign"	""
"0000509058"	"0"	"50"	"2"	"121726341"	"121726341"	"subst"	"2.84571E-5"	"01943"	"GLI2_000043"	"g.121726341C>T"	""	""	""	"GLI2(NM_005270.4):c.695C>T (p.A232V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120968765C>T"	""	"VUS"	""
"0000509059"	"0"	"30"	"2"	"121726342"	"121726342"	"subst"	"0"	"01943"	"GLI2_000044"	"g.121726342G>A"	""	""	""	"GLI2(NM_005270.4):c.696G>A (p.A232=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120968766G>A"	""	"likely benign"	""
"0000509060"	"0"	"30"	"2"	"121726386"	"121726386"	"subst"	"8.12447E-6"	"02327"	"GLI2_000045"	"g.121726386G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120968810G>A"	""	"likely benign"	""
"0000509061"	"0"	"10"	"2"	"121726447"	"121726447"	"subst"	"0.949841"	"02330"	"GLI2_000006"	"g.121726447G>A"	""	""	""	"GLI2(NM_005270.5):c.801G>A (p.S267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120968871G>A"	""	"benign"	""
"0000509062"	"0"	"10"	"2"	"121726501"	"121726501"	"subst"	"0.000300933"	"02330"	"GLI2_000046"	"g.121726501G>A"	""	""	""	"GLI2(NM_005270.5):c.845+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120968925G>A"	""	"benign"	""
"0000509063"	"0"	"10"	"2"	"121728086"	"121728086"	"subst"	"0.00382144"	"02327"	"GLI2_000047"	"g.121728086C>G"	""	""	""	"GLI2(NM_005270.5):c.963C>G (p.P321=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120970510C>G"	""	"benign"	""
"0000509064"	"0"	"30"	"2"	"121732628"	"121732628"	"subst"	"0"	"02327"	"GLI2_000048"	"g.121732628C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120975052C>A"	""	"likely benign"	""
"0000509065"	"0"	"10"	"2"	"121732628"	"121732628"	"subst"	"0.000747263"	"02327"	"GLI2_000049"	"g.121732628C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120975052C>T"	""	"benign"	""
"0000509067"	"0"	"30"	"2"	"121736069"	"121736069"	"subst"	"8.12334E-6"	"01943"	"GLI2_000051"	"g.121736069C>T"	""	""	""	"GLI2(NM_005270.4):c.1428C>T (p.A476=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120978493C>T"	""	"likely benign"	""
"0000509068"	"0"	"30"	"2"	"121742043"	"121742043"	"subst"	"5.6993E-5"	"02327"	"GLI2_000011"	"g.121742043C>G"	""	""	""	"GLI2(NM_001371271.1):c.1684-4C>G, GLI2(NM_005270.4):c.1684-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120984467C>G"	""	"likely benign"	""
"0000509069"	"0"	"50"	"2"	"121742108"	"121742108"	"subst"	"0"	"02327"	"GLI2_000052"	"g.121742108G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120984532G>A"	""	"VUS"	""
"0000509070"	"0"	"10"	"2"	"121742124"	"121742124"	"subst"	"0.011826"	"02330"	"GLI2_000053"	"g.121742124G>A"	""	""	""	"GLI2(NM_005270.5):c.1761G>A (p.T587=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120984548G>A"	""	"benign"	""
"0000509072"	"0"	"10"	"2"	"121742307"	"121742307"	"subst"	"0.0236537"	"02330"	"GLI2_000055"	"g.121742307C>T"	""	""	""	"GLI2(NM_005270.5):c.1944C>T (p.T648=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120984731C>T"	""	"benign"	""
"0000509073"	"0"	"10"	"2"	"121743883"	"121743883"	"subst"	"0.00348226"	"02330"	"GLI2_000014"	"g.121743883G>A"	""	""	""	"GLI2(NM_005270.4):c.1986G>A (p.S662=), GLI2(NM_005270.5):c.1986G>A (p.S662=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986307G>A"	""	"benign"	""
"0000509074"	"0"	"30"	"2"	"121743982"	"121743982"	"subst"	"0.000505656"	"01943"	"GLI2_000015"	"g.121743982G>A"	""	""	""	"GLI2(NM_001371271.1):c.2085G>A (p.T695=), GLI2(NM_005270.4):c.2085G>A (p.T695=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986406G>A"	""	"likely benign"	""
"0000509075"	"0"	"30"	"2"	"121743985"	"121743985"	"subst"	"0.000668607"	"01943"	"GLI2_000056"	"g.121743985A>G"	""	""	""	"GLI2(NM_001371271.1):c.2088A>G (p.A696=), GLI2(NM_005270.4):c.2088A>G (p.A696=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986409A>G"	""	"likely benign"	""
"0000509076"	"0"	"10"	"2"	"121743985"	"121743985"	"subst"	"0.000668607"	"02327"	"GLI2_000056"	"g.121743985A>G"	""	""	""	"GLI2(NM_001371271.1):c.2088A>G (p.A696=), GLI2(NM_005270.4):c.2088A>G (p.A696=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986409A>G"	""	"benign"	""
"0000509077"	"0"	"30"	"2"	"121744056"	"121744056"	"subst"	"0.00042702"	"02325"	"GLI2_000057"	"g.121744056G>A"	""	""	""	"GLI2(NM_005270.4):c.2159G>A (p.(Arg720His)), GLI2(NM_005270.5):c.2159G>A (p.R720H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986480G>A"	""	"likely benign"	""
"0000509079"	"0"	"30"	"2"	"121744084"	"121744084"	"subst"	"0.000703681"	"02327"	"GLI2_000059"	"g.121744084C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986508C>A"	""	"likely benign"	""
"0000509080"	"0"	"30"	"2"	"121744157"	"121744157"	"subst"	"5.72836E-5"	"02327"	"GLI2_000060"	"g.121744157C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986581C>A"	""	"likely benign"	""
"0000509081"	"0"	"30"	"2"	"121744162"	"121744162"	"subst"	"0"	"01804"	"GLI2_000061"	"g.121744162C>G"	""	""	""	"GLI2(NM_005270.4):c.2265C>G (p.(Asn755Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986586C>G"	""	"likely benign"	""
"0000509082"	"0"	"30"	"2"	"121745978"	"121745978"	"subst"	"0.000136609"	"01804"	"GLI2_000062"	"g.121745978T>C"	""	""	""	"GLI2(NM_005270.4):c.2488T>C (p.(Phe830Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988402T>C"	""	"likely benign"	""
"0000509083"	"0"	"50"	"2"	"121745982"	"121745982"	"subst"	"0"	"01804"	"GLI2_000063"	"g.121745982C>T"	""	""	""	"GLI2(NM_005270.4):c.2492C>T (p.(Ser831Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988406C>T"	""	"VUS"	""
"0000509084"	"0"	"50"	"2"	"121746170"	"121746170"	"subst"	"0"	"01804"	"GLI2_000064"	"g.121746170G>C"	""	""	""	"GLI2(NM_005270.4):c.2680G>C (p.(Ala894Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988594G>C"	""	"VUS"	""
"0000509086"	"0"	"10"	"2"	"121746430"	"121746430"	"subst"	"0.00556046"	"02330"	"GLI2_000066"	"g.121746430C>T"	""	""	""	"GLI2(NM_005270.5):c.2940C>T (p.S980=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988854C>T"	""	"benign"	""
"0000509088"	"0"	"30"	"2"	"121746508"	"121746508"	"subst"	"0.00439"	"01943"	"GLI2_000068"	"g.121746508C>T"	""	""	""	"GLI2(NM_001371271.1):c.3018C>T (p.G1006=), GLI2(NM_005270.4):c.3018C>T (p.G1006=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988932C>T"	""	"likely benign"	""
"0000509089"	"0"	"30"	"2"	"121746528"	"121746528"	"subst"	"5.76219E-5"	"01943"	"GLI2_000069"	"g.121746528C>G"	""	""	""	"GLI2(NM_005270.4):c.3038C>G (p.P1013R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988952C>G"	""	"likely benign"	""
"0000509090"	"0"	"10"	"2"	"121746538"	"121746538"	"subst"	"0.00560538"	"02330"	"GLI2_000070"	"g.121746538C>T"	""	""	""	"GLI2(NM_005270.5):c.3048C>T (p.D1016=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988962C>T"	""	"benign"	""
"0000509092"	"0"	"30"	"2"	"121746773"	"121746773"	"subst"	"0"	"01943"	"GLI2_000072"	"g.121746773G>C"	""	""	""	"GLI2(NM_005270.4):c.3283G>C (p.D1095H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989197G>C"	""	"likely benign"	""
"0000509093"	"0"	"30"	"2"	"121746847"	"121746847"	"subst"	"0"	"02327"	"GLI2_000073"	"g.121746847C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989271C>T"	""	"likely benign"	""
"0000509094"	"0"	"30"	"2"	"121746950"	"121746950"	"subst"	"0.000792982"	"02327"	"GLI2_000074"	"g.121746950G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989374G>A"	""	"likely benign"	""
"0000509096"	"0"	"10"	"2"	"121746956"	"121746956"	"subst"	"0.632318"	"02330"	"GLI2_000016"	"g.121746956G>T"	""	""	""	"GLI2(NM_005270.5):c.3466G>T (p.A1156S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989380G>T"	""	"benign"	""
"0000509097"	"0"	"10"	"2"	"121746956"	"121746956"	"subst"	"0.632318"	"02327"	"GLI2_000016"	"g.121746956G>T"	""	""	""	"GLI2(NM_005270.5):c.3466G>T (p.A1156S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989380G>T"	""	"benign"	""
"0000509098"	"0"	"90"	"2"	"121746992"	"121746992"	"subst"	"0"	"02327"	"GLI2_000076"	"g.121746992C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989416C>T"	""	"pathogenic"	""
"0000509099"	"0"	"30"	"2"	"121747018"	"121747018"	"subst"	"0.000599639"	"01804"	"GLI2_000077"	"g.121747018G>T"	""	""	""	"GLI2(NM_005270.4):c.3528G>T (p.(Gln1176His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989442G>T"	""	"likely benign"	""
"0000509100"	"0"	"10"	"2"	"121747080"	"121747080"	"subst"	"0.00119969"	"01943"	"GLI2_000078"	"g.121747080G>A"	""	""	""	"GLI2(NM_005270.4):c.3590G>A (p.G1197D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989504G>A"	""	"benign"	""
"0000509101"	"0"	"30"	"2"	"121747118"	"121747118"	"subst"	"1.66246E-5"	"01943"	"GLI2_000079"	"g.121747118G>A"	""	""	""	"GLI2(NM_005270.4):c.3628G>A (p.G1210R, p.(Gly1210Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989542G>A"	""	"likely benign"	""
"0000509103"	"0"	"70"	"2"	"121747166"	"121747166"	"subst"	"0"	"02327"	"GLI2_000081"	"g.121747166C>T"	""	""	""	"GLI2(NM_005270.5):c.3676C>T (p.R1226*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989590C>T"	""	"likely pathogenic"	""
"0000509104"	"0"	"30"	"2"	"121747213"	"121747213"	"subst"	"0.00010678"	"01804"	"GLI2_000082"	"g.121747213G>A"	""	""	""	"GLI2(NM_005270.4):c.3723G>A (p.M1241I, p.(Met1241Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989637G>A"	""	"likely benign"	""
"0000509105"	"0"	"30"	"2"	"121747215"	"121747215"	"subst"	"0"	"01804"	"GLI2_000083"	"g.121747215G>A"	""	""	""	"GLI2(NM_005270.4):c.3725G>A (p.(Ser1242Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989639G>A"	""	"likely benign"	""
"0000509106"	"0"	"10"	"2"	"121747372"	"121747372"	"subst"	"0.00674547"	"02330"	"GLI2_000084"	"g.121747372G>A"	""	""	""	"GLI2(NM_005270.5):c.3882G>A (p.T1294=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989796G>A"	""	"benign"	""
"0000509107"	"0"	"10"	"2"	"121747406"	"121747406"	"subst"	"0.64502"	"02330"	"GLI2_000085"	"g.121747406G>A"	""	""	""	"GLI2(NM_005270.5):c.3916G>A (p.D1306N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989830G>A"	""	"benign"	""
"0000509108"	"0"	"10"	"2"	"121747406"	"121747406"	"subst"	"0.64502"	"02325"	"GLI2_000085"	"g.121747406G>A"	""	""	""	"GLI2(NM_005270.5):c.3916G>A (p.D1306N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989830G>A"	""	"benign"	""
"0000509109"	"0"	"10"	"2"	"121747429"	"121747429"	"subst"	"0.636498"	"02330"	"GLI2_000030"	"g.121747429A>G"	""	""	""	"GLI2(NM_005270.5):c.3939A>G (p.P1313=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989853A>G"	""	"benign"	""
"0000509110"	"0"	"30"	"2"	"121747433"	"121747433"	"subst"	"0.0163036"	"02330"	"GLI2_000086"	"g.121747433C>T"	""	""	""	"GLI2(NM_005270.5):c.3943C>T (p.P1315S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989857C>T"	""	"likely benign"	""
"0000509112"	"0"	"30"	"2"	"121747544"	"121747544"	"subst"	"0.00862622"	"02330"	"GLI2_000087"	"g.121747544A>G"	""	""	""	"GLI2(NM_001371271.1):c.4054A>G (p.M1352V), GLI2(NM_001374353.1):c.4003A>G (p.(Met1352Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989968A>G"	""	"likely benign"	""
"0000509113"	"0"	"30"	"2"	"121747544"	"121747544"	"subst"	"0.00862622"	"01804"	"GLI2_000087"	"g.121747544A>G"	""	""	""	"GLI2(NM_001371271.1):c.4054A>G (p.M1352V), GLI2(NM_001374353.1):c.4003A>G (p.(Met1352Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989968A>G"	""	"likely benign"	""
"0000509114"	"0"	"10"	"2"	"121747544"	"121747544"	"subst"	"0.00862622"	"02327"	"GLI2_000087"	"g.121747544A>G"	""	""	""	"GLI2(NM_001371271.1):c.4054A>G (p.M1352V), GLI2(NM_001374353.1):c.4003A>G (p.(Met1352Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989968A>G"	""	"benign"	""
"0000509115"	"0"	"30"	"2"	"121747571"	"121747571"	"subst"	"0.000157935"	"02330"	"GLI2_000018"	"g.121747571G>T"	""	""	""	"GLI2(NM_005270.4):c.4081G>T (p.V1361L), GLI2(NM_005270.5):c.4081G>T (p.V1361L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989995G>T"	""	"likely benign"	""
"0000509116"	"0"	"50"	"2"	"121747587"	"121747587"	"subst"	"0"	"02327"	"GLI2_000088"	"g.121747587T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990011T>C"	""	"VUS"	""
"0000509117"	"0"	"30"	"2"	"121747635"	"121747635"	"subst"	"0.000173981"	"01943"	"GLI2_000089"	"g.121747635G>A"	""	""	""	"GLI2(NM_005270.4):c.4145G>A (p.R1382H), GLI2(NM_005270.5):c.4145G>A (p.R1382H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990059G>A"	""	"likely benign"	""
"0000509118"	"0"	"30"	"2"	"121747635"	"121747635"	"subst"	"0.000173981"	"02325"	"GLI2_000089"	"g.121747635G>A"	""	""	""	"GLI2(NM_005270.4):c.4145G>A (p.R1382H), GLI2(NM_005270.5):c.4145G>A (p.R1382H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990059G>A"	""	"likely benign"	""
"0000509120"	"0"	"30"	"2"	"121748048"	"121748048"	"subst"	"0.00936829"	"01804"	"GLI2_000021"	"g.121748048G>A"	""	""	""	"GLI2(NM_001371271.1):c.4558G>A (p.D1520N), GLI2(NM_001374353.1):c.4507G>A (p.(Asp1520Asn)), GLI2(NM_005270.4):c.4558G>A (p.D1520N), GLI2(NM_005270...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990472G>A"	""	"likely benign"	""
"0000509121"	"0"	"70"	"2"	"121748050"	"121748050"	"subst"	"0.000748065"	"02327"	"GLI2_000091"	"g.121748050T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990474T>G"	""	"likely pathogenic"	""
"0000509123"	"0"	"30"	"2"	"121748118"	"121748118"	"subst"	"0.000548437"	"01804"	"GLI2_000092"	"g.121748118G>A"	""	""	""	"GLI2(NM_005270.4):c.4628G>A (p.(Arg1543His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990542G>A"	""	"likely benign"	""
"0000606074"	"0"	"30"	"2"	"121555049"	"121555049"	"subst"	"0.00058578"	"02330"	"GLI2_000093"	"g.121555049T>C"	""	""	""	"GLI2(NM_005270.4):c.148+5T>C (p.?), GLI2(NM_005270.5):c.148+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120797473T>C"	""	"likely benign"	""
"0000606075"	"0"	"30"	"2"	"121712926"	"121712926"	"subst"	"0.000154612"	"01804"	"GLI2_000094"	"g.121712926C>T"	""	""	""	"GLI2(NM_005270.4):c.563C>T (p.(Ala188Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120955350C>T"	""	"likely benign"	""
"0000606076"	"0"	"10"	"2"	"121712927"	"121712927"	"subst"	"4.884E-5"	"02330"	"GLI2_000095"	"g.121712927G>A"	""	""	""	"GLI2(NM_005270.5):c.564G>A (p.A188=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120955351G>A"	""	"benign"	""
"0000606078"	"0"	"10"	"2"	"121728086"	"121728086"	"subst"	"0.00382144"	"02330"	"GLI2_000047"	"g.121728086C>G"	""	""	""	"GLI2(NM_005270.5):c.963C>G (p.P321=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120970510C>G"	""	"benign"	""
"0000606079"	"0"	"90"	"2"	"121742271"	"121742271"	"dup"	"0"	"02327"	"GLI2_000099"	"g.121742271dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120984695dup"	""	"pathogenic"	""
"0000606080"	"0"	"70"	"2"	"121746952"	"121746952"	"dup"	"0"	"02327"	"GLI2_000101"	"g.121746952dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989376dup"	""	"likely pathogenic"	""
"0000606081"	"0"	"10"	"2"	"121747987"	"121747987"	"subst"	"0.000349451"	"02330"	"GLI2_000103"	"g.121747987T>C"	""	""	""	"GLI2(NM_005270.5):c.4497T>C (p.T1499=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120990411T>C"	""	"benign"	""
"0000620719"	"0"	"50"	"2"	"121726323"	"121726323"	"subst"	"2.84831E-5"	"01943"	"GLI2_000096"	"g.121726323G>A"	""	""	""	"GLI2(NM_001371271.1):c.677G>A (p.R226H), GLI2(NM_005270.4):c.677G>A (p.R226H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120968747G>A"	""	"VUS"	""
"0000620721"	"0"	"10"	"2"	"121743982"	"121743982"	"subst"	"0.000505656"	"02330"	"GLI2_000015"	"g.121743982G>A"	""	""	""	"GLI2(NM_001371271.1):c.2085G>A (p.T695=), GLI2(NM_005270.4):c.2085G>A (p.T695=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986406G>A"	""	"benign"	""
"0000620722"	"0"	"50"	"2"	"121746891"	"121746891"	"subst"	"0"	"02325"	"GLI2_000100"	"g.121746891C>T"	""	""	""	"GLI2(NM_005270.5):c.3401C>T (p.P1134L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989315C>T"	""	"VUS"	""
"0000620723"	"0"	"50"	"2"	"121747112"	"121747112"	"subst"	"0"	"02330"	"GLI2_000102"	"g.121747112C>G"	""	""	""	"GLI2(NM_001371271.1):c.3622C>G (p.R1208G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120989536C>G"	""	"VUS"	""
"0000650093"	"1"	"90"	"2"	"121742248"	"121742248"	"subst"	"6.13698E-5"	"03575"	"GLI2_000104"	"g.121742248G>A"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs387907277}"	"Germline"	""	"rs387907277"	"0"	""	""	"g.120984672G>A"	""	"pathogenic"	""
"0000650094"	"1"	"30"	"2"	"121742307"	"121742307"	"subst"	"0.0236537"	"03575"	"GLI2_000055"	"g.121742307C>T"	"15/2786 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"15 heterozygous; {DB:CLININrs13008360}"	"Germline"	""	"rs13008360"	"0"	""	""	"g.120984731C>T"	""	"likely benign"	""
"0000650095"	"1"	"30"	"2"	"121747433"	"121747433"	"subst"	"0.0163036"	"03575"	"GLI2_000086"	"g.121747433C>T"	"91/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"91 heterozygous, no homozygous; {DB:CLININrs114376238}"	"Germline"	""	"rs114376238"	"0"	""	""	"g.120989857C>T"	""	"likely benign"	""
"0000650096"	"1"	"30"	"2"	"121747823"	"121747823"	"subst"	"0.00986123"	"03575"	"GLI2_000105"	"g.121747823C>T"	"13/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"13 heterozygous, no homozygous; {DB:CLININrs146207623}"	"Germline"	""	"rs146207623"	"0"	""	""	"g.120990247C>T"	""	"likely benign"	""
"0000650097"	"1"	"30"	"2"	"121748048"	"121748048"	"subst"	"0.00936829"	"03575"	"GLI2_000021"	"g.121748048G>A"	"87/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"87 heterozygous; {DB:CLININrs114814747}"	"Germline"	""	"rs114814747"	"0"	""	""	"g.120990472G>A"	""	"likely benign"	""
"0000654184"	"0"	"30"	"2"	"121742042"	"121742042"	"subst"	"2.84988E-5"	"01943"	"GLI2_000106"	"g.121742042C>T"	""	""	""	"GLI2(NM_005270.4):c.1684-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120984466C>T"	""	"likely benign"	""
"0000654185"	"0"	"30"	"2"	"121744037"	"121744037"	"subst"	"0.000166831"	"01943"	"GLI2_000107"	"g.121744037G>A"	""	""	""	"GLI2(NM_005270.4):c.2140G>A (p.A714T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120986461G>A"	""	"likely benign"	""
"0000654186"	"0"	"50"	"2"	"121745981"	"121745983"	"del"	"0"	"01943"	"GLI2_000108"	"g.121745981_121745983del"	""	""	""	"GLI2(NM_001374353.1):c.2440_2442del (p.(Ser832del)), GLI2(NM_005270.4):c.2491_2493delTCC (p.S832del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120988405_120988407del"	""	"VUS"	""
"0000667546"	"1"	"70"	"2"	"121712925"	"121712925"	"del"	"0"	"00006"	"GLI2_000109"	"g.121712925del"	""	"{PMID:Helbig 2016:26795593}"	""	"562delG"	"has VUS in PTCH1"	"Germline"	""	""	"0"	""	""	"g.120955349del"	""	"likely pathogenic"	"ACMG"
"0000669502"	"3"	"30"	"2"	"121742307"	"121742307"	"subst"	"0.0236537"	"03575"	"GLI2_000055"	"g.121742307C>T"	"1/2786 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs13008360}"	"Germline"	""	"rs13008360"	"0"	""	""	"g.120984731C>T"	""	"likely benign"	""
"0000669503"	"3"	"30"	"2"	"121748048"	"121748048"	"subst"	"0.00936829"	"03575"	"GLI2_000021"	"g.121748048G>A"	"1/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs114814747}"	"Germline"	""	"rs114814747"	"0"	""	""	"g.120990472G>A"	""	"likely benign"	""
"0000676000"	"0"	"30"	"2"	"121555049"	"121555049"	"subst"	"0.00058578"	"01943"	"GLI2_000093"	"g.121555049T>C"	""	""	""	"GLI2(NM_005270.4):c.148+5T>C (p.?), GLI2(NM_005270.5):c.148+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676001"	"0"	"50"	"2"	"121712934"	"121712934"	"subst"	"9.36719E-5"	"01943"	"GLI2_000031"	"g.121712934G>A"	""	""	""	"GLI2(NM_005270.4):c.571G>A (p.G191R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000676002"	"0"	"90"	"2"	"121732548"	"121732548"	"subst"	"0"	"01943"	"GLI2_000110"	"g.121732548C>T"	""	""	""	"GLI2(NM_005270.4):c.1231C>T (p.Q411*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000676003"	"0"	"30"	"2"	"121740465"	"121740465"	"subst"	"0"	"01943"	"GLI2_000111"	"g.121740465G>A"	""	""	""	"GLI2(NM_005270.4):c.1683+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676004"	"0"	"50"	"2"	"121745981"	"121745983"	"del"	"0"	"01804"	"GLI2_000108"	"g.121745981_121745983del"	""	""	""	"GLI2(NM_001374353.1):c.2440_2442del (p.(Ser832del)), GLI2(NM_005270.4):c.2491_2493delTCC (p.S832del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000676006"	"0"	"30"	"2"	"121748153"	"121748153"	"subst"	"0.000767862"	"02330"	"GLI2_000023"	"g.121748153T>C"	""	""	""	"GLI2(NM_001371271.1):c.4663T>C (p.S1555P), GLI2(NM_005270.5):c.4663T>C (p.S1555P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688303"	"0"	"30"	"2"	"121555049"	"121555049"	"subst"	"0.00058578"	"01804"	"GLI2_000093"	"g.121555049T>C"	""	""	""	"GLI2(NM_005270.4):c.148+5T>C (p.?), GLI2(NM_005270.5):c.148+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688304"	"0"	"50"	"2"	"121726464"	"121726464"	"subst"	"0"	"02327"	"GLI2_000113"	"g.121726464A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688305"	"0"	"10"	"2"	"121742030"	"121742030"	"subst"	"0.00441583"	"02330"	"GLI2_000114"	"g.121742030C>T"	""	""	""	"GLI2(NM_001371271.1):c.1684-17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000688306"	"0"	"30"	"2"	"121746887"	"121746887"	"subst"	"4.12225E-6"	"02330"	"GLI2_000115"	"g.121746887G>A"	""	""	""	"GLI2(NM_001371271.1):c.3397G>A (p.A1133T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717810"	"0"	"30"	"2"	"121554896"	"121554896"	"subst"	"0.00421049"	"02330"	"GLI2_000116"	"g.121554896G>C"	""	""	""	"GLI2(NM_001371271.1):c.-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717811"	"0"	"30"	"2"	"121708855"	"121708855"	"subst"	"0.00152356"	"01943"	"GLI2_000117"	"g.121708855C>T"	""	""	""	"GLI2(NM_005270.4):c.291C>T (p.D97=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717812"	"0"	"50"	"2"	"121726427"	"121726427"	"subst"	"0"	"02329"	"GLI2_000097"	"g.121726427A>T"	""	""	""	"GLI2(NM_005270.5):c.781A>T (p.N261Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717813"	"0"	"30"	"2"	"121728157"	"121728159"	"dup"	"0"	"01943"	"GLI2_000118"	"g.121728157_121728159dup"	""	""	""	"GLI2(NM_001374353.1):c.1034_1036dup (p.(Ser345dup)), GLI2(NM_005270.4):c.1034_1036dupGCA (p.S345dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717814"	"0"	"50"	"2"	"121736022"	"121736022"	"subst"	"4.06154E-6"	"01804"	"GLI2_000119"	"g.121736022G>A"	""	""	""	"GLI2(NM_005270.4):c.1381G>A (p.(Glu461Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717815"	"0"	"50"	"2"	"121736059"	"121736059"	"subst"	"0.000170581"	"01943"	"GLI2_000120"	"g.121736059G>A"	""	""	""	"GLI2(NM_001374353.1):c.1367G>A (p.(Arg456His)), GLI2(NM_005270.4):c.1418G>A (p.R473H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717816"	"0"	"30"	"2"	"121742248"	"121742248"	"subst"	"6.13698E-5"	"01804"	"GLI2_000104"	"g.121742248G>A"	""	""	""	"GLI2(NM_005270.4):c.1885G>A (p.(Glu629Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717817"	"0"	"50"	"2"	"121746570"	"121746570"	"subst"	"2.00584E-5"	"02329"	"GLI2_000071"	"g.121746570G>A"	""	""	""	"GLI2(NM_005270.5):c.3080G>A (p.R1027Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717818"	"0"	"30"	"2"	"121746848"	"121746848"	"subst"	"0"	"01804"	"GLI2_000121"	"g.121746848T>C"	""	""	""	"GLI2(NM_005270.4):c.3358T>C (p.(Ser1120Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717819"	"0"	"30"	"2"	"121747283"	"121747283"	"subst"	"0"	"01943"	"GLI2_000122"	"g.121747283C>G"	""	""	""	"GLI2(NM_005270.4):c.3793C>G (p.Q1265E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717820"	"0"	"30"	"2"	"121747676"	"121747676"	"subst"	"0.000191393"	"01804"	"GLI2_000123"	"g.121747676G>A"	""	""	""	"GLI2(NM_005270.4):c.4186G>A (p.(Ala1396Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717821"	"0"	"30"	"2"	"121747697"	"121747697"	"subst"	"0.000409135"	"02330"	"GLI2_000124"	"g.121747697A>G"	""	""	""	"GLI2(NM_001371271.1):c.4207A>G (p.M1403V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717822"	"0"	"50"	"2"	"121747897"	"121747897"	"subst"	"0"	"02330"	"GLI2_000125"	"g.121747897G>T"	""	""	""	"GLI2(NM_001371271.1):c.4407G>T (p.M1469I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799645"	"0"	"50"	"2"	"121554927"	"121554927"	"subst"	"8.12427E-6"	"01943"	"GLI2_000126"	"g.121554927G>A"	""	""	""	"GLI2(NM_005270.4):c.31G>A (p.E11K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799646"	"0"	"30"	"2"	"121555049"	"121555049"	"subst"	"0.00058578"	"02325"	"GLI2_000093"	"g.121555049T>C"	""	""	""	"GLI2(NM_005270.4):c.148+5T>C (p.?), GLI2(NM_005270.5):c.148+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799647"	"0"	"10"	"2"	"121685040"	"121685040"	"subst"	"8.52813E-5"	"02330"	"GLI2_000127"	"g.121685040C>T"	""	""	""	"GLI2(NM_001371271.1):c.252C>T (p.H84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000799648"	"0"	"30"	"2"	"121712901"	"121712901"	"subst"	"7.71787E-5"	"01804"	"GLI2_000128"	"g.121712901A>C"	""	""	""	"GLI2(NM_005270.4):c.538A>C (p.(Met180Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799649"	"0"	"30"	"2"	"121729636"	"121729636"	"subst"	"3.26749E-5"	"01943"	"GLI2_000129"	"g.121729636G>A"	""	""	""	"GLI2(NM_005270.4):c.1179G>A (p.T393=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799650"	"0"	"50"	"2"	"121736041"	"121736041"	"subst"	"8.12249E-6"	"01943"	"GLI2_000130"	"g.121736041A>C"	""	""	""	"GLI2(NM_001374353.1):c.1349A>C (p.(Lys467Thr)), GLI2(NM_005270.4):c.1400A>C (p.K467T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799651"	"0"	"10"	"2"	"121742043"	"121742043"	"subst"	"5.6993E-5"	"02330"	"GLI2_000011"	"g.121742043C>G"	""	""	""	"GLI2(NM_001371271.1):c.1684-4C>G, GLI2(NM_005270.4):c.1684-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000799652"	"0"	"10"	"2"	"121742222"	"121742222"	"subst"	"0.00236988"	"02330"	"GLI2_000012"	"g.121742222C>T"	""	""	""	"GLI2(NM_001371271.1):c.1859C>T (p.T620M), GLI2(NM_005270.4):c.1859C>T (p.T620M, p.(Thr620Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000799653"	"0"	"30"	"2"	"121744056"	"121744056"	"subst"	"0.00042702"	"01804"	"GLI2_000057"	"g.121744056G>A"	""	""	""	"GLI2(NM_005270.4):c.2159G>A (p.(Arg720His)), GLI2(NM_005270.5):c.2159G>A (p.R720H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799654"	"0"	"30"	"2"	"121746508"	"121746508"	"subst"	"0.00439"	"02330"	"GLI2_000068"	"g.121746508C>T"	""	""	""	"GLI2(NM_001371271.1):c.3018C>T (p.G1006=), GLI2(NM_005270.4):c.3018C>T (p.G1006=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799655"	"0"	"30"	"2"	"121747113"	"121747113"	"subst"	"0.000220992"	"01804"	"GLI2_000017"	"g.121747113G>A"	""	""	""	"GLI2(NM_005270.4):c.3623G>A (p.R1208H, p.(Arg1208His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799656"	"0"	"30"	"2"	"121747614"	"121747614"	"subst"	"0.000134299"	"01943"	"GLI2_000131"	"g.121747614T>C"	""	""	""	"GLI2(NM_005270.4):c.4124T>C (p.L1375P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848928"	"0"	"50"	"2"	"121685009"	"121685009"	"subst"	"6.09097E-5"	"01943"	"GLI2_000132"	"g.121685009A>G"	""	""	""	"GLI2(NM_005270.4):c.221A>G (p.H74R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848929"	"0"	"30"	"2"	"121708928"	"121708928"	"subst"	"2.84611E-5"	"01943"	"GLI2_000133"	"g.121708928G>A"	""	""	""	"GLI2(NM_005270.4):c.364G>A (p.V122M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848930"	"0"	"30"	"2"	"121712970"	"121712970"	"subst"	"0.000734875"	"02330"	"GLI2_000042"	"g.121712970G>A"	""	""	""	"GLI2(NM_001371271.1):c.607G>A (p.A203T), GLI2(NM_005270.4):c.607G>A (p.A203T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848931"	"0"	"70"	"2"	"121742141"	"121742141"	"subst"	"0"	"02327"	"GLI2_000134"	"g.121742141C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000848932"	"0"	"30"	"2"	"121743955"	"121743955"	"subst"	"4.08627E-6"	"01943"	"GLI2_000136"	"g.121743955G>C"	""	""	""	"GLI2(NM_005270.4):c.2058G>C (p.T686=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848933"	"0"	"30"	"2"	"121743961"	"121743961"	"subst"	"6.12815E-5"	"01943"	"GLI2_000137"	"g.121743961C>T"	""	""	""	"GLI2(NM_005270.4):c.2064C>T (p.P688=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848934"	"0"	"10"	"2"	"121743985"	"121743985"	"subst"	"0.000668607"	"02330"	"GLI2_000056"	"g.121743985A>G"	""	""	""	"GLI2(NM_001371271.1):c.2088A>G (p.A696=), GLI2(NM_005270.4):c.2088A>G (p.A696=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000848935"	"0"	"50"	"2"	"121744026"	"121744026"	"subst"	"8.14186E-6"	"02325"	"GLI2_000138"	"g.121744026C>G"	""	""	""	"GLI2(NM_005270.4):c.2129C>G (p.(Ala710Gly)), GLI2(NM_005270.5):c.2129C>G (p.A710G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848936"	"0"	"30"	"2"	"121747213"	"121747213"	"subst"	"0.00010678"	"01943"	"GLI2_000082"	"g.121747213G>A"	""	""	""	"GLI2(NM_005270.4):c.3723G>A (p.M1241I, p.(Met1241Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857685"	"0"	"50"	"2"	"121736041"	"121736041"	"subst"	"8.12249E-6"	"01804"	"GLI2_000130"	"g.121736041A>C"	""	""	""	"GLI2(NM_001374353.1):c.1349A>C (p.(Lys467Thr)), GLI2(NM_005270.4):c.1400A>C (p.K467T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857686"	"0"	"10"	"2"	"121742326"	"121742326"	"subst"	"0.000122033"	"02330"	"GLI2_000135"	"g.121742326G>A"	""	""	""	"GLI2(NM_001371271.1):c.1956+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857687"	"0"	"50"	"2"	"121745909"	"121745909"	"subst"	"0"	"01943"	"GLI2_000139"	"g.121745909G>A"	""	""	""	"GLI2(NM_005270.4):c.2419G>A (p.D807N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883715"	"0"	"50"	"2"	"121554975"	"121554975"	"subst"	"2.84446E-5"	"02330"	"GLI2_000140"	"g.121554975G>A"	""	""	""	"GLI2(NM_001371271.1):c.79G>A (p.D27N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883716"	"0"	"50"	"2"	"121685008"	"121685008"	"subst"	"0.000101515"	"02330"	"GLI2_000141"	"g.121685008C>T"	""	""	""	"GLI2(NM_001371271.1):c.220C>T (p.H74Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883717"	"0"	"50"	"2"	"121726307"	"121726307"	"subst"	"6.51827E-5"	"01804"	"GLI2_000142"	"g.121726307C>T"	""	""	""	"GLI2(NM_005270.4):c.661C>T (p.(Pro221Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883718"	"0"	"50"	"2"	"121726323"	"121726323"	"subst"	"2.84831E-5"	"02330"	"GLI2_000096"	"g.121726323G>A"	""	""	""	"GLI2(NM_001371271.1):c.677G>A (p.R226H), GLI2(NM_005270.4):c.677G>A (p.R226H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883719"	"0"	"30"	"2"	"121729635"	"121729635"	"subst"	"3.26733E-5"	"02325"	"GLI2_000143"	"g.121729635C>T"	""	""	""	"GLI2(NM_005270.5):c.1178C>T (p.T393M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883720"	"0"	"50"	"2"	"121742059"	"121742059"	"del"	"0"	"02330"	"GLI2_000144"	"g.121742059del"	""	""	""	"GLI2(NM_001371271.1):c.1696delT (p.C566Afs*20)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883721"	"0"	"50"	"2"	"121742111"	"121742111"	"subst"	"0"	"02325"	"GLI2_000145"	"g.121742111A>G"	""	""	""	"GLI2(NM_005270.5):c.1748A>G (p.K583R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883722"	"0"	"30"	"2"	"121747118"	"121747118"	"subst"	"1.66246E-5"	"01804"	"GLI2_000079"	"g.121747118G>A"	""	""	""	"GLI2(NM_005270.4):c.3628G>A (p.G1210R, p.(Gly1210Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883723"	"0"	"90"	"2"	"121747166"	"121747166"	"subst"	"0"	"02325"	"GLI2_000081"	"g.121747166C>T"	""	""	""	"GLI2(NM_005270.5):c.3676C>T (p.R1226*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000883724"	"0"	"10"	"2"	"121747520"	"121747520"	"subst"	"0.000882872"	"02330"	"GLI2_000146"	"g.121747520C>T"	""	""	""	"GLI2(NM_001371271.1):c.4030C>T (p.L1344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000883725"	"0"	"30"	"2"	"121747822"	"121747822"	"subst"	"0.00985877"	"02330"	"GLI2_000020"	"g.121747822G>A"	""	""	""	"GLI2(NM_001371271.1):c.4332G>A (p.M1444I), GLI2(NM_005270.4):c.4332G>A (p.(Met1444Ile), p.M1444I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883726"	"0"	"30"	"2"	"121747823"	"121747823"	"subst"	"0.00986123"	"02330"	"GLI2_000105"	"g.121747823C>T"	""	""	""	"GLI2(NM_001371271.1):c.4333C>T (p.L1445F), GLI2(NM_005270.4):c.4333C>T (p.(Leu1445Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883727"	"0"	"50"	"2"	"121748015"	"121748015"	"subst"	"0"	"02325"	"GLI2_000147"	"g.121748015C>A"	""	""	""	"GLI2(NM_005270.5):c.4525C>A (p.Q1509K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911175"	"0"	"50"	"2"	"121708956"	"121708956"	"subst"	"0.00023972"	"02325"	"GLI2_000002"	"g.121708956G>A"	""	""	""	"GLI2(NM_005270.5):c.392G>A (p.R131H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923282"	"0"	"30"	"2"	"121742222"	"121742222"	"subst"	"0.00236988"	"01804"	"GLI2_000012"	"g.121742222C>T"	""	""	""	"GLI2(NM_001371271.1):c.1859C>T (p.T620M), GLI2(NM_005270.4):c.1859C>T (p.T620M, p.(Thr620Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923283"	"0"	"50"	"2"	"121745906"	"121745906"	"subst"	"0"	"01804"	"GLI2_000148"	"g.121745906C>T"	""	""	""	"GLI2(NM_005270.4):c.2416C>T (p.(Arg806Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928260"	"0"	"50"	"2"	"121740305"	"121740305"	"subst"	"0.000183534"	"01804"	"GLI2_000149"	"g.121740305C>T"	""	""	""	"GLI2(NM_005270.4):c.1532C>T (p.(Ser511Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947339"	"0"	"50"	"2"	"121555016"	"121555018"	"dup"	"0"	"02325"	"GLI2_000150"	"g.121555016_121555018dup"	""	""	""	"GLI2(NM_005270.5):c.120_122dupGGC (p.A44dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947340"	"0"	"50"	"2"	"121728182"	"121728182"	"subst"	"0"	"02330"	"GLI2_000151"	"g.121728182G>C"	""	""	""	"GLI2(NM_001371271.1):c.1059G>C (p.Q353H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947341"	"0"	"50"	"2"	"121746435"	"121746435"	"subst"	"0"	"02325"	"GLI2_000152"	"g.121746435C>T"	""	""	""	"GLI2(NM_005270.5):c.2945C>T (p.P982L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947342"	"0"	"50"	"2"	"121746905"	"121746905"	"subst"	"3.30068E-5"	"02330"	"GLI2_000153"	"g.121746905A>G"	""	""	""	"GLI2(NM_001371271.1):c.3415A>G (p.K1139E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947343"	"0"	"30"	"2"	"121747822"	"121747822"	"subst"	"0.00985877"	"01804"	"GLI2_000020"	"g.121747822G>A"	""	""	""	"GLI2(NM_001371271.1):c.4332G>A (p.M1444I), GLI2(NM_005270.4):c.4332G>A (p.(Met1444Ile), p.M1444I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947344"	"0"	"30"	"2"	"121747823"	"121747823"	"subst"	"0.00986123"	"01804"	"GLI2_000105"	"g.121747823C>T"	""	""	""	"GLI2(NM_001371271.1):c.4333C>T (p.L1445F), GLI2(NM_005270.4):c.4333C>T (p.(Leu1445Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961278"	"0"	"30"	"2"	"121742232"	"121742232"	"subst"	"0.0018991"	"02330"	"GLI2_000154"	"g.121742232C>A"	""	""	""	"GLI2(NM_001371271.1):c.1869C>A (p.G623=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974251"	"0"	"30"	"2"	"121685041"	"121685041"	"subst"	"0.000207113"	"01804"	"GLI2_000155"	"g.121685041G>A"	""	""	""	"GLI2(NM_001374353.1):c.253G>A (p.(Gly85Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974252"	"0"	"30"	"2"	"121691435"	"121691435"	"dup"	"0"	"01804"	"GLI2_000156"	"g.121691435dup"	""	""	""	"GLI2(NM_001374353.1):c.254+6393dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974253"	"0"	"50"	"2"	"121709011"	"121709011"	"subst"	"0"	"01804"	"GLI2_000157"	"g.121709011C>G"	""	""	""	"GLI2(NM_001374353.1):c.447C>G (p.(Ser149Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974254"	"0"	"50"	"2"	"121726427"	"121726427"	"subst"	"0"	"02327"	"GLI2_000097"	"g.121726427A>T"	""	""	""	"GLI2(NM_005270.5):c.781A>T (p.N261Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974255"	"0"	"50"	"2"	"121726437"	"121726437"	"subst"	"0"	"01804"	"GLI2_000158"	"g.121726437G>A"	""	""	""	"GLI2(NM_001374353.1):c.791G>A (p.(Arg264Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974256"	"0"	"50"	"2"	"121728157"	"121728159"	"dup"	"0"	"01804"	"GLI2_000118"	"g.121728157_121728159dup"	""	""	""	"GLI2(NM_001374353.1):c.1034_1036dup (p.(Ser345dup)), GLI2(NM_005270.4):c.1034_1036dupGCA (p.S345dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974257"	"0"	"50"	"2"	"121732606"	"121732606"	"subst"	"0"	"01804"	"GLI2_000159"	"g.121732606C>G"	""	""	""	"GLI2(NM_001374353.1):c.1238C>G (p.(Ala413Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974258"	"0"	"30"	"2"	"121732691"	"121732691"	"del"	"0"	"01804"	"GLI2_000160"	"g.121732691del"	""	""	""	"GLI2(NM_001374353.1):c.1317+6del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974259"	"0"	"50"	"2"	"121736124"	"121736124"	"subst"	"0"	"01804"	"GLI2_000161"	"g.121736124C>T"	""	""	""	"GLI2(NM_001374353.1):c.1432C>T (p.(Arg478Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974260"	"0"	"50"	"2"	"121740385"	"121740385"	"subst"	"1.2186E-5"	"02330"	"GLI2_000162"	"g.121740385G>A"	""	""	""	"GLI2(NM_001371271.1):c.1612G>A (p.E538K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974261"	"0"	"30"	"2"	"121742161"	"121742161"	"subst"	"8.12321E-6"	"01804"	"GLI2_000163"	"g.121742161C>T"	""	""	""	"GLI2(NM_001374353.1):c.1747C>T (p.(Arg583Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974262"	"0"	"30"	"2"	"121746231"	"121746231"	"subst"	"0"	"01804"	"GLI2_000164"	"g.121746231G>A"	""	""	""	"GLI2(NM_001374353.1):c.2690G>A (p.(Arg897Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974263"	"0"	"70"	"2"	"121747079"	"121747080"	"dup"	"0"	"02330"	"GLI2_000165"	"g.121747079_121747080dup"	""	""	""	"GLI2(NM_001371271.1):c.3589_3590dupGG (p.L1198Afs*23)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000991580"	"0"	"50"	"2"	"121712955"	"121712955"	"subst"	"3.68354E-5"	"01804"	"GLI2_000166"	"g.121712955G>A"	""	""	""	"GLI2(NM_005270.4):c.592G>A (p.(Gly198Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991581"	"0"	"30"	"2"	"121728138"	"121728138"	"subst"	"4.0655E-6"	"01804"	"GLI2_000167"	"g.121728138A>T"	""	""	""	"GLI2(NM_005270.4):c.1015A>T (p.(Thr339Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991582"	"0"	"50"	"2"	"121729578"	"121729578"	"subst"	"3.24989E-5"	"01804"	"GLI2_000168"	"g.121729578G>A"	""	""	""	"GLI2(NM_005270.4):c.1121G>A (p.(Arg374His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991583"	"0"	"50"	"2"	"121736059"	"121736059"	"subst"	"0.000170581"	"02327"	"GLI2_000120"	"g.121736059G>A"	""	""	""	"GLI2(NM_001374353.1):c.1367G>A (p.(Arg456His)), GLI2(NM_005270.4):c.1418G>A (p.R473H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991584"	"0"	"50"	"2"	"121736158"	"121736158"	"subst"	"2.85999E-5"	"01804"	"GLI2_000170"	"g.121736158C>T"	""	""	""	"GLI2(NM_005270.4):c.1517C>T (p.(Thr506Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991585"	"0"	"50"	"2"	"121742123"	"121742123"	"subst"	"2.43659E-5"	"01804"	"GLI2_000171"	"g.121742123C>T"	""	""	""	"GLI2(NM_005270.4):c.1760C>T (p.(Thr587Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991586"	"0"	"50"	"2"	"121742143"	"121742143"	"subst"	"8.12196E-6"	"01804"	"GLI2_000172"	"g.121742143C>T"	""	""	""	"GLI2(NM_005270.4):c.1780C>T (p.(His594Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991587"	"0"	"50"	"2"	"121744026"	"121744026"	"subst"	"8.14186E-6"	"01804"	"GLI2_000138"	"g.121744026C>G"	""	""	""	"GLI2(NM_005270.4):c.2129C>G (p.(Ala710Gly)), GLI2(NM_005270.5):c.2129C>G (p.A710G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991588"	"0"	"50"	"2"	"121746051"	"121746051"	"subst"	"6.06244E-6"	"01804"	"GLI2_000173"	"g.121746051C>A"	""	""	""	"GLI2(NM_005270.4):c.2561C>A (p.(Ser854Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991589"	"0"	"50"	"2"	"121746485"	"121746485"	"subst"	"0"	"01804"	"GLI2_000174"	"g.121746485C>T"	""	""	""	"GLI2(NM_005270.4):c.2995C>T (p.(Pro999Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991590"	"0"	"30"	"2"	"121746834"	"121746834"	"subst"	"3.27539E-5"	"01804"	"GLI2_000175"	"g.121746834C>T"	""	""	""	"GLI2(NM_005270.4):c.3344C>T (p.(Ser1115Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991591"	"0"	"30"	"2"	"121747358"	"121747358"	"subst"	"4.13531E-6"	"01804"	"GLI2_000176"	"g.121747358C>T"	""	""	""	"GLI2(NM_005270.4):c.3868C>T (p.(Pro1290Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991592"	"0"	"30"	"2"	"121747650"	"121747650"	"subst"	"1.29453E-5"	"01804"	"GLI2_000177"	"g.121747650G>A"	""	""	""	"GLI2(NM_005270.4):c.4160G>A (p.(Arg1387His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001007039"	"0"	"70"	"2"	"121736146"	"121736146"	"subst"	"0"	"03544"	"GLI2_000169"	"g.121736146C>A"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.120978570C>A"	""	"likely pathogenic"	"ACMG"
"0001032341"	"0"	"30"	"2"	"121494402"	"121494402"	"subst"	"0"	"01804"	"GLI2_000178"	"g.121494402C>T"	""	""	""	"GLI2(NM_001374353.1):c.-31+541C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032342"	"0"	"30"	"2"	"121555015"	"121555015"	"subst"	"2.84759E-5"	"01804"	"GLI2_000179"	"g.121555015C>T"	""	""	""	"GLI2(NM_001374353.1):c.119C>T (p.(Ala40Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032343"	"0"	"30"	"2"	"121708885"	"121708885"	"subst"	"0.00330595"	"01804"	"GLI2_000038"	"g.121708885G>A"	""	""	""	"GLI2(NM_001374353.1):c.321G>A (p.(Pro107=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032344"	"0"	"50"	"2"	"121732691"	"121732691"	"subst"	"6.50957E-5"	"01804"	"GLI2_000180"	"g.121732691C>G"	""	""	""	"GLI2(NM_001374353.1):c.1317+6C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032345"	"0"	"30"	"2"	"121736059"	"121736059"	"subst"	"0.000170581"	"01804"	"GLI2_000120"	"g.121736059G>A"	""	""	""	"GLI2(NM_001374353.1):c.1367G>A (p.(Arg456His)), GLI2(NM_005270.4):c.1418G>A (p.R473H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032346"	"0"	"30"	"2"	"121736074"	"121736074"	"subst"	"8.12367E-6"	"01804"	"GLI2_000181"	"g.121736074C>T"	""	""	""	"GLI2(NM_001374353.1):c.1382C>T (p.(Thr461Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032347"	"0"	"30"	"2"	"121744138"	"121744138"	"subst"	"4.08547E-6"	"01804"	"GLI2_000182"	"g.121744138C>T"	""	""	""	"GLI2(NM_001374353.1):c.2190C>T (p.(Ala730=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032348"	"0"	"30"	"2"	"121745999"	"121745999"	"subst"	"6.26449E-5"	"01804"	"GLI2_000183"	"g.121745999G>A"	""	""	""	"GLI2(NM_001374353.1):c.2458G>A (p.(Glu820Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001048184"	"0"	"10"	"2"	"121747822"	"121747822"	"subst"	"0.00985877"	"00006"	"GLI2_000020"	"g.121747822G>A"	""	"{PMID:Plachy 2019:30753492}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.120990246G>A"	""	"benign"	""
"0001048196"	"0"	"10"	"2"	"121747823"	"121747823"	"subst"	"0.00986123"	"00006"	"GLI2_000105"	"g.121747823C>T"	""	"{PMID:Plachy 2019:30753492}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.120990247C>T"	""	"benign"	""
"0001050776"	"0"	"50"	"2"	"121554980"	"121554980"	"subst"	"5.28258E-5"	"01804"	"GLI2_000184"	"g.121554980G>A"	""	""	""	"GLI2(NM_001374353.1):c.84G>A (p.(Pro28=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050777"	"0"	"30"	"2"	"121708868"	"121708868"	"subst"	"1.62566E-5"	"01804"	"GLI2_000185"	"g.121708868C>T"	""	""	""	"GLI2(NM_001374353.1):c.304C>T (p.(Arg102Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001050778"	"0"	"50"	"2"	"121712820"	"121712820"	"subst"	"0"	"01804"	"GLI2_000186"	"g.121712820G>C"	""	""	""	"GLI2(NM_001374353.1):c.458-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050779"	"0"	"50"	"2"	"121736124"	"121736124"	"subst"	"0"	"01804"	"GLI2_000187"	"g.121736124C>G"	""	""	""	"GLI2(NM_001374353.1):c.1432C>G (p.(Arg478Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050780"	"0"	"30"	"2"	"121746207"	"121746207"	"subst"	"0"	"01804"	"GLI2_000188"	"g.121746207C>T"	""	""	""	"GLI2(NM_001374353.1):c.2666C>T (p.(Pro889Leu))"	"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 GLI2
## Count = 237
"{{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}}"	"{{VariantOnTranscript/Variant/Type}}"
"0000011706"	"00001203"	"50"	"148"	"4297"	"148"	"4297"	"c.148+4297T>C"	"r.(=)"	"p.(=)"	""	""
"0000079642"	"00001203"	"00"	"392"	"0"	"392"	"0"	"c.392G>A"	"r.(?)"	"p.(Arg131His)"	""	""
"0000248493"	"00001203"	"10"	"3939"	"0"	"3939"	"0"	"c.3939A>G"	"r.(?)"	"p.(Pro1313=)"	""	""
"0000249503"	"00001203"	"30"	"1518"	"19"	"1518"	"19"	"c.1518+19A>C"	"r.(=)"	"p.(=)"	""	""
"0000277322"	"00001203"	"30"	"4558"	"0"	"4558"	"0"	"c.4558G>A"	"r.(?)"	"p.(Asp1520Asn)"	""	""
"0000277323"	"00001203"	"10"	"720"	"0"	"720"	"0"	"c.720C>T"	"r.(?)"	"p.(Asp240=)"	""	""
"0000281068"	"00001203"	"30"	"1518"	"14"	"1518"	"14"	"c.1518+14T>C"	"r.(=)"	"p.(=)"	""	""
"0000281069"	"00001203"	"10"	"3466"	"0"	"3466"	"0"	"c.3466G>T"	"r.(?)"	"p.(Ala1156Ser)"	""	""
"0000281070"	"00001203"	"10"	"4558"	"0"	"4558"	"0"	"c.4558G>A"	"r.(?)"	"p.(Asp1520Asn)"	""	""
"0000281071"	"00001203"	"30"	"4663"	"0"	"4663"	"0"	"c.4663T>C"	"r.(?)"	"p.(Ser1555Pro)"	""	""
"0000281072"	"00001203"	"10"	"643"	"16"	"643"	"16"	"c.643+16C>G"	"r.(=)"	"p.(=)"	""	""
"0000281073"	"00001203"	"10"	"801"	"0"	"801"	"0"	"c.801G>A"	"r.(?)"	"p.(Ser267=)"	""	""
"0000283375"	"00001203"	"50"	"1933"	"0"	"1933"	"0"	"c.1933G>A"	"r.(?)"	"p.(Ala645Thr)"	""	""
"0000284703"	"00001203"	"30"	"2085"	"0"	"2085"	"0"	"c.2085G>A"	"r.(?)"	"p.(Thr695=)"	""	""
"0000284704"	"00001203"	"30"	"391"	"0"	"391"	"0"	"c.391C>T"	"r.(?)"	"p.(Arg131Cys)"	""	""
"0000284705"	"00001203"	"30"	"4332"	"0"	"4332"	"0"	"c.4332G>A"	"r.(?)"	"p.(Met1444Ile)"	""	""
"0000284706"	"00001203"	"30"	"4558"	"0"	"4558"	"0"	"c.4558G>A"	"r.(?)"	"p.(Asp1520Asn)"	""	""
"0000288414"	"00001203"	"30"	"1083"	"0"	"1083"	"0"	"c.1083C>T"	"r.(?)"	"p.(Ala361=)"	""	""
"0000288415"	"00001203"	"50"	"1518"	"0"	"1518"	"0"	"c.1518G>A"	"r.(?)"	"p.(Thr506=)"	""	""
"0000288416"	"00001203"	"30"	"1684"	"-4"	"1684"	"-4"	"c.1684-4C>G"	"r.spl?"	"p.?"	""	""
"0000288417"	"00001203"	"10"	"1859"	"0"	"1859"	"0"	"c.1859C>T"	"r.(?)"	"p.(Thr620Met)"	""	""
"0000288418"	"00001203"	"30"	"1986"	"0"	"1986"	"0"	"c.1986G>A"	"r.(?)"	"p.(Ser662=)"	""	""
"0000288419"	"00001203"	"30"	"3623"	"0"	"3623"	"0"	"c.3623G>A"	"r.(?)"	"p.(Arg1208His)"	""	""
"0000288420"	"00001203"	"30"	"4081"	"0"	"4081"	"0"	"c.4081G>T"	"r.(?)"	"p.(Val1361Leu)"	""	""
"0000288421"	"00001203"	"30"	"4221"	"0"	"4221"	"0"	"c.4221G>A"	"r.(?)"	"p.(Pro1407=)"	""	""
"0000288422"	"00001203"	"50"	"4631"	"0"	"4631"	"0"	"c.4631T>C"	"r.(?)"	"p.(Leu1544Pro)"	""	""
"0000288423"	"00001203"	"10"	"720"	"0"	"720"	"0"	"c.720C>T"	"r.(?)"	"p.(Asp240=)"	""	""
"0000339034"	"00001203"	"50"	"1799"	"0"	"1799"	"0"	"c.1799G>A"	"r.(?)"	"p.(Arg600His)"	""	""
"0000342269"	"00001203"	"50"	"650"	"0"	"650"	"0"	"c.650G>A"	"r.(?)"	"p.(Arg217His)"	""	""
"0000343240"	"00001203"	"90"	"199"	"0"	"199"	"0"	"c.199C>T"	"r.(?)"	"p.(Arg67Ter)"	""	""
"0000343930"	"00001203"	"50"	"454"	"0"	"454"	"0"	"c.454G>A"	"r.(?)"	"p.(Asp152Asn)"	""	""
"0000345161"	"00001203"	"50"	"4729"	"0"	"4729"	"0"	"c.4729G>A"	"r.(?)"	"p.(Glu1577Lys)"	""	""
"0000348291"	"00001203"	"70"	"662"	"0"	"662"	"0"	"c.662C>T"	"r.(?)"	"p.(Pro221Leu)"	""	""
"0000406023"	"00001203"	"30"	"571"	"0"	"571"	"0"	"c.571G>A"	"r.(?)"	"p.(Gly191Arg)"	""	"substitution"
"0000509044"	"00001203"	"10"	"-7"	"0"	"-7"	"0"	"c.-7G>A"	"r.(?)"	"p.(=)"	""	""
"0000509045"	"00001203"	"10"	"-7"	"0"	"-7"	"0"	"c.-7G>A"	"r.(?)"	"p.(=)"	""	""
"0000509046"	"00001203"	"30"	"30"	"0"	"30"	"0"	"c.30C>T"	"r.(?)"	"p.(Ser10=)"	""	""
"0000509047"	"00001203"	"30"	"67"	"0"	"67"	"0"	"c.67G>A"	"r.(?)"	"p.(Ala23Thr)"	""	""
"0000509048"	"00001203"	"10"	"254"	"66"	"254"	"66"	"c.254+66C>T"	"r.(=)"	"p.(=)"	""	""
"0000509049"	"00001203"	"10"	"255"	"-17"	"255"	"-17"	"c.255-17G>T"	"r.(=)"	"p.(=)"	""	""
"0000509051"	"00001203"	"50"	"321"	"0"	"321"	"0"	"c.321G>A"	"r.(?)"	"p.(Pro107=)"	""	""
"0000509052"	"00001203"	"10"	"342"	"0"	"342"	"0"	"c.342C>T"	"r.(?)"	"p.(Pro114=)"	""	""
"0000509053"	"00001203"	"70"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Ala117Thr)"	""	""
"0000509054"	"00001203"	"30"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Ala200Thr)"	""	""
"0000509055"	"00001203"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Ala200Thr)"	""	""
"0000509056"	"00001203"	"30"	"607"	"0"	"607"	"0"	"c.607G>A"	"r.(?)"	"p.(Ala203Thr)"	""	""
"0000509057"	"00001203"	"10"	"643"	"16"	"643"	"16"	"c.643+16C>G"	"r.(=)"	"p.(=)"	""	""
"0000509058"	"00001203"	"50"	"695"	"0"	"695"	"0"	"c.695C>T"	"r.(?)"	"p.(Ala232Val)"	""	""
"0000509059"	"00001203"	"30"	"696"	"0"	"696"	"0"	"c.696G>A"	"r.(?)"	"p.(Ala232=)"	""	""
"0000509060"	"00001203"	"30"	"740"	"0"	"740"	"0"	"c.740G>A"	"r.(?)"	"p.(Arg247Gln)"	""	""
"0000509061"	"00001203"	"10"	"801"	"0"	"801"	"0"	"c.801G>A"	"r.(?)"	"p.(Ser267=)"	""	""
"0000509062"	"00001203"	"10"	"845"	"10"	"845"	"10"	"c.845+10G>A"	"r.(=)"	"p.(=)"	""	""
"0000509063"	"00001203"	"10"	"963"	"0"	"963"	"0"	"c.963C>G"	"r.(?)"	"p.(Pro321=)"	""	""
"0000509064"	"00001203"	"30"	"1311"	"0"	"1311"	"0"	"c.1311C>A"	"r.(?)"	"p.(Thr437=)"	""	""
"0000509065"	"00001203"	"10"	"1311"	"0"	"1311"	"0"	"c.1311C>T"	"r.(?)"	"p.(Thr437=)"	""	""
"0000509067"	"00001203"	"30"	"1428"	"0"	"1428"	"0"	"c.1428C>T"	"r.(?)"	"p.(Ala476=)"	""	""
"0000509068"	"00001203"	"30"	"1684"	"-4"	"1684"	"-4"	"c.1684-4C>G"	"r.spl?"	"p.?"	""	""
"0000509069"	"00001203"	"50"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582Gln)"	""	""
"0000509070"	"00001203"	"10"	"1761"	"0"	"1761"	"0"	"c.1761G>A"	"r.(?)"	"p.(Thr587=)"	""	""
"0000509072"	"00001203"	"10"	"1944"	"0"	"1944"	"0"	"c.1944C>T"	"r.(?)"	"p.(Thr648=)"	""	""
"0000509073"	"00001203"	"10"	"1986"	"0"	"1986"	"0"	"c.1986G>A"	"r.(?)"	"p.(Ser662=)"	""	""
"0000509074"	"00001203"	"30"	"2085"	"0"	"2085"	"0"	"c.2085G>A"	"r.(?)"	"p.(Thr695=)"	""	""
"0000509075"	"00001203"	"30"	"2088"	"0"	"2088"	"0"	"c.2088A>G"	"r.(?)"	"p.(Ala696=)"	""	""
"0000509076"	"00001203"	"10"	"2088"	"0"	"2088"	"0"	"c.2088A>G"	"r.(?)"	"p.(Ala696=)"	""	""
"0000509077"	"00001203"	"30"	"2159"	"0"	"2159"	"0"	"c.2159G>A"	"r.(?)"	"p.(Arg720His)"	""	""
"0000509079"	"00001203"	"30"	"2187"	"0"	"2187"	"0"	"c.2187C>A"	"r.(?)"	"p.(Phe729Leu)"	""	""
"0000509080"	"00001203"	"30"	"2260"	"0"	"2260"	"0"	"c.2260C>A"	"r.(?)"	"p.(Arg754=)"	""	""
"0000509081"	"00001203"	"30"	"2265"	"0"	"2265"	"0"	"c.2265C>G"	"r.(?)"	"p.(Asn755Lys)"	""	""
"0000509082"	"00001203"	"30"	"2488"	"0"	"2488"	"0"	"c.2488T>C"	"r.(?)"	"p.(Phe830Leu)"	""	""
"0000509083"	"00001203"	"50"	"2492"	"0"	"2492"	"0"	"c.2492C>T"	"r.(?)"	"p.(Ser831Phe)"	""	""
"0000509084"	"00001203"	"50"	"2680"	"0"	"2680"	"0"	"c.2680G>C"	"r.(?)"	"p.(Ala894Pro)"	""	""
"0000509086"	"00001203"	"10"	"2940"	"0"	"2940"	"0"	"c.2940C>T"	"r.(?)"	"p.(Ser980=)"	""	""
"0000509088"	"00001203"	"30"	"3018"	"0"	"3018"	"0"	"c.3018C>T"	"r.(?)"	"p.(Gly1006=)"	""	""
"0000509089"	"00001203"	"30"	"3038"	"0"	"3038"	"0"	"c.3038C>G"	"r.(?)"	"p.(Pro1013Arg)"	""	""
"0000509090"	"00001203"	"10"	"3048"	"0"	"3048"	"0"	"c.3048C>T"	"r.(?)"	"p.(Asp1016=)"	""	""
"0000509092"	"00001203"	"30"	"3283"	"0"	"3283"	"0"	"c.3283G>C"	"r.(?)"	"p.(Asp1095His)"	""	""
"0000509093"	"00001203"	"30"	"3357"	"0"	"3357"	"0"	"c.3357C>T"	"r.(?)"	"p.(Pro1119=)"	""	""
"0000509094"	"00001203"	"30"	"3460"	"0"	"3460"	"0"	"c.3460G>A"	"r.(?)"	"p.(Val1154Ile)"	""	""
"0000509096"	"00001203"	"10"	"3466"	"0"	"3466"	"0"	"c.3466G>T"	"r.(?)"	"p.(Ala1156Ser)"	""	""
"0000509097"	"00001203"	"10"	"3466"	"0"	"3466"	"0"	"c.3466G>T"	"r.(?)"	"p.(Ala1156Ser)"	""	""
"0000509098"	"00001203"	"90"	"3502"	"0"	"3502"	"0"	"c.3502C>T"	"r.(?)"	"p.(Gln1168Ter)"	""	""
"0000509099"	"00001203"	"30"	"3528"	"0"	"3528"	"0"	"c.3528G>T"	"r.(?)"	"p.(Gln1176His)"	""	""
"0000509100"	"00001203"	"10"	"3590"	"0"	"3590"	"0"	"c.3590G>A"	"r.(?)"	"p.(Gly1197Asp)"	""	""
"0000509101"	"00001203"	"30"	"3628"	"0"	"3628"	"0"	"c.3628G>A"	"r.(?)"	"p.(Gly1210Arg)"	""	""
"0000509103"	"00001203"	"70"	"3676"	"0"	"3676"	"0"	"c.3676C>T"	"r.(?)"	"p.(Arg1226Ter)"	""	""
"0000509104"	"00001203"	"30"	"3723"	"0"	"3723"	"0"	"c.3723G>A"	"r.(?)"	"p.(Met1241Ile)"	""	""
"0000509105"	"00001203"	"30"	"3725"	"0"	"3725"	"0"	"c.3725G>A"	"r.(?)"	"p.(Ser1242Asn)"	""	""
"0000509106"	"00001203"	"10"	"3882"	"0"	"3882"	"0"	"c.3882G>A"	"r.(?)"	"p.(Thr1294=)"	""	""
"0000509107"	"00001203"	"10"	"3916"	"0"	"3916"	"0"	"c.3916G>A"	"r.(?)"	"p.(Asp1306Asn)"	""	""
"0000509108"	"00001203"	"10"	"3916"	"0"	"3916"	"0"	"c.3916G>A"	"r.(?)"	"p.(Asp1306Asn)"	""	""
"0000509109"	"00001203"	"10"	"3939"	"0"	"3939"	"0"	"c.3939A>G"	"r.(?)"	"p.(Pro1313=)"	""	""
"0000509110"	"00001203"	"30"	"3943"	"0"	"3943"	"0"	"c.3943C>T"	"r.(?)"	"p.(Pro1315Ser)"	""	""
"0000509112"	"00001203"	"30"	"4054"	"0"	"4054"	"0"	"c.4054A>G"	"r.(?)"	"p.(Met1352Val)"	""	""
"0000509113"	"00001203"	"30"	"4054"	"0"	"4054"	"0"	"c.4054A>G"	"r.(?)"	"p.(Met1352Val)"	""	""
"0000509114"	"00001203"	"10"	"4054"	"0"	"4054"	"0"	"c.4054A>G"	"r.(?)"	"p.(Met1352Val)"	""	""
"0000509115"	"00001203"	"30"	"4081"	"0"	"4081"	"0"	"c.4081G>T"	"r.(?)"	"p.(Val1361Leu)"	""	""
"0000509116"	"00001203"	"50"	"4097"	"0"	"4097"	"0"	"c.4097T>C"	"r.(?)"	"p.(Phe1366Ser)"	""	""
"0000509117"	"00001203"	"30"	"4145"	"0"	"4145"	"0"	"c.4145G>A"	"r.(?)"	"p.(Arg1382His)"	""	""
"0000509118"	"00001203"	"30"	"4145"	"0"	"4145"	"0"	"c.4145G>A"	"r.(?)"	"p.(Arg1382His)"	""	""
"0000509120"	"00001203"	"30"	"4558"	"0"	"4558"	"0"	"c.4558G>A"	"r.(?)"	"p.(Asp1520Asn)"	""	""
"0000509121"	"00001203"	"70"	"4560"	"0"	"4560"	"0"	"c.4560T>G"	"r.(?)"	"p.(Asp1520Glu)"	""	""
"0000509123"	"00001203"	"30"	"4628"	"0"	"4628"	"0"	"c.4628G>A"	"r.(?)"	"p.(Arg1543His)"	""	""
"0000606074"	"00001203"	"30"	"148"	"5"	"148"	"5"	"c.148+5T>C"	"r.spl?"	"p.?"	""	""
"0000606075"	"00001203"	"30"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.(?)"	"p.(Ala188Val)"	""	""
"0000606076"	"00001203"	"10"	"564"	"0"	"564"	"0"	"c.564G>A"	"r.(?)"	"p.(Ala188=)"	""	""
"0000606078"	"00001203"	"10"	"963"	"0"	"963"	"0"	"c.963C>G"	"r.(?)"	"p.(Pro321=)"	""	""
"0000606079"	"00001203"	"90"	"1908"	"0"	"1908"	"0"	"c.1908dup"	"r.(?)"	"p.(Val637ArgfsTer42)"	""	""
"0000606080"	"00001203"	"70"	"3462"	"0"	"3462"	"0"	"c.3462dup"	"r.(?)"	"p.(Asp1155ArgfsTer40)"	""	""
"0000606081"	"00001203"	"10"	"4497"	"0"	"4497"	"0"	"c.4497T>C"	"r.(?)"	"p.(Thr1499=)"	""	""
"0000620719"	"00001203"	"50"	"677"	"0"	"677"	"0"	"c.677G>A"	"r.(?)"	"p.(Arg226His)"	""	""
"0000620721"	"00001203"	"10"	"2085"	"0"	"2085"	"0"	"c.2085G>A"	"r.(?)"	"p.(Thr695=)"	""	""
"0000620722"	"00001203"	"50"	"3401"	"0"	"3401"	"0"	"c.3401C>T"	"r.(?)"	"p.(Pro1134Leu)"	""	""
"0000620723"	"00001203"	"50"	"3622"	"0"	"3622"	"0"	"c.3622C>G"	"r.(?)"	"p.(Arg1208Gly)"	""	""
"0000650093"	"00001203"	"90"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.(Glu629Lys)"	""	""
"0000650094"	"00001203"	"30"	"1944"	"0"	"1944"	"0"	"c.1944C>T"	"r.(=)"	"p.(=)"	""	""
"0000650095"	"00001203"	"30"	"3943"	"0"	"3943"	"0"	"c.3943C>T"	"r.(?)"	"p.(Pro1315Ser)"	""	""
"0000650096"	"00001203"	"30"	"4333"	"0"	"4333"	"0"	"c.4333C>T"	"r.(?)"	"p.(Leu1445Phe)"	""	""
"0000650097"	"00001203"	"30"	"4558"	"0"	"4558"	"0"	"c.4558G>A"	"r.(?)"	"p.(Asp1520Asn)"	""	""
"0000654184"	"00001203"	"30"	"1684"	"-5"	"1684"	"-5"	"c.1684-5C>T"	"r.spl?"	"p.?"	""	""
"0000654185"	"00001203"	"30"	"2140"	"0"	"2140"	"0"	"c.2140G>A"	"r.(?)"	"p.(Ala714Thr)"	""	""
"0000654186"	"00001203"	"50"	"2491"	"0"	"2493"	"0"	"c.2491_2493del"	"r.(?)"	"p.(Ser832del)"	""	""
"0000667546"	"00001203"	"70"	"562"	"0"	"562"	"0"	"c.562del"	"r.(?)"	"p.(Ala188Argfs*7)"	""	""
"0000669502"	"00001203"	"30"	"1944"	"0"	"1944"	"0"	"c.1944C>T"	"r.(=)"	"p.(=)"	""	""
"0000669503"	"00001203"	"30"	"4558"	"0"	"4558"	"0"	"c.4558G>A"	"r.(?)"	"p.(Asp1520Asn)"	""	""
"0000676000"	"00001203"	"30"	"148"	"5"	"148"	"5"	"c.148+5T>C"	"r.spl?"	"p.?"	""	""
"0000676001"	"00001203"	"50"	"571"	"0"	"571"	"0"	"c.571G>A"	"r.(?)"	"p.(Gly191Arg)"	""	""
"0000676002"	"00001203"	"90"	"1231"	"0"	"1231"	"0"	"c.1231C>T"	"r.(?)"	"p.(Gln411Ter)"	""	""
"0000676003"	"00001203"	"30"	"1683"	"9"	"1683"	"9"	"c.1683+9G>A"	"r.(=)"	"p.(=)"	""	""
"0000676004"	"00001203"	"50"	"2491"	"0"	"2493"	"0"	"c.2491_2493del"	"r.(?)"	"p.(Ser832del)"	""	""
"0000676006"	"00001203"	"30"	"4663"	"0"	"4663"	"0"	"c.4663T>C"	"r.(?)"	"p.(Ser1555Pro)"	""	""
"0000688303"	"00001203"	"30"	"148"	"5"	"148"	"5"	"c.148+5T>C"	"r.spl?"	"p.?"	""	""
"0000688304"	"00001203"	"50"	"818"	"0"	"818"	"0"	"c.818A>T"	"r.(?)"	"p.(Tyr273Phe)"	""	""
"0000688305"	"00001203"	"10"	"1684"	"-17"	"1684"	"-17"	"c.1684-17C>T"	"r.(=)"	"p.(=)"	""	""
"0000688306"	"00001203"	"30"	"3397"	"0"	"3397"	"0"	"c.3397G>A"	"r.(?)"	"p.(Ala1133Thr)"	""	""
"0000717810"	"00001203"	"30"	"-1"	"0"	"-1"	"0"	"c.-1G>C"	"r.(?)"	"p.(=)"	""	""
"0000717811"	"00001203"	"30"	"291"	"0"	"291"	"0"	"c.291C>T"	"r.(?)"	"p.(Asp97=)"	""	""
"0000717812"	"00001203"	"50"	"781"	"0"	"781"	"0"	"c.781A>T"	"r.(?)"	"p.(Asn261Tyr)"	""	""
"0000717813"	"00001203"	"30"	"1034"	"0"	"1036"	"0"	"c.1034_1036dup"	"r.(?)"	"p.(Ser345dup)"	""	""
"0000717814"	"00001203"	"50"	"1381"	"0"	"1381"	"0"	"c.1381G>A"	"r.(?)"	"p.(Glu461Lys)"	""	""
"0000717815"	"00001203"	"50"	"1418"	"0"	"1418"	"0"	"c.1418G>A"	"r.(?)"	"p.(Arg473His)"	""	""
"0000717816"	"00001203"	"30"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.(Glu629Lys)"	""	""
"0000717817"	"00001203"	"50"	"3080"	"0"	"3080"	"0"	"c.3080G>A"	"r.(?)"	"p.(Arg1027Gln)"	""	""
"0000717818"	"00001203"	"30"	"3358"	"0"	"3358"	"0"	"c.3358T>C"	"r.(?)"	"p.(Ser1120Pro)"	""	""
"0000717819"	"00001203"	"30"	"3793"	"0"	"3793"	"0"	"c.3793C>G"	"r.(?)"	"p.(Gln1265Glu)"	""	""
"0000717820"	"00001203"	"30"	"4186"	"0"	"4186"	"0"	"c.4186G>A"	"r.(?)"	"p.(Ala1396Thr)"	""	""
"0000717821"	"00001203"	"30"	"4207"	"0"	"4207"	"0"	"c.4207A>G"	"r.(?)"	"p.(Met1403Val)"	""	""
"0000717822"	"00001203"	"50"	"4407"	"0"	"4407"	"0"	"c.4407G>T"	"r.(?)"	"p.(Met1469Ile)"	""	""
"0000799645"	"00001203"	"50"	"31"	"0"	"31"	"0"	"c.31G>A"	"r.(?)"	"p.(Glu11Lys)"	""	""
"0000799646"	"00001203"	"30"	"148"	"5"	"148"	"5"	"c.148+5T>C"	"r.spl?"	"p.?"	""	""
"0000799647"	"00001203"	"10"	"252"	"0"	"252"	"0"	"c.252C>T"	"r.(?)"	"p.(His84=)"	""	""
"0000799648"	"00001203"	"30"	"538"	"0"	"538"	"0"	"c.538A>C"	"r.(?)"	"p.(Met180Leu)"	""	""
"0000799649"	"00001203"	"30"	"1179"	"0"	"1179"	"0"	"c.1179G>A"	"r.(?)"	"p.(Thr393=)"	""	""
"0000799650"	"00001203"	"50"	"1400"	"0"	"1400"	"0"	"c.1400A>C"	"r.(?)"	"p.(Lys467Thr)"	""	""
"0000799651"	"00001203"	"10"	"1684"	"-4"	"1684"	"-4"	"c.1684-4C>G"	"r.spl?"	"p.?"	""	""
"0000799652"	"00001203"	"10"	"1859"	"0"	"1859"	"0"	"c.1859C>T"	"r.(?)"	"p.(Thr620Met)"	""	""
"0000799653"	"00001203"	"30"	"2159"	"0"	"2159"	"0"	"c.2159G>A"	"r.(?)"	"p.(Arg720His)"	""	""
"0000799654"	"00001203"	"30"	"3018"	"0"	"3018"	"0"	"c.3018C>T"	"r.(?)"	"p.(Gly1006=)"	""	""
"0000799655"	"00001203"	"30"	"3623"	"0"	"3623"	"0"	"c.3623G>A"	"r.(?)"	"p.(Arg1208His)"	""	""
"0000799656"	"00001203"	"30"	"4124"	"0"	"4124"	"0"	"c.4124T>C"	"r.(?)"	"p.(Leu1375Pro)"	""	""
"0000848928"	"00001203"	"50"	"221"	"0"	"221"	"0"	"c.221A>G"	"r.(?)"	"p.(His74Arg)"	""	""
"0000848929"	"00001203"	"30"	"364"	"0"	"364"	"0"	"c.364G>A"	"r.(?)"	"p.(Val122Met)"	""	""
"0000848930"	"00001203"	"30"	"607"	"0"	"607"	"0"	"c.607G>A"	"r.(?)"	"p.(Ala203Thr)"	""	""
"0000848931"	"00001203"	"70"	"1778"	"0"	"1778"	"0"	"c.1778C>T"	"r.(?)"	"p.(Ala593Val)"	""	""
"0000848932"	"00001203"	"30"	"2058"	"0"	"2058"	"0"	"c.2058G>C"	"r.(?)"	"p.(Thr686=)"	""	""
"0000848933"	"00001203"	"30"	"2064"	"0"	"2064"	"0"	"c.2064C>T"	"r.(?)"	"p.(Pro688=)"	""	""
"0000848934"	"00001203"	"10"	"2088"	"0"	"2088"	"0"	"c.2088A>G"	"r.(?)"	"p.(Ala696=)"	""	""
"0000848935"	"00001203"	"50"	"2129"	"0"	"2129"	"0"	"c.2129C>G"	"r.(?)"	"p.(Ala710Gly)"	""	""
"0000848936"	"00001203"	"30"	"3723"	"0"	"3723"	"0"	"c.3723G>A"	"r.(?)"	"p.(Met1241Ile)"	""	""
"0000857685"	"00001203"	"50"	"1400"	"0"	"1400"	"0"	"c.1400A>C"	"r.(?)"	"p.(Lys467Thr)"	""	""
"0000857686"	"00001203"	"10"	"1956"	"7"	"1956"	"7"	"c.1956+7G>A"	"r.(=)"	"p.(=)"	""	""
"0000857687"	"00001203"	"50"	"2419"	"0"	"2419"	"0"	"c.2419G>A"	"r.(?)"	"p.(Asp807Asn)"	""	""
"0000883715"	"00001203"	"50"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Asp27Asn)"	""	""
"0000883716"	"00001203"	"50"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(His74Tyr)"	""	""
"0000883717"	"00001203"	"50"	"661"	"0"	"661"	"0"	"c.661C>T"	"r.(?)"	"p.(Pro221Ser)"	""	""
"0000883718"	"00001203"	"50"	"677"	"0"	"677"	"0"	"c.677G>A"	"r.(?)"	"p.(Arg226His)"	""	""
"0000883719"	"00001203"	"30"	"1178"	"0"	"1178"	"0"	"c.1178C>T"	"r.(?)"	"p.(Thr393Met)"	""	""
"0000883720"	"00001203"	"50"	"1696"	"0"	"1696"	"0"	"c.1696del"	"r.(?)"	"p.(Cys566Alafs*20)"	""	""
"0000883721"	"00001203"	"50"	"1748"	"0"	"1748"	"0"	"c.1748A>G"	"r.(?)"	"p.(Lys583Arg)"	""	""
"0000883722"	"00001203"	"30"	"3628"	"0"	"3628"	"0"	"c.3628G>A"	"r.(?)"	"p.(Gly1210Arg)"	""	""
"0000883723"	"00001203"	"90"	"3676"	"0"	"3676"	"0"	"c.3676C>T"	"r.(?)"	"p.(Arg1226Ter)"	""	""
"0000883724"	"00001203"	"10"	"4030"	"0"	"4030"	"0"	"c.4030C>T"	"r.(?)"	"p.(Leu1344=)"	""	""
"0000883725"	"00001203"	"30"	"4332"	"0"	"4332"	"0"	"c.4332G>A"	"r.(?)"	"p.(Met1444Ile)"	""	""
"0000883726"	"00001203"	"30"	"4333"	"0"	"4333"	"0"	"c.4333C>T"	"r.(?)"	"p.(Leu1445Phe)"	""	""
"0000883727"	"00001203"	"50"	"4525"	"0"	"4525"	"0"	"c.4525C>A"	"r.(?)"	"p.(Gln1509Lys)"	""	""
"0000911175"	"00001203"	"50"	"392"	"0"	"392"	"0"	"c.392G>A"	"r.(?)"	"p.(Arg131His)"	""	""
"0000923282"	"00001203"	"30"	"1859"	"0"	"1859"	"0"	"c.1859C>T"	"r.(?)"	"p.(Thr620Met)"	""	""
"0000923283"	"00001203"	"50"	"2416"	"0"	"2416"	"0"	"c.2416C>T"	"r.(?)"	"p.(Arg806Cys)"	""	""
"0000928260"	"00001203"	"50"	"1532"	"0"	"1532"	"0"	"c.1532C>T"	"r.(?)"	"p.(Ser511Leu)"	""	""
"0000947339"	"00001203"	"50"	"120"	"0"	"122"	"0"	"c.120_122dup"	"r.(?)"	"p.(Ala44dup)"	""	""
"0000947340"	"00001203"	"50"	"1059"	"0"	"1059"	"0"	"c.1059G>C"	"r.(?)"	"p.(Gln353His)"	""	""
"0000947341"	"00001203"	"50"	"2945"	"0"	"2945"	"0"	"c.2945C>T"	"r.(?)"	"p.(Pro982Leu)"	""	""
"0000947342"	"00001203"	"50"	"3415"	"0"	"3415"	"0"	"c.3415A>G"	"r.(?)"	"p.(Lys1139Glu)"	""	""
"0000947343"	"00001203"	"30"	"4332"	"0"	"4332"	"0"	"c.4332G>A"	"r.(?)"	"p.(Met1444Ile)"	""	""
"0000947344"	"00001203"	"30"	"4333"	"0"	"4333"	"0"	"c.4333C>T"	"r.(?)"	"p.(Leu1445Phe)"	""	""
"0000961278"	"00001203"	"30"	"1869"	"0"	"1869"	"0"	"c.1869C>A"	"r.(?)"	"p.(=)"	""	""
"0000974251"	"00001203"	"30"	"253"	"0"	"253"	"0"	"c.253G>A"	"r.(?)"	"p.(Gly85Arg)"	""	""
"0000974252"	"00001203"	"30"	"254"	"6393"	"254"	"6393"	"c.254+6393dup"	"r.(=)"	"p.(=)"	""	""
"0000974253"	"00001203"	"50"	"447"	"0"	"447"	"0"	"c.447C>G"	"r.(?)"	"p.(Ser149Arg)"	""	""
"0000974254"	"00001203"	"50"	"781"	"0"	"781"	"0"	"c.781A>T"	"r.(?)"	"p.(Asn261Tyr)"	""	""
"0000974255"	"00001203"	"50"	"791"	"0"	"791"	"0"	"c.791G>A"	"r.(?)"	"p.(Arg264Gln)"	""	""
"0000974256"	"00001203"	"50"	"1034"	"0"	"1036"	"0"	"c.1034_1036dup"	"r.(?)"	"p.(Ser345dup)"	""	""
"0000974257"	"00001203"	"50"	"1289"	"0"	"1289"	"0"	"c.1289C>G"	"r.(?)"	"p.(Ala430Gly)"	""	""
"0000974258"	"00001203"	"30"	"1368"	"6"	"1368"	"6"	"c.1368+6del"	"r.(=)"	"p.(=)"	""	""
"0000974259"	"00001203"	"50"	"1483"	"0"	"1483"	"0"	"c.1483C>T"	"r.(?)"	"p.(Arg495Trp)"	""	""
"0000974260"	"00001203"	"50"	"1612"	"0"	"1612"	"0"	"c.1612G>A"	"r.(?)"	"p.(Glu538Lys)"	""	""
"0000974261"	"00001203"	"30"	"1798"	"0"	"1798"	"0"	"c.1798C>T"	"r.(?)"	"p.(Arg600Cys)"	""	""
"0000974262"	"00001203"	"30"	"2741"	"0"	"2741"	"0"	"c.2741G>A"	"r.(?)"	"p.(Arg914Gln)"	""	""
"0000974263"	"00001203"	"70"	"3589"	"0"	"3590"	"0"	"c.3589_3590dup"	"r.(?)"	"p.(Leu1198Alafs*23)"	""	""
"0000991580"	"00001203"	"50"	"592"	"0"	"592"	"0"	"c.592G>A"	"r.(?)"	"p.(Gly198Arg)"	""	""
"0000991581"	"00001203"	"30"	"1015"	"0"	"1015"	"0"	"c.1015A>T"	"r.(?)"	"p.(Thr339Ser)"	""	""
"0000991582"	"00001203"	"50"	"1121"	"0"	"1121"	"0"	"c.1121G>A"	"r.(?)"	"p.(Arg374His)"	""	""
"0000991583"	"00001203"	"50"	"1418"	"0"	"1418"	"0"	"c.1418G>A"	"r.(?)"	"p.(Arg473His)"	""	""
"0000991584"	"00001203"	"50"	"1517"	"0"	"1517"	"0"	"c.1517C>T"	"r.(?)"	"p.(Thr506Met)"	""	""
"0000991585"	"00001203"	"50"	"1760"	"0"	"1760"	"0"	"c.1760C>T"	"r.(?)"	"p.(Thr587Met)"	""	""
"0000991586"	"00001203"	"50"	"1780"	"0"	"1780"	"0"	"c.1780C>T"	"r.(?)"	"p.(His594Tyr)"	""	""
"0000991587"	"00001203"	"50"	"2129"	"0"	"2129"	"0"	"c.2129C>G"	"r.(?)"	"p.(Ala710Gly)"	""	""
"0000991588"	"00001203"	"50"	"2561"	"0"	"2561"	"0"	"c.2561C>A"	"r.(?)"	"p.(Ser854Tyr)"	""	""
"0000991589"	"00001203"	"50"	"2995"	"0"	"2995"	"0"	"c.2995C>T"	"r.(?)"	"p.(Pro999Ser)"	""	""
"0000991590"	"00001203"	"30"	"3344"	"0"	"3344"	"0"	"c.3344C>T"	"r.(?)"	"p.(Ser1115Phe)"	""	""
"0000991591"	"00001203"	"30"	"3868"	"0"	"3868"	"0"	"c.3868C>T"	"r.(?)"	"p.(Pro1290Ser)"	""	""
"0000991592"	"00001203"	"30"	"4160"	"0"	"4160"	"0"	"c.4160G>A"	"r.(?)"	"p.(Arg1387His)"	""	""
"0001007039"	"00001203"	"70"	"1505"	"0"	"1505"	"0"	"c.1505C>A"	"r.(?)"	"p.(Pro502His)"	"10"	"substitution"
"0001032341"	"00001203"	"30"	"-60495"	"0"	"-60495"	"0"	"c.-60495C>T"	"r.(?)"	"p.(=)"	""	""
"0001032342"	"00001203"	"30"	"119"	"0"	"119"	"0"	"c.119C>T"	"r.(?)"	"p.(Ala40Val)"	""	""
"0001032343"	"00001203"	"30"	"321"	"0"	"321"	"0"	"c.321G>A"	"r.(?)"	"p.(Pro107=)"	""	""
"0001032344"	"00001203"	"50"	"1368"	"6"	"1368"	"6"	"c.1368+6C>G"	"r.(=)"	"p.(=)"	""	""
"0001032345"	"00001203"	"30"	"1418"	"0"	"1418"	"0"	"c.1418G>A"	"r.(?)"	"p.(Arg473His)"	""	""
"0001032346"	"00001203"	"30"	"1433"	"0"	"1433"	"0"	"c.1433C>T"	"r.(?)"	"p.(Thr478Met)"	""	""
"0001032347"	"00001203"	"30"	"2241"	"0"	"2241"	"0"	"c.2241C>T"	"r.(?)"	"p.(=)"	""	""
"0001032348"	"00001203"	"30"	"2509"	"0"	"2509"	"0"	"c.2509G>A"	"r.(?)"	"p.(Glu837Lys)"	""	""
"0001048184"	"00001203"	"10"	"4332"	"0"	"4332"	"0"	"c.4332G>A"	"r.(?)"	"p.(Met1444Ile)"	""	""
"0001048196"	"00001203"	"10"	"4333"	"0"	"4333"	"0"	"c.4333C>T"	"r.(?)"	"p.(Leu1445Phe)"	""	""
"0001050776"	"00001203"	"50"	"84"	"0"	"84"	"0"	"c.84G>A"	"r.(?)"	"p.(=)"	""	""
"0001050777"	"00001203"	"30"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Arg102Trp)"	""	""
"0001050778"	"00001203"	"50"	"458"	"-1"	"458"	"-1"	"c.458-1G>C"	"r.spl?"	"p.?"	""	""
"0001050779"	"00001203"	"50"	"1483"	"0"	"1483"	"0"	"c.1483C>G"	"r.(?)"	"p.(Arg495Gly)"	""	""
"0001050780"	"00001203"	"30"	"2717"	"0"	"2717"	"0"	"c.2717C>T"	"r.(?)"	"p.(Pro906Leu)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}"	"{{variantid}}"
"0000000210"	"0000011706"
"0000050662"	"0000079642"
"0000182157"	"0000406023"
"0000293404"	"0000650093"
"0000293405"	"0000650094"
"0000293406"	"0000650095"
"0000293407"	"0000650096"
"0000293408"	"0000650097"
"0000304148"	"0000667546"
"0000305814"	"0000669502"
"0000305815"	"0000669503"
"0000455062"	"0001007039"
"0000468362"	"0001048184"
"0000468362"	"0001048196"