### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TFR2)
# 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}}"
"TFR2"	"transferrin receptor 2"	"7"	"q22"	"unknown"	"NG_007989.1"	"UD_132085390538"	""	"https://www.LOVD.nl/TFR2"	""	"1"	"11762"	"7036"	"604720"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\"><b>databases from the FH UCL BHF</b></font>\r\nEstablishment 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."	""	"g"	"http://databases.lovd.nl/shared/refseq/TFR2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2017-09-08 15:20:37"	"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}}"
"00021037"	"TFR2"	"transcript variant 1"	"001"	"NM_003227.3"	""	"NP_003218.2"	""	""	""	"-41"	"2847"	"2406"	"100239173"	"100218039"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00411"	"HFE1"	"hemochromatosis, type 1 (HFE-1)"	"AR"	"235200"	""	""	""	"00006"	"2014-06-15 21:19:45"	"00006"	"2021-12-10 21:51:32"
"00534"	"HFE3"	"hemochromatosis, type 3 (HFE-3)"	"AR"	"604250"	""	""	""	"00006"	"2014-09-22 23:15:19"	"00006"	"2021-12-10 21:51:32"
"05278"	"HFE"	"hemochromatosis (HFE)"	""	""	""	""	""	"00006"	"2017-06-09 17:44:31"	""	""
"06495"	"RLSDF"	"Rhizomelic limb shortening with dysmorphic features"	"AR"	"618821"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TFR2"	"00534"


## Individuals ## Do not remove or alter this header ##
## Count = 87
"{{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}}"
"00019844"	""	""	""	"1"	""	"00776"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"22890139-Fam1"
"00019846"	""	""	""	"1"	""	"00776"	"{PMID:Zamani 2012:23018356}"	""	"F"	""	"Iran"	""	"0"	""	""	""	"23018356-Pat1"
"00019847"	""	""	""	"3"	""	"00776"	"{PMID:Hattori 2003:12809944}"	"2-generation family, 3 affected sibs (F, 2M)"	"F;M"	""	"Japan"	""	"0"	""	""	""	"12809944-Fam"
"00019851"	""	""	""	"1"	""	"00776"	"{PMID:Del-Castillo-Rueda 2011:21770687}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	"21770687-Pat"
"00019853"	""	""	""	"2"	""	"00776"	"{PMID:Gerolami 2008:18450729}, {DOI:Gerolami 2008:10.3324/haematol.12884}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"18450729-Pat"
"00019854"	""	""	""	"4"	""	"00776"	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	"3-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives"	"F"	""	"Spain"	""	"0"	""	""	""	"26029709_Fam1"
"00019855"	""	""	""	"4"	""	"00776"	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs"	"F"	"no"	"Spain"	""	"0"	""	""	""	"26029709_Fam2"
"00019856"	""	""	""	"1"	""	"00776"	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs"	"M"	"no"	"Spain"	""	"0"	""	""	""	"26029709_Fam3"
"00024118"	""	""	""	"1"	""	"00557"	"{PMID:Lee and Barton 2006:16424658}"	""	"M"	"-"	"United Kingdom (Great Britain)"	""	"0"	""	"34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed)"	"White of Scottish descent"	""
"00024226"	""	""	""	"1"	""	"00815"	""	""	"F"	"no"	"Italy"	">27y"	"0"	""	"Weekly phlebotomy"	"white"	""
"00024227"	""	""	""	"1"	""	"00815"	""	""	"F"	"no"	"Chile"	""	"0"	""	""	"Chilean"	""
"00024229"	""	""	""	"1"	""	"00815"	""	""	"F"	"no"	"Italy"	""	"0"	""	""	"Italian"	""
"00024958"	""	""	""	"6"	""	"00006"	"{PMID:Camaschella 2000:10802645}, {DOI:Camaschella 2000:10.1038/75534}, {PMID:Roetto 2001:11313241}"	"7-generation family, 6 affecteds, (2F, 4M), unaffected heterozygous carriers"	"-"	"yes"	"Italy"	""	"0"	""	""	"Italina, Sicily"	""
"00024959"	""	""	""	"3"	""	"00006"	"{PMID:Camaschella 2000:10802645}, {DOI:Camaschella 2000:10.1038/75534}, {PMID:Roetto 2001:11313241}"	"2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D"	"M"	"?"	"Italy"	""	"0"	""	""	"Italina, Sicily"	""
"00024960"	""	""	""	"6"	""	"00006"	"{PMID:Roetto 2001:11313241}, {DOI:Roetto 2001:10.1182/blood.V97.9.2555}"	"6-generation family, 6 affecteds, (2F, 4M), 6 unaffected heterozygous carriers"	""	"yes"	"Italy"	""	"0"	""	""	"Italian, south, Campania"	""
"00024961"	""	""	""	"1"	""	"00006"	"{PMID:Roetto 2001:11313241}, {DOI:Roetto 2001:10.1182/blood.V97.9.2555}"	"3-generation family, 1 affected, unaffected heterozygous carriers"	""	"?"	"Italy"	""	"0"	""	""	"Italian, central, Lazio"	""
"00024962"	""	""	""	"1"	""	"00557"	"{PMID:Hofmann 2002:12150153}"	"2-generation family, mother HFE:C282Y homozygous sibs with discordant phenotype"	"F"	"?"	"United States"	""	"0"	""	""	""	""
"00024964"	""	""	""	"1"	""	"00557"	"{PMID:Hofmann 2002:12150153}"	"2-generation family, Sib2 HFE:C282Y homozygous sibs with discordant phenotype"	"M"	"?"	"United States"	""	"0"	""	""	""	""
"00024965"	""	""	""	"2"	""	"00557"	"{PMID:Hofmann 2002:12150153}"	"2-generation family, Sib3+4 HFE:C282Y homozygous sibs with discordant phenotype"	""	"?"	"United States"	""	"0"	""	""	""	""
"00024966"	""	""	""	"1"	""	"00557"	"{PMID:Hofmann 2002:12150153}"	"2-generation family, Sib5 HFE:C282Y homozygous sibs with discordant phenotype"	""	"?"	"United States"	""	"0"	""	""	""	""
"00024967"	""	""	""	"3"	""	"01157"	"{PMID:Mattman 2002:12130528}, {DOI:Mattman 2002:10.1182/blood-2002-01-0133}"	"4-generation family, 3 affecteds (2F, M), index has 2 affected sisters (1HFE:H63D heterozygote)"	""	"yes"	"Portugal"	""	"0"	""	""	"Portuguese"	""
"00024968"	""	""	""	"89"	""	"00006"	"{PMID:Mattman 2002:12130528}"	"89 iron overload patients, non-HFE:C282Y"	""	"?"	"Canada"	""	"0"	""	""	""	""
"00024969"	""	""	""	"3"	""	"01157"	"{PMID:Girelli 2002:11984516}"	"2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carriers"	"M"	"?"	"Italy"	""	"0"	""	""	"Italian, north"	""
"00024970"	""	""	""	"1"	""	"00557"	"{PMID:Hsiao 2007:17562347}"	""	"F"	"?"	"Taiwan"	""	"0"	""	""	"Taiwanese"	""
"00024971"	""	""	""	"1"	""	"01157"	"{PMID:Pelucchi 2009:19144662}, {DOI:Pelucchi 2009:10.3324/haematol.13576}"	""	"F"	"?"	"Italy"	""	"0"	""	""	"Italian, south, Campania"	"HC_00002"
"00024973"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2008:18245657}"	""	"F"	"?"	"Italy"	""	"0"	""	""	""	""
"00024974"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2008:18245657}"	"affected brother/sister"	"M"	"?"	"Italy"	""	"0"	""	""	""	""
"00024975"	""	""	""	"50"	""	"00006"	"{PMID:Biasiotto 2008:18245657}"	"50 controls"	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024976"	""	""	""	"1"	""	"00006"	"{PMID:Koyama 2005:15749661}"	""	""	"yes"	"Japan"	""	"0"	""	""	""	""
"00024977"	""	""	""	"1"	""	"00006"	"{PMID:Koyama 2005:15749661}"	""	""	"no"	"Japan"	""	"0"	""	""	""	""
"00024978"	""	""	""	"1"	""	"00006"	"{PMID:Koyama 2005:15749661}"	""	""	"no"	"Japan"	""	"0"	""	""	""	""
"00024979"	""	""	""	"1"	""	"00006"	"{PMID:Gerolami 2008:18450729}"	""	"F"	"?"	"Italy"	""	"0"	""	""	""	""
"00024980"	""	""	""	"3"	""	"00006"	"{PMID:Pietrangelo 2005:15685557}"	"4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars"	"-"	"yes"	"Italy"	""	"0"	""	""	""	""
"00024981"	""	""	""	"1"	""	"00006"	"{PMID:Le Gac 2004:15147384}"	"2-generation famil, affected brother/sister"	"-"	"yes"	"France"	""	"0"	""	""	"French, north"	""
"00024982"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024983"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024984"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024985"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024986"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024987"	""	""	""	"8"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	"family, 8 affecteds"	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024988"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024989"	""	""	""	"1"	""	"00006"	"{PMID:Biasiotto 2003:14633868}"	""	""	"?"	"Italy"	""	"0"	""	""	""	""
"00024990"	""	""	""	"1"	""	"00006"	"{PMID:Del Castillo-Rueda 2011:21524769}"	"family"	""	"?"	"Spain"	""	"0"	""	""	""	""
"00024991"	""	""	""	"1"	""	"00006"	"{PMID:Mendes 2009:18762941}"	""	""	"?"	"Portugal"	""	"0"	""	""	""	""
"00024992"	""	""	""	"1"	""	"00006"	"{PMID:Mendes 2009:18762941}"	""	""	"?"	"Portugal"	""	"0"	""	""	""	""
"00024993"	""	""	""	"1"	""	"00006"	"{PMID:Mendes 2009:18762941}"	""	""	"?"	"Portugal"	""	"0"	""	""	""	""
"00104898"	""	""	""	"5"	""	"00006"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	"2-generation family, affected father and son"	"M"	"no"	"Spain"	""	"0"	""	""	""	"22890139-Fam2Pat1"
"00104899"	""	""	"00104898"	"1"	""	"00006"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	"father of Pat1"	"M"	""	"Spain"	""	"0"	""	""	""	"22890139-Fam2Pat1f"
"00104900"	""	""	"00104898"	"1"	""	"00006"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	"mother of Pat1"	"F"	""	"Spain"	""	"0"	""	""	""	"22890139-Fam2Pat1m"
"00104902"	""	""	"00104898"	"1"	""	"00006"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"22890139-Fam2Pat1s1"
"00104903"	""	""	""	"1"	""	"00006"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	"2-generation family, 1 affected"	"M"	""	"Spain"	""	"0"	""	""	""	"22890139-Fam3Pat1"
"00104904"	""	""	""	"1"	""	"00006"	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"22890139-Fam4Pat1"
"00104907"	""	""	""	"2"	""	"00006"	"{PMID:Majore 2006:16923517}"	"2-generation family, affected sister/brother, unaffected heterozygous carrier parents"	"F;M"	""	"Italy"	""	"0"	""	""	"Italy, central (Abruzzo)"	"16923517-Pats"
"00104908"	""	""	""	"1"	""	"00006"	"{PMID:Piperno 2004:15020277}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Italy"	""	"0"	""	""	"Sicily"	"15020277-Fam1"
"00104909"	""	""	""	"1"	""	"00006"	"{PMID:Piperno 2004:15020277}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Italy"	""	"0"	""	""	"Sicily"	"15020277-Fam2"
"00104910"	""	""	""	"1"	""	"00006"	"{PMID:Majore 2013:22981443}"	""	"M"	""	"Burundi"	""	"0"	""	""	""	"22981443-Pat"
"00104911"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104912"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104913"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104914"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104915"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104916"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104917"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104918"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104919"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104920"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104921"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163"
"00104922"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104923"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104924"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104925"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104926"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104927"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104928"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104929"	""	""	""	"1"	""	"00006"	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Italy"	""	"0"	""	""	""	"24055163-Pat"
"00104930"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	"F"	"yes"	"France"	""	"0"	""	""	""	"23600741-Pat1"
"00104931"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	"M"	""	"France"	""	"0"	""	""	""	"23600741-Pat2"
"00104932"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"France"	""	"0"	""	""	"Africa, north"	"23600741-Pat3"
"00104933"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"23600741-Pat4"
"00104934"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	"M"	""	"France"	""	"0"	""	""	""	"23600741-Pat5"
"00104935"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	"F"	""	"France"	""	"0"	""	""	""	"23600741-Pat6"
"00104936"	""	""	""	"1"	""	"00006"	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	"F"	""	"France"	""	"0"	""	""	""	"23600741-Pat7"
"00104937"	""	""	""	"1"	""	"00006"	"{PMID:Barton 2008:17726683}, {DOI:Barton 2008:10.1002/ajh.21053}"	""	"F"	""	"United States"	""	"0"	""	""	"native American;white"	"17726683-Pat"
"00294216"	""	""	""	"47"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305121"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00435464"	""	""	""	"1"	""	"00006"	"{PMID:Sajan 2019:30478137}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"?"	""	"United States"	""	"0"	""	""	""	"Pat2"
"00461042"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 87
"{{individualid}}"	"{{diseaseid}}"
"00019844"	"05278"
"00019846"	"05278"
"00019847"	"05278"
"00019851"	"00411"
"00019853"	"00534"
"00019854"	"00534"
"00019855"	"00534"
"00019856"	"00534"
"00024118"	"00534"
"00024226"	"00534"
"00024227"	"00534"
"00024229"	"00534"
"00024958"	"00534"
"00024959"	"00534"
"00024960"	"00534"
"00024961"	"00534"
"00024962"	"00198"
"00024964"	"00411"
"00024965"	"00198"
"00024966"	"00198"
"00024967"	"00411"
"00024968"	"00411"
"00024969"	"00534"
"00024970"	"00534"
"00024971"	"00411"
"00024973"	"00411"
"00024974"	"00411"
"00024975"	"00198"
"00024976"	"00411"
"00024977"	"00411"
"00024978"	"00411"
"00024979"	"00411"
"00024980"	"00411"
"00024981"	"00411"
"00024982"	"00411"
"00024983"	"00411"
"00024984"	"00411"
"00024985"	"00411"
"00024986"	"00411"
"00024987"	"00411"
"00024988"	"00411"
"00024989"	"00411"
"00024990"	"00411"
"00024991"	"00411"
"00024992"	"00411"
"00024993"	"00411"
"00104898"	"05278"
"00104899"	"05278"
"00104900"	"00000"
"00104902"	"00000"
"00104903"	"05278"
"00104904"	"05278"
"00104907"	"05278"
"00104908"	"05278"
"00104909"	"05278"
"00104910"	"05278"
"00104911"	"05278"
"00104912"	"05278"
"00104913"	"05278"
"00104914"	"05278"
"00104915"	"05278"
"00104916"	"05278"
"00104917"	"05278"
"00104918"	"05278"
"00104919"	"05278"
"00104920"	"05278"
"00104921"	"05278"
"00104922"	"05278"
"00104923"	"05278"
"00104924"	"05278"
"00104925"	"05278"
"00104926"	"05278"
"00104927"	"05278"
"00104928"	"05278"
"00104929"	"05278"
"00104930"	"05278"
"00104931"	"05278"
"00104932"	"05278"
"00104933"	"05278"
"00104934"	"05278"
"00104935"	"05278"
"00104936"	"05278"
"00104937"	"05278"
"00294216"	"00198"
"00305121"	"00198"
"00435464"	"06495"
"00461042"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00411, 00534, 05278, 06495
## Count = 82
"{{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}}"
"0000017589"	"00411"	"00019851"	"00776"	"Complex"	"29y"	"Iron overload due to genetics and environmental factors (alcoholic habits)"	""	""	""	""	""	""	""	""	""	""	""
"0000020220"	"00534"	"00024118"	"00557"	"Unknown"	"48y"	"hemochromatosis, severe iron overload; see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021078"	"00534"	"00024958"	"00006"	"Familial, autosomal recessive"	""	"see paper; all patients had increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatV11 had arthritis and histologically documented cirrhosis"	""	""	""	""	""	""	""	""	""	""	""
"0000021079"	"00534"	"00024959"	"00006"	"Familial, autosomal recessive"	""	"see paper; increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatII3 had liver cirrhosis, diabetes and arthritis"	""	""	""	""	""	""	""	""	""	""	""
"0000021080"	"00534"	"00024960"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021081"	"00534"	"00024961"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021082"	"00198"	"00024962"	"00557"	"Familial"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021084"	"00411"	"00024964"	"00557"	"Familial"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021085"	"00198"	"00024965"	"00557"	"Familial"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021086"	"00198"	"00024966"	"00557"	"Familial"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021087"	"00411"	"00024967"	"01157"	"Familial, autosomal recessive"	"29y"	"hemochromatosis, juvenile; fatigue, hypogonadotropic hypogonadism, hyperpigmentation, mild elevation liver transaminases, idiopathic thrombocytopenic purpura, mild normocytic anemia and lymphopenia; elevated hepatic iron (0012465) phlebotomy >12g Fe over 4y"	""	""	""	""	""	""	""	""	""	""	""
"0000021088"	"00411"	"00024968"	"00006"	"-"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021089"	"00534"	"00024969"	"01157"	"Familial, autosomal recessive"	""	"see paper; ..., hemochromatosis, juvenile; elevated hepatic iron (HP:0012465) HII 11.2 µmol Fe/g dry wt liver/year; phlebotomy 8.75g Fe"	""	""	""	""	""	""	""	""	""	""	""
"0000021090"	"00534"	"00024970"	"00557"	"Isolated (sporadic)"	""	"chronic hepatitis C infection (AST 41, ALT 58 IU/L; normal ranges < 40 IU/L); never treated with interferon; liver biopsy showed iron mainly in hepatocytes; LFTs normalized after 3y venesection; repeat liver biopsy after 3y venesection contained little iron; elevated hepatic iron (HP:0012465) venesection ~4.5g Fe over 3y; HII 8.48 µmol Fe/g dry wt liver/y"	""	""	""	""	""	""	""	""	""	""	""
"0000021091"	"00411"	"00024971"	"01157"	"Isolated (sporadic)"	"47y"	"liver biopsy showed cirrhosis and moderate steatosis; metabolic syndrome; mild left ventricular hypertrophy; hepatitis B and C viral infections, haematologic and inflammatory diseases excluded; no family history hemochromatosis; elevated hepatic iron (0012465) HII  6.4umol Fe/g dry wt liver/y"	""	""	""	""	""	""	""	""	""	""	""
"0000021093"	"00411"	"00024973"	"00006"	"Isolated (sporadic)"	"21y"	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021094"	"00411"	"00024974"	"00006"	"Unknown"	"12y"	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021095"	"00198"	"00024975"	"00006"	"-"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021096"	"00411"	"00024976"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021097"	"00411"	"00024977"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021098"	"00411"	"00024978"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021099"	"00411"	"00024979"	"00006"	"Isolated (sporadic)"	"28y"	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021100"	"00411"	"00024980"	"00006"	"Isolated (sporadic)"	""	"see paper, variable; severe endocrinopathy and cardiomyopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000021101"	"00411"	"00024981"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000021102"	"00411"	"00024982"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021103"	"00411"	"00024983"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021104"	"00411"	"00024984"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021105"	"00411"	"00024985"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021106"	"00411"	"00024986"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021107"	"00411"	"00024987"	"00006"	"Familial"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021108"	"00411"	"00024988"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021109"	"00411"	"00024989"	"00006"	"Unknown"	""	"altered iron status"	""	""	""	""	""	""	""	""	""	""	""
"0000021110"	"00411"	"00024990"	"00006"	"Familial"	""	"see paper; hyperferritinemia, metabolic syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000021111"	"00411"	"00024991"	"00006"	"Unknown"	""	"see paper; non-classical"	""	""	""	""	""	""	""	""	""	""	""
"0000021112"	"00411"	"00024992"	"00006"	"Unknown"	""	"see paper; non-classical"	""	""	""	""	""	""	""	""	""	""	""
"0000021113"	"00411"	"00024993"	"00006"	"Unknown"	""	"see paper; non-classical"	""	""	""	""	""	""	""	""	""	""	""
"0000082785"	"00534"	"00019855"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082786"	"00534"	"00019856"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082787"	"00534"	"00019854"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082792"	"00534"	"00019853"	"00776"	"Familial, autosomal recessive"	"28y"	"iron overload and astheny"	""	""	""	""	""	""	""	""	""	""	""
"0000082793"	"05278"	"00019844"	"00776"	"Familial, autosomal recessive"	"59y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000082794"	"05278"	"00104898"	"00006"	"Familial, autosomal recessive"	"26y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082795"	"05278"	"00104899"	"00006"	"Familial, autosomal recessive"	"69y"	"hemochromatosis, treated with phlebotomy"	""	""	""	""	""	""	""	""	""	""	""
"0000082796"	"05278"	"00104903"	"00006"	"Familial, autosomal recessive"	"52y"	"mild hyperferritinemia, metabolic syndrome, body mass index 31, hypercholesterolemia, type 2 diabetes mellitus, hepatic steatosis; iron overload phenotype, MRI mild liver iron overload (50 μmol Fe/g); phlebotomy initiated at 450 ml of blood per month for 3 months, then every 3 months thereafter\r\nwith an annual check-up (1.35 g of Fe removed) ;no laboratory values to assess response;measures to control weight, cholesterol, and glucose were prescribed"	""	""	""	""	""	""	""	""	""	""	""
"0000082797"	"05278"	"00104904"	"00006"	"Familial, autosomal recessive"	"44y"	"classic hemochromatosis; MRI revealed iron overload phenotype, severe\r\nliver iron overload (230 μmol Fe/g);  received phlebotomy for 2y (6.07g of Fe removed), no follow-up MR"	""	""	""	""	""	""	""	""	""	""	""
"0000082799"	"05278"	"00019846"	"00776"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082800"	"05278"	"00019847"	"00006"	"Familial, autosomal recessive"	""	"severe iron deposits in the hepatocytes and bile ducts, generally pigmented, none affected by diabetes mellitus, elevated serum CA19-9"	""	""	""	""	""	""	""	""	""	""	""
"0000082801"	"00534"	"00024226"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082802"	"00534"	"00024227"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082803"	"00534"	"00024229"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082804"	"05278"	"00104907"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082805"	"05278"	"00104908"	"00006"	"Familial, autosomal recessive"	"03y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082806"	"05278"	"00104909"	"00006"	"Familial, autosomal recessive"	"16y"	"see paper"	""	""	""	""	""	""	""	""	""	""	""
"0000082807"	"05278"	"00104910"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082808"	"05278"	"00104911"	"00006"	"Familial, autosomal recessive"	"28y"	"severe hereditary hemochromatosis"	""	""	""	""	""	""	""	""	""	""	""
"0000082809"	"05278"	"00104912"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082810"	"05278"	"00104913"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082811"	"05278"	"00104914"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082812"	"05278"	"00104915"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082813"	"05278"	"00104916"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082814"	"05278"	"00104917"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082815"	"05278"	"00104918"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082816"	"05278"	"00104919"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082817"	"05278"	"00104920"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082818"	"05278"	"00104921"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082819"	"05278"	"00104922"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082820"	"05278"	"00104923"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082821"	"05278"	"00104924"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082822"	"05278"	"00104925"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082823"	"05278"	"00104926"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082824"	"05278"	"00104927"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082825"	"05278"	"00104928"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082826"	"05278"	"00104929"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082827"	"05278"	"00104930"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082828"	"05278"	"00104931"	"00006"	"Familial, autosomal recessive"	"17y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082829"	"05278"	"00104932"	"00006"	"Familial, autosomal recessive"	"39y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082830"	"05278"	"00104933"	"00006"	"Familial, autosomal recessive"	"25y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082831"	"05278"	"00104934"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082832"	"05278"	"00104935"	"00006"	"Familial, autosomal dominant"	"28y"	"see paper; arthropathy, non-HFE related haemochromatosis, elevated transferrin saturation, arthropathy; phlebotomies very well tolerated, removed 19.5 g\r\niron"	""	""	""	""	""	""	""	""	""	""	""
"0000082833"	"05278"	"00104936"	"00006"	"Familial, autosomal recessive"	"29y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000082834"	"05278"	"00104937"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000325654"	"06495"	"00435464"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation"	""	"<00y06m"	""	""	""	""	""	""	"RLSDF"	"rhizomelic shortening of limbs, dysmorphic features"	""


## Screenings ## Do not remove or alter this header ##
## Count = 88
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000019834"	"00019844"	"1"	"00776"	"00776"	"2014-09-05 09:53:32"	""	""	"SEQ"	"DNA"	"Whole blood"	""
"0000019836"	"00019846"	"1"	"00776"	"00776"	"2014-09-05 11:01:17"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019838"	"00019847"	"1"	"00776"	"00776"	"2014-09-05 11:47:14"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019842"	"00019851"	"1"	"00776"	"00776"	"2014-09-05 12:40:34"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019843"	"00019853"	"1"	"00776"	"00776"	"2014-09-05 12:50:51"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019844"	"00019853"	"1"	"00776"	"00776"	"2014-09-05 13:12:17"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019845"	"00019854"	"1"	"00776"	"00776"	"2014-09-05 14:30:50"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019846"	"00019855"	"1"	"00776"	"00776"	"2014-09-05 14:42:43"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000019847"	"00019856"	"1"	"00776"	"00776"	"2014-09-05 14:51:38"	""	""	"SEQ"	"DNA"	"Peripheral blood"	""
"0000024105"	"00024118"	"1"	"00557"	"00557"	"2014-10-21 13:07:59"	"00006"	"2014-10-22 22:43:49"	"PCR;SEQ"	"DNA"	""	""
"0000024218"	"00024226"	"1"	"00815"	"00815"	"2014-11-07 13:20:45"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000024219"	"00024227"	"1"	"00815"	"00815"	"2014-11-07 13:57:09"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000024221"	"00024229"	"1"	"00815"	"00815"	"2014-11-07 14:19:29"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000024960"	"00024958"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000024961"	"00024959"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	"00006"	"2014-11-28 22:17:46"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000024962"	"00024960"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000024963"	"00024961"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000024964"	"00024962"	"1"	"00557"	"00557"	"2013-05-13 19:37:06"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000024966"	"00024964"	"1"	"00557"	"00557"	"2013-05-13 19:37:06"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000024967"	"00024965"	"1"	"00557"	"00557"	"2013-05-13 19:37:06"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000024968"	"00024966"	"1"	"00557"	"00557"	"2013-05-13 19:37:06"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000024969"	"00024967"	"1"	"01157"	"00557"	"2013-05-29 12:17:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000024970"	"00024968"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000024971"	"00024969"	"1"	"01157"	"00557"	"2013-05-14 17:03:50"	""	""	"PAGE;SEQ"	"DNA"	""	""
"0000024972"	"00024970"	"1"	"00557"	"00557"	"2013-05-10 19:29:02"	"00557"	"2013-05-10 19:53:47"	"SEQ"	"DNA"	""	""
"0000024973"	"00024971"	"1"	"01157"	"00557"	"2013-05-14 15:54:49"	"00557"	"2013-05-14 20:15:54"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000024975"	"00024973"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024976"	"00024974"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024977"	"00024975"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024978"	"00024976"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024979"	"00024977"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024980"	"00024978"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024981"	"00024979"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024982"	"00024980"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024983"	"00024981"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024984"	"00024982"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024985"	"00024983"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024986"	"00024984"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024987"	"00024985"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024988"	"00024986"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024989"	"00024987"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024990"	"00024988"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024991"	"00024989"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000024992"	"00024990"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024993"	"00024991"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024994"	"00024992"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000024995"	"00024993"	"1"	"00006"	"00006"	"2014-11-28 21:43:46"	""	""	"SEQ"	"DNA"	""	""
"0000105370"	"00104898"	"1"	"00006"	"00006"	"2017-06-09 17:57:00"	"00006"	"2017-06-09 19:34:54"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000105371"	"00104899"	"1"	"00006"	"00006"	"2017-06-09 19:02:45"	""	""	"SEQ"	"DNA"	""	""
"0000105372"	"00104900"	"1"	"00006"	"00006"	"2017-06-09 19:07:42"	""	""	"SEQ"	"DNA"	""	""
"0000105374"	"00104902"	"1"	"00006"	"00006"	"2017-06-09 19:11:59"	""	""	"SEQ"	"DNA"	""	""
"0000105375"	"00104903"	"1"	"00006"	"00006"	"2017-06-09 19:17:30"	"00006"	"2017-06-09 19:36:13"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000105376"	"00104904"	"1"	"00006"	"00006"	"2017-06-09 19:21:44"	""	""	"SEQ"	"DNA"	""	""
"0000105379"	"00104907"	"1"	"00006"	"00006"	"2017-06-09 23:02:09"	""	""	"SEQ"	"DNA"	""	""
"0000105380"	"00104908"	"1"	"00006"	"00006"	"2017-06-09 23:14:36"	""	""	"SEQ"	"DNA"	""	""
"0000105381"	"00104909"	"1"	"00006"	"00006"	"2017-06-09 23:19:42"	""	""	"SEQ"	"DNA"	""	""
"0000105382"	"00104910"	"1"	"00006"	"00006"	"2017-06-09 23:33:23"	"00006"	"2017-06-09 23:40:04"	"SEQ"	"DNA"	""	""
"0000105383"	"00104911"	"1"	"00006"	"00006"	"2017-06-10 20:51:23"	""	""	"SEQ"	"DNA"	""	""
"0000105384"	"00104912"	"1"	"00006"	"00006"	"2017-06-10 20:55:42"	""	""	"SEQ"	"DNA"	""	""
"0000105385"	"00104913"	"1"	"00006"	"00006"	"2017-06-10 20:58:31"	"00006"	"2017-06-10 21:04:18"	"SEQ"	"DNA"	""	""
"0000105386"	"00104914"	"1"	"00006"	"00006"	"2017-06-10 21:02:27"	""	""	"SEQ"	"DNA"	""	""
"0000105387"	"00104915"	"1"	"00006"	"00006"	"2017-06-10 21:05:35"	""	""	"SEQ"	"DNA"	""	""
"0000105388"	"00104916"	"1"	"00006"	"00006"	"2017-06-10 21:08:02"	""	""	"SEQ"	"DNA"	""	""
"0000105389"	"00104917"	"1"	"00006"	"00006"	"2017-06-10 21:10:50"	""	""	"SEQ"	"DNA"	""	""
"0000105390"	"00104918"	"1"	"00006"	"00006"	"2017-06-10 21:13:16"	""	""	"SEQ"	"DNA"	""	""
"0000105391"	"00104919"	"1"	"00006"	"00006"	"2017-06-10 21:15:46"	""	""	"SEQ"	"DNA"	""	""
"0000105392"	"00104920"	"1"	"00006"	"00006"	"2017-06-10 21:19:32"	""	""	"SEQ"	"DNA"	""	""
"0000105393"	"00104921"	"1"	"00006"	"00006"	"2017-06-10 21:21:39"	""	""	"SEQ"	"DNA"	""	""
"0000105394"	"00104922"	"1"	"00006"	"00006"	"2017-06-10 21:23:41"	""	""	"SEQ"	"DNA"	""	""
"0000105395"	"00104923"	"1"	"00006"	"00006"	"2017-06-10 21:26:10"	""	""	"SEQ"	"DNA"	""	""
"0000105396"	"00104924"	"1"	"00006"	"00006"	"2017-06-10 21:29:38"	""	""	"SEQ"	"DNA"	""	""
"0000105397"	"00104925"	"1"	"00006"	"00006"	"2017-06-10 21:31:57"	""	""	"SEQ"	"DNA"	""	""
"0000105398"	"00104926"	"1"	"00006"	"00006"	"2017-06-10 21:34:02"	""	""	"SEQ"	"DNA"	""	""
"0000105399"	"00104927"	"1"	"00006"	"00006"	"2017-06-10 21:38:42"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000105400"	"00104928"	"1"	"00006"	"00006"	"2017-06-10 21:42:48"	""	""	"SEQ"	"DNA"	""	""
"0000105401"	"00104929"	"1"	"00006"	"00006"	"2017-06-10 21:45:13"	""	""	"SEQ"	"DNA"	""	""
"0000105402"	"00104930"	"1"	"00006"	"00006"	"2017-06-10 21:54:15"	""	""	"SEQ"	"DNA"	""	""
"0000105403"	"00104931"	"1"	"00006"	"00006"	"2017-06-10 22:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000105404"	"00104932"	"1"	"00006"	"00006"	"2017-06-10 22:26:01"	""	""	"SEQ"	"DNA"	""	""
"0000105405"	"00104933"	"1"	"00006"	"00006"	"2017-06-10 22:29:42"	""	""	"SEQ"	"DNA"	""	""
"0000105406"	"00104934"	"1"	"00006"	"00006"	"2017-06-10 22:37:54"	""	""	"SEQ"	"DNA"	""	""
"0000105407"	"00104935"	"1"	"00006"	"00006"	"2017-06-10 22:43:13"	"00006"	"2017-06-10 22:54:52"	"SEQ"	"DNA"	""	""
"0000105408"	"00104936"	"1"	"00006"	"00006"	"2017-06-10 22:47:57"	""	""	"SEQ"	"DNA"	""	""
"0000105409"	"00104937"	"1"	"00006"	"00006"	"2017-06-11 10:45:02"	""	""	"SEQ"	"DNA"	""	""
"0000295384"	"00294216"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306250"	"00305121"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000436943"	"00435464"	"1"	"00006"	"00006"	"2023-07-31 11:19:02"	""	""	"SEQ-NG"	"DNA"	""	"trio WES"
"0000462674"	"00461042"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"mRNA splicing analysis on tissue"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 126
"{{screeningid}}"	"{{geneid}}"
"0000019834"	"TFR2"
"0000019836"	"TFR2"
"0000019838"	"TFR2"
"0000019842"	"TFR2"
"0000019843"	"TFR2"
"0000019844"	"TFR2"
"0000019845"	"TFR2"
"0000019846"	"TFR2"
"0000019847"	"TFR2"
"0000024105"	"ALAS2"
"0000024105"	"HAMP"
"0000024105"	"HFE"
"0000024105"	"SLC40A1"
"0000024105"	"TFR2"
"0000024218"	"TFR2"
"0000024219"	"TFR2"
"0000024221"	"TFR2"
"0000024960"	"TFR2"
"0000024961"	"HFE"
"0000024961"	"TFR2"
"0000024962"	"TFR2"
"0000024963"	"TFR2"
"0000024964"	"HFE"
"0000024964"	"TFR2"
"0000024966"	"HFE"
"0000024966"	"TFR2"
"0000024967"	"HFE"
"0000024967"	"TFR2"
"0000024968"	"HFE"
"0000024968"	"TFR2"
"0000024969"	"HFE"
"0000024969"	"TFR2"
"0000024970"	"HFE"
"0000024970"	"TFR2"
"0000024971"	"HFE"
"0000024971"	"TFR2"
"0000024972"	"HFE"
"0000024972"	"TFR2"
"0000024973"	"TFR2"
"0000024975"	"TFR2"
"0000024976"	"TFR2"
"0000024977"	"TFR2"
"0000024978"	"HFE"
"0000024978"	"TFR2"
"0000024979"	"HFE"
"0000024979"	"TFR2"
"0000024980"	"HFE"
"0000024980"	"TFR2"
"0000024981"	"HFE"
"0000024981"	"TFR2"
"0000024982"	"HFE"
"0000024982"	"TFR2"
"0000024983"	"HFE"
"0000024983"	"TFR2"
"0000024984"	"HFE"
"0000024984"	"TFR2"
"0000024985"	"HFE"
"0000024985"	"TFR2"
"0000024986"	"HFE"
"0000024986"	"TFR2"
"0000024987"	"HFE"
"0000024987"	"TFR2"
"0000024988"	"HFE"
"0000024988"	"TFR2"
"0000024989"	"HFE"
"0000024989"	"TFR2"
"0000024990"	"HFE"
"0000024990"	"TFR2"
"0000024991"	"HFE"
"0000024991"	"TFR2"
"0000024992"	"TFR2"
"0000024993"	"TFR2"
"0000024994"	"TFR2"
"0000024995"	"TFR2"
"0000105370"	"HFE"
"0000105370"	"TFR2"
"0000105371"	"HFE"
"0000105371"	"TFR2"
"0000105372"	"HFE"
"0000105372"	"TFR2"
"0000105374"	"TFR2"
"0000105375"	"TFR2"
"0000105376"	"HFE"
"0000105376"	"TFR2"
"0000105379"	"TFR2"
"0000105380"	"HFE"
"0000105380"	"TFR2"
"0000105381"	"HFE"
"0000105381"	"TFR2"
"0000105382"	"TFR2"
"0000105383"	"TFR2"
"0000105384"	"TFR2"
"0000105385"	"TFR2"
"0000105386"	"TFR2"
"0000105387"	"TFR2"
"0000105388"	"TFR2"
"0000105389"	"TFR2"
"0000105390"	"TFR2"
"0000105391"	"TFR2"
"0000105392"	"TFR2"
"0000105393"	"TFR2"
"0000105394"	"TFR2"
"0000105395"	"TFR2"
"0000105396"	"TFR2"
"0000105397"	"TFR2"
"0000105398"	"TFR2"
"0000105399"	"TFR2"
"0000105400"	"TFR2"
"0000105401"	"TFR2"
"0000105402"	"HFE"
"0000105402"	"TFR2"
"0000105403"	"HFE"
"0000105403"	"TFR2"
"0000105404"	"TFR2"
"0000105405"	"HFE"
"0000105405"	"TFR2"
"0000105406"	"HFE"
"0000105406"	"TFR2"
"0000105407"	"HFE"
"0000105407"	"SLC40A1"
"0000105407"	"TFR2"
"0000105408"	"HFE"
"0000105408"	"TFR2"
"0000105409"	"HAMP"
"0000105409"	"TFR2"
"0000462674"	"TFR2"


## 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 = 164
"{{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}}"
"0000040290"	"0"	"50"	"7"	"100228664"	"100228664"	"subst"	"0.000320921"	"00776"	"TFR2_000036"	"g.100228664C>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	""	"unaffected daughter carries this variant"	"Germline"	""	"rs202221581"	"0"	""	""	"g.100631041C>T"	""	"VUS"	""
"0000040292"	"3"	"70"	"7"	"100225022"	"100225033"	"del"	"0"	"00776"	"TFR2_000002"	"g.100225022_100225033del"	""	"{PMID:Zamani 2012:23018356}"	""	"AVAQ594-597"	""	"Germline"	""	""	"0"	""	""	"g.100627399_100627410del"	""	"likely pathogenic"	""
"0000040293"	"3"	"70"	"7"	"100225022"	"100225033"	"del"	"0"	"00776"	"TFR2_000002"	"g.100225022_100225033del"	""	"{PMID:Hattori 2003:12809944}"	""	""	""	"Germline"	""	"rs80338888"	"0"	""	""	"g.100627399_100627410del"	""	"likely pathogenic"	""
"0000040296"	"0"	"70"	"7"	"100230633"	"100230633"	"subst"	"0.00040219"	"00776"	"TFR2_000007"	"g.100230633G>C"	""	"{PMID:Del-Castillo-Rueda 2011:21770687}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633010G>C"	""	"likely pathogenic"	""
"0000040297"	"1"	"70"	"7"	"100228596"	"100228596"	"subst"	"0"	"00776"	"TFR2_000009"	"g.100228596G>A"	""	"{PMID:Gerolami 2008:18450729}, {DOI:Gerolami 2008:10.3324/haematol.12884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100630973G>A"	""	"likely pathogenic"	""
"0000040298"	"2"	"70"	"7"	"100225599"	"100225599"	"subst"	"8.12988E-6"	"00776"	"TFR2_000008"	"g.100225599T>C"	""	"{PMID:Gerolami 2008:18450729}, {DOI:Gerolami 2008:10.3324/haematol.12884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627976T>C"	""	"likely pathogenic"	""
"0000040299"	"3"	"70"	"7"	"100218512"	"100218512"	"subst"	"4.47671E-5"	"00776"	"TFR2_000006"	"g.100218512C>T"	""	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100620889C>T"	""	"likely pathogenic"	""
"0000040301"	"21"	"70"	"7"	"100218512"	"100218512"	"subst"	"4.47671E-5"	"00776"	"TFR2_000006"	"g.100218512C>T"	""	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100620889C>T"	""	"likely pathogenic"	""
"0000040302"	"10"	"90"	"7"	"100225451"	"100225451"	"subst"	"0"	"00776"	"TFR2_000035"	"g.100225451T>C"	""	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627828T>C"	""	"pathogenic"	""
"0000040303"	"11"	"90"	"7"	"100229755"	"100229755"	"subst"	"0"	"00776"	"TFR2_000033"	"g.100229755G>A"	""	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100632132G>A"	""	"pathogenic"	""
"0000040304"	"21"	"90"	"7"	"100224508"	"100224508"	"subst"	"4.99002E-5"	"00776"	"TFR2_000034"	"g.100224508G>A"	""	"{PMID:Joshi 2015:26029709}, {DOI:Joshi 2015:10.1002/mgg3.136}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100626885G>A"	""	"pathogenic"	""
"0000046539"	"1"	"70"	"7"	"100228596"	"100228596"	"subst"	"0"	"00557"	"TFR2_000009"	"g.100228596G>A"	""	"{PMID:Lee 2006:16424658}"	"CviAII+;FatI+;NlaIII+"	""	""	"Unknown"	"?"	""	"0"	""	""	"g.100630973G>A"	""	"likely pathogenic"	""
"0000046540"	"2"	"50"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"00557"	"TFR2_000004"	"g.100226902C>T"	""	"{PMID:Lee 2006:16424658}"	"BsgI+;HpyCH4V+;AciI-"	""	""	"Unknown"	"?"	""	"0"	""	""	"g.100629279C>T"	""	"VUS"	""
"0000046541"	"1"	"50"	"7"	"100218512"	"100218512"	"subst"	"4.47671E-5"	"00557"	"TFR2_000006"	"g.100218512C>T"	""	"{PMID:Lee 2006:16424658}"	"AciI-;FauI-"	""	""	"Unknown"	"?"	"rs80338891"	"0"	""	""	"g.100620889C>T"	""	"VUS"	""
"0000046761"	"0"	"90"	"7"	"100225022"	"100225033"	"del"	"0"	"00815"	"TFR2_000002"	"g.100225022_100225033del"	""	""	""	"1861_1872del12"	""	"Germline"	"yes"	"rs80338888"	"0"	""	""	"g.100627399_100627410del"	""	"pathogenic"	""
"0000046762"	"0"	"90"	"7"	"100224482"	"100224483"	"ins"	"0"	"00815"	"TFR2_000037"	"g.100224482_100224483insC"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100626859_100626860insC"	""	"pathogenic"	""
"0000046763"	"0"	"70"	"7"	"100238801"	"100238801"	"dup"	"0"	"00815"	"TFR2_000012"	"g.100238801dup"	""	""	""	"88_89insC"	""	"Germline"	"yes"	"rs80338877"	"0"	""	""	"g.100641178dup"	""	"likely pathogenic"	""
"0000046765"	"0"	"90"	"7"	"96604133"	"96604133"	"subst"	"0"	"00815"	"TFR2_000038"	"g.96604133G>A"	""	""	""	"IVS13+1G>A"	"Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000046766"	"3"	"90"	"7"	"100224489"	"100224489"	"subst"	"0"	"00815"	"TFR2_000039"	"g.100224489C>G"	""	""	""	"2033C>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.100626866C>G"	""	"pathogenic"	""
"0000047790"	"3"	"90"	"7"	"100225917"	"100225917"	"subst"	"0.000711828"	"00557"	"TFR2_000001"	"g.100225917C>T"	""	"{PMID:Hsiao 2007:17562347}"	"AciI;FauI"	"13528G>A (Arg481His)"	""	"Unknown"	""	"rs80338885"	"0"	""	""	"g.100628294C>T"	""	"pathogenic"	""
"0000047791"	"3"	"99"	"7"	"100225022"	"100225033"	"del"	"0"	"01157"	"TFR2_000002"	"g.100225022_100225033del"	""	"{PMID:Girelli 2002:11984516}"	"BceAI;BslI"	"1780-1791del (AVAQ594-597del)"	""	"Germline"	""	""	"0"	""	""	"g.100627399_100627410del"	""	"pathogenic"	""
"0000047792"	"3"	"99"	"7"	"100231035"	"100231035"	"subst"	"8.65314E-6"	"01157"	"TFR2_000003"	"g.100231035T>C"	""	"{PMID:Pelucchi 2009:19144662}, {DOI:Pelucchi 2009:10.3324/haematol.13576}"	"BsaJI;BtgI"	""	""	"Unknown"	""	""	"0"	""	""	"g.100633412T>C"	""	"pathogenic"	""
"0000047793"	"1"	"73"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"00557"	"TFR2_000004"	"g.100226902C>T"	""	"{PMID:Hofmann 2002:12150153}, {OMIM604720:0004}"	"BsgI;AvaII"	"1391G>A"	"proposed as a potential modifier of HFE p.(C282Y) homozygous haemochromatosis"	"Germline"	""	"rs41303501"	"0"	""	""	"g.100629279C>T"	""	"likely pathogenic"	""
"0000047794"	"21"	"73"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"00557"	"TFR2_000004"	"g.100226902C>T"	""	"{PMID:Hofmann 2002:12150153}, {OMIM604720:0004}"	"BsgI;AvaII"	"1391G>A"	""	"Germline"	""	"rs41303501"	"0"	""	""	"g.100629279C>T"	""	"likely pathogenic"	""
"0000047795"	"21"	"73"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"00557"	"TFR2_000004"	"g.100226902C>T"	""	"{PMID:Hofmann 2002:12150153}, {OMIM604720:0004}"	"BsgI;AvaII"	"1391G>A"	""	"Germline"	""	"rs41303501"	"0"	""	""	"g.100629279C>T"	""	"likely pathogenic"	""
"0000047796"	"21"	"73"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"00557"	"TFR2_000004"	"g.100226902C>T"	""	"{PMID:Hofmann 2002:12150153}, {OMIM604720:0004}"	"BsgI;AvaII"	"1391G>A"	"does not carry HFE:C282Y"	"Germline"	""	"rs41303501"	"0"	""	""	"g.100629279C>T"	""	"likely pathogenic"	""
"0000047798"	"1"	"10"	"7"	"100238661"	"100238661"	"subst"	"0.000437349"	"00006"	"TFR2_000005"	"g.100238661G>A"	"1/89 cases"	"{PMID:Mattman 2002:12130528}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100641038G>A"	""	"benign"	""
"0000047800"	"1"	"50"	"7"	"100230633"	"100230633"	"subst"	"0.00040219"	"00006"	"TFR2_000007"	"g.100230633G>C"	""	"{PMID:Mendes 2009:18762941}"	""	""	""	"Unknown"	""	"rs151198873"	"0"	""	""	"g.100633010G>C"	""	"VUS"	""
"0000047801"	"1"	"90"	"7"	"100225599"	"100225599"	"subst"	"8.12988E-6"	"00006"	"TFR2_000008"	"g.100225599T>C"	""	"{PMID:Gerolami 2008:18450729}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100627976T>C"	""	"pathogenic"	""
"0000047803"	"0"	"90"	"7"	"100228596"	"100228596"	"subst"	"0"	"00006"	"TFR2_000009"	"g.100228596G>A"	""	"{PMID:Gerolami 2008:18450729}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100630973G>A"	""	"pathogenic"	""
"0000047804"	"1"	"30"	"7"	"100230864"	"100230864"	"subst"	"0.0174608"	"00006"	"TFR2_000010"	"g.100230864G>C"	""	"{PMID:Koyama 2005:15749661}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100633241G>C"	""	"likely benign"	""
"0000047805"	"1"	"10"	"7"	"100230864"	"100230864"	"subst"	"0.0174608"	"00006"	"TFR2_000010"	"g.100230864G>C"	""	"{PMID:Mendes 2009:18762941}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100633241G>C"	""	"benign"	""
"0000047806"	"1"	"10"	"7"	"100230864"	"100230864"	"subst"	"0.0174608"	"00006"	"TFR2_000010"	"g.100230864G>C"	"1/89 cases"	"{PMID:Mattman 2002:12130528}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100633241G>C"	""	"benign"	""
"0000047807"	"3"	"30"	"7"	"100230864"	"100230864"	"subst"	"0.0174608"	"00006"	"TFR2_000010"	"g.100230864G>C"	""	"{PMID:Koyama 2005:15749661}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100633241G>C"	""	"likely benign"	""
"0000047808"	"3"	"90"	"7"	"100230723"	"100230723"	"subst"	"0"	"00006"	"TFR2_000011"	"g.100230723G>C"	""	"{PMID:Camaschella 2000:10802645}, {DOI:Camaschella 2000:10.1038/75534}, {PMID:Roetto 2001:11313241}, {OMIM604720:0001}"	"MaeI+"	""	"mapped by linkage, LOD score 4.09; no RNA transcript detected"	"Germline"	"yes"	"rs80338880"	"0"	""	""	"g.100633100G>C"	""	"pathogenic"	""
"0000047809"	"3"	"90"	"7"	"100230723"	"100230723"	"subst"	"0"	"00006"	"TFR2_000011"	"g.100230723G>C"	""	"{PMID:Camaschella 2000:10802645}, {DOI:Camaschella 2000:10.1038/75534}, {OMIM604720:0001}"	"MaeI+"	""	"no RNA transcript detected"	"Germline"	"yes"	"rs80338880"	"0"	""	""	"g.100633100G>C"	""	"pathogenic"	""
"0000047810"	"3"	"90"	"7"	"100238801"	"100238801"	"dup"	"0"	"00006"	"TFR2_000012"	"g.100238801dup"	""	"{PMID:Roetto 2001:11313241}, {DOI:Roetto 2001:10.1182/blood.V97.9.2555}, {OMIM604720:0002}"	""	"84-88insC"	"homozygosity mapping; not in 100 control chromosomes"	"Germline"	"yes"	"rs80338877"	"0"	""	""	"g.100641178dup"	""	"pathogenic"	""
"0000047811"	"3"	"90"	"7"	"100231138"	"100231138"	"subst"	"8.48954E-6"	"00006"	"TFR2_000013"	"g.100231138A>T"	""	"{PMID:Roetto 2001:11313241}, {DOI:Roetto 2001:10.1182/blood.V97.9.2555}, {OMIM604720:0003}"	""	""	""	"Germline"	"yes"	"rs80338877"	"0"	""	""	"g.100633515A>T"	""	"pathogenic"	""
"0000047812"	"3"	"90"	"7"	"100224453"	"100224453"	"subst"	"0"	"01157"	"TFR2_000014"	"g.100224453T>G"	""	"{PMID:Mattman 2002:12130528}, {DOI:Mattman 2002:10.1182/blood-2002-01-0133}, {OMIM604720:0005}"	"BsiEI;EaeI"	""	"disrupt a key binding site for diferric transferrin"	"Germline"	""	"rs80338889"	"0"	""	""	"g.100626830T>G"	""	"pathogenic"	""
"0000047813"	"1"	"10"	"7"	"100218631"	"100218631"	"subst"	"0.0205652"	"00006"	"TFR2_000015"	"g.100218631C>T"	"4/89 cases"	"{PMID:Mattman 2002:12130528}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100621008C>T"	""	"benign"	""
"0000047814"	"3"	"90"	"7"	"100225386"	"100225386"	"del"	"0"	"00006"	"TFR2_000016"	"g.100225386del"	""	"{PMID:Koyama 2005:15749661}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100627763del"	""	"pathogenic"	""
"0000047815"	"3"	"70"	"7"	"100218750"	"100218750"	"subst"	"8.13101E-6"	"00006"	"TFR2_000017"	"g.100218750C>T"	""	"{PMID:Biasiotto 2008:18245657}"	""	"IVS17+5636G>A"	""	"Unknown"	""	""	"0"	""	""	"g.100621127C>T"	""	"likely pathogenic"	""
"0000047816"	"3"	"90"	"7"	"100225851"	"100225851"	"subst"	"0"	"00006"	"TFR2_000018"	"g.100225851A>C"	""	"{PMID:Koyama 2005:15749661}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100628228A>C"	""	"pathogenic"	""
"0000047817"	"1"	"50"	"7"	"100226936"	"100226936"	"subst"	"0"	"00006"	"TFR2_000019"	"g.100226936C>T"	""	"{PMID:Biasiotto 2008:18245657}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100629313C>T"	""	"VUS"	""
"0000047818"	"1"	"70"	"7"	"100228523"	"100228523"	"subst"	"0.0001789"	"00006"	"TFR2_000020"	"g.100228523C>T"	""	"{PMID:Del Castillo-Rueda 2011:21524769}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100630900C>T"	""	"likely pathogenic"	""
"0000047819"	"0"	"70"	"7"	"100228550"	"100228552"	"del"	"0"	"00006"	"TFR2_000021"	"g.100228550_100228552del"	""	"{PMID:Biasiotto 2008:18245657}"	""	"c.1231-3del"	""	"Germline"	""	""	"0"	""	""	"g.100630927_100630929del"	""	"likely pathogenic"	""
"0000047820"	"3"	"90"	"7"	"100229722"	"100229722"	"subst"	"0"	"00006"	"TFR2_000022"	"g.100229722G>A"	""	"{PMID:Pietrangelo 2005:15685557}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100632099G>A"	""	"pathogenic"	""
"0000047821"	"1"	"10"	"7"	"100228655"	"100228655"	"subst"	"0.002662"	"00006"	"TFR2_000023"	"g.100228655G>T"	"3/89 cases"	"{PMID:Mattman 2002:12130528}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100631032G>T"	""	"benign"	""
"0000047822"	"3"	"90"	"7"	"100238469"	"100238469"	"subst"	"1.62562E-5"	"00006"	"TFR2_000025"	"g.100238469G>A"	""	"{PMID:Le Gac 2004:15147384}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100640846G>A"	""	"pathogenic"	""
"0000047823"	"1"	"50"	"7"	"100238821"	"100238821"	"subst"	"8.17807E-5"	"00006"	"TFR2_000026"	"g.100238821C>T"	""	"{PMID:Biasiotto 2003:14633868}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100641198C>T"	""	"VUS"	""
"0000047824"	"1"	"50"	"7"	"100238821"	"100238821"	"subst"	"8.17807E-5"	"00006"	"TFR2_000026"	"g.100238821C>T"	""	"{PMID:Biasiotto 2003:14633868}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100641198C>T"	""	"VUS"	""
"0000047825"	"1"	"50"	"7"	"100238821"	"100238821"	"subst"	"8.17807E-5"	"00006"	"TFR2_000026"	"g.100238821C>T"	""	"{PMID:Biasiotto 2003:14633868}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100641198C>T"	""	"VUS"	""
"0000047826"	"1"	"10"	"7"	"100238260"	"100238260"	"subst"	"0"	"00006"	"TFR2_000027"	"g.100238260G>T"	"1/50 controls"	"{PMID:Biasiotto 2008:18245657}"	""	"IVS3+49C>A"	""	"Unknown"	""	""	"0"	""	""	"g.100640637G>T"	""	"benign"	""
"0000047827"	"1"	"30"	"7"	"100238788"	"100238788"	"subst"	"0"	"00006"	"TFR2_000028"	"g.100238788G>T"	"1/50 controls"	"{PMID:Biasiotto 2008:18245657}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.100641165G>T"	""	"likely benign"	""
"0000047828"	"1"	"50"	"7"	"100238589"	"100238589"	"subst"	"2.88569E-5"	"00006"	"TFR2_000029"	"g.100238589C>T"	""	"{PMID:Biasiotto 2003:14633868}"	""	"IVS3+10G>A"	""	"Unknown"	""	""	"0"	""	""	"g.100640966C>T"	""	"VUS"	""
"0000047829"	"1"	"50"	"7"	"100238584"	"100238584"	"subst"	"0.000386869"	"00006"	"TFR2_000030"	"g.100238584G>A"	""	"{PMID:Biasiotto 2003:14633868}"	""	"IVS3+15C>T"	""	"Unknown"	""	""	"0"	""	""	"g.100640961G>A"	""	"VUS"	""
"0000047830"	"1"	"50"	"7"	"100230755"	"100230755"	"subst"	"0.00090275"	"00006"	"TFR2_000031"	"g.100230755A>T"	""	"{PMID:Biasiotto 2003:14633868}"	""	"IVS5-9T>A"	""	"Germline"	""	""	"0"	""	""	"g.100633132A>T"	""	"VUS"	""
"0000047831"	"1"	"30"	"7"	"100230755"	"100230755"	"subst"	"0.00090275"	"00006"	"TFR2_000031"	"g.100230755A>T"	""	"{PMID:Mendes 2009:18762941}"	""	"IVS5-9T>A"	""	"Unknown"	""	""	"0"	""	""	"g.100633132A>T"	""	"likely benign"	""
"0000047832"	"1"	"50"	"7"	"100230770"	"100230770"	"subst"	"0.00180079"	"00006"	"TFR2_000032"	"g.100230770C>G"	""	"{PMID:Biasiotto 2003:14633868}"	""	"IVS5-24G>C"	""	"Unknown"	""	""	"0"	""	""	"g.100633147C>G"	""	"VUS"	""
"0000047833"	"1"	"50"	"7"	"100230770"	"100230770"	"subst"	"0.00180079"	"00006"	"TFR2_000032"	"g.100230770C>G"	""	"{PMID:Biasiotto 2003:14633868}"	""	"IVS5-24G>C"	""	"Unknown"	""	""	"0"	""	""	"g.100633147C>G"	""	"VUS"	""
"0000170769"	"21"	"50"	"7"	"100228655"	"100228655"	"subst"	"0.002662"	"00006"	"TFR2_000023"	"g.100228655G>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100631032G>T"	""	"VUS"	""
"0000170770"	"11"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"00006"	"TFR2_000040"	"g.100225847C>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	"E491E"	""	"Germline"	""	""	"0"	""	""	"g.100628224C>T"	""	"VUS"	""
"0000170772"	"0"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"00006"	"TFR2_000040"	"g.100225847C>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100628224C>T"	""	"VUS"	""
"0000170774"	"0"	"50"	"7"	"100228655"	"100228655"	"subst"	"0.002662"	"00006"	"TFR2_000023"	"g.100228655G>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100631032G>T"	""	"VUS"	""
"0000170776"	"21"	"50"	"7"	"100228655"	"100228655"	"subst"	"0.002662"	"00006"	"TFR2_000023"	"g.100228655G>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100631032G>T"	""	"VUS"	""
"0000170777"	"0"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"00006"	"TFR2_000040"	"g.100225847C>T"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100628224C>T"	""	"VUS"	""
"0000170781"	"0"	"50"	"7"	"100224437"	"100224437"	"subst"	"0.00673414"	"00006"	"TFR2_000041"	"g.100224437C>G"	""	"{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}"	""	"S695S"	""	"Germline"	""	"rs150303632"	"0"	""	""	"g.100626814C>G"	""	"VUS"	""
"0000170786"	"3"	"90"	"7"	"100231138"	"100231138"	"subst"	"8.48954E-6"	"00006"	"TFR2_000013"	"g.100231138A>T"	""	"{PMID:Majore 2006:16923517}"	""	""	"not in 400 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.100633515A>T"	""	"pathogenic"	""
"0000170788"	"3"	"90"	"7"	"100230723"	"100230723"	"subst"	"0"	"00006"	"TFR2_000011"	"g.100230723G>C"	""	"{PMID:Piperno 2004:15020277}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633100G>C"	""	"pathogenic"	""
"0000170789"	"3"	"90"	"7"	"100230723"	"100230723"	"subst"	"0"	"00006"	"TFR2_000011"	"g.100230723G>C"	""	"{PMID:Piperno 2004:15020277}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633100G>C"	""	"pathogenic"	""
"0000170791"	"1"	"90"	"7"	"100226978"	"100226978"	"subst"	"8.12447E-6"	"00006"	"TFR2_000042"	"g.100226978C>T"	""	"{PMID:Majore 2013:22981443}"	""	""	"not in 300 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100629355C>T"	""	"pathogenic"	""
"0000170792"	"2"	"90"	"7"	"100225722"	"100225722"	"subst"	"0"	"00006"	"TFR2_000043"	"g.100225722T>C"	""	"{PMID:Majore 2013:22981443}"	""	""	"not in 300 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100628099T>C"	""	"pathogenic"	""
"0000170793"	"3"	"70"	"7"	"100218667"	"100218667"	"subst"	"0"	"00006"	"TFR2_000044"	"g.100218667G>A"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100621044G>A"	""	"likely pathogenic"	""
"0000170794"	"1"	"90"	"7"	"100225041"	"100225041"	"dup"	"0"	"00006"	"TFR2_000045"	"g.100225041dup"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	"1841_1842insG"	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100627418dup"	""	"pathogenic"	""
"0000170795"	"1"	"70"	"7"	"100225540"	"100225544"	"delins"	"0"	"00006"	"TFR2_000046"	"g.100225540_100225544delinsGCTCTTGCCTG"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100627917_100627921delinsGCTCTTGCCTG"	""	"likely pathogenic"	""
"0000170796"	"1"	"10"	"7"	"100225031"	"100225031"	"subst"	"0.176378"	"00006"	"TFR2_000047"	"g.100225031G>A"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627408G>A"	""	"benign"	""
"0000170797"	"1"	"50"	"7"	"100218631"	"100218631"	"subst"	"0.0205652"	"00006"	"TFR2_000015"	"g.100218631C>T"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	"variant possible phenotype modifier"	"Germline"	""	""	"0"	""	""	"g.100621008C>T"	""	"VUS"	""
"0000170798"	"1"	"50"	"7"	"100228664"	"100228664"	"subst"	"0.000320921"	"00006"	"TFR2_000036"	"g.100228664C>T"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100631041C>T"	""	"VUS"	""
"0000170799"	"1"	"50"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"00006"	"TFR2_000004"	"g.100226902C>T"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	"variant possible disease modifier"	"Germline"	""	""	"0"	""	""	"g.100629279C>T"	""	"VUS"	""
"0000170800"	"1"	"90"	"7"	"100231035"	"100231035"	"subst"	"8.65314E-6"	"00006"	"TFR2_000003"	"g.100231035T>C"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633412T>C"	""	"pathogenic"	""
"0000170801"	"1"	"90"	"7"	"100238707"	"100238707"	"subst"	"0"	"00006"	"TFR2_000048"	"g.100238707C>A"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100641084C>A"	""	"pathogenic"	""
"0000170802"	"1"	"90"	"7"	"100238469"	"100238469"	"subst"	"1.62562E-5"	"00006"	"TFR2_000025"	"g.100238469G>A"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100640846G>A"	""	"pathogenic"	""
"0000170803"	"1"	"90"	"7"	"100225022"	"100225033"	"del"	"0"	"00006"	"TFR2_000002"	"g.100225022_100225033del"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627399_100627410del"	""	"pathogenic"	""
"0000170804"	"1"	"90"	"7"	"100231138"	"100231138"	"subst"	"8.48954E-6"	"00006"	"TFR2_000013"	"g.100231138A>T"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633515A>T"	""	"pathogenic"	""
"0000170805"	"1"	"10"	"7"	"100238584"	"100238584"	"subst"	"0.000386869"	"00006"	"TFR2_000030"	"g.100238584G>A"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	"241+15C>T / IVS2+15C>T"	""	"Germline"	""	""	"0"	""	""	"g.100640961G>A"	""	"benign"	""
"0000170806"	"1"	"10"	"7"	"100230770"	"100230770"	"subst"	"0.00180079"	"00006"	"TFR2_000032"	"g.100230770C>G"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633147C>G"	""	"benign"	""
"0000170807"	"1"	"10"	"7"	"100224878"	"100224878"	"subst"	"0.00180523"	"00006"	"TFR2_000049"	"g.100224878C>G"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627255C>G"	""	"benign"	""
"0000170808"	"1"	"10"	"7"	"100225487"	"100225487"	"subst"	"0"	"00006"	"TFR2_000050"	"g.100225487G>C"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	"1537-44C>G /IVS13-44C>G"	""	"Germline"	""	""	"0"	""	""	"g.100627864G>C"	""	"benign"	""
"0000170809"	"1"	"10"	"7"	"100225429"	"100225429"	"subst"	"0.000162429"	"00006"	"TFR2_000051"	"g.100225429G>A"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627806G>A"	""	"benign"	""
"0000170810"	"1"	"10"	"7"	"100238487"	"100238487"	"subst"	"0"	"00006"	"TFR2_000052"	"g.100238487G>C"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100640864G>C"	""	"benign"	""
"0000170811"	"1"	"10"	"7"	"100230644"	"100230644"	"subst"	"0"	"00006"	"TFR2_000053"	"g.100230644C>G"	""	"{PMID:Radio 2014:24055163}, {DOI:Radio 2014:10.1016/j.bcmd.2013.08.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633021C>G"	""	"benign"	""
"0000170812"	"3"	"90"	"7"	"100224489"	"100224489"	"subst"	"0"	"00006"	"TFR2_000039"	"g.100224489C>G"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100626866C>G"	""	"pathogenic"	""
"0000170815"	"3"	"90"	"7"	"100228547"	"100228547"	"subst"	"1.21958E-5"	"00006"	"TFR2_000054"	"g.100228547T>A"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100630924T>A"	""	"pathogenic"	""
"0000170816"	"3"	"90"	"7"	"100226978"	"100226978"	"subst"	"8.12447E-6"	"00006"	"TFR2_000042"	"g.100226978C>T"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100629355C>T"	""	"pathogenic"	""
"0000170817"	"1"	"90"	"7"	"100238592"	"100238633"	"del"	"0"	"00006"	"TFR2_000055"	"g.100238592_100238633del"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100640969_100641010del"	""	"pathogenic"	""
"0000170818"	"2"	"90"	"7"	"100218683"	"100218683"	"subst"	"0"	"00006"	"TFR2_000056"	"g.100218683C>T"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100621060C>T"	""	"pathogenic"	""
"0000170819"	"1"	"90"	"7"	"100224410"	"100224410"	"dup"	"0"	"00006"	"TFR2_000057"	"g.100224410dup"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100626787dup"	""	"pathogenic"	""
"0000170820"	"2"	"90"	"7"	"100218512"	"100218512"	"subst"	"4.47671E-5"	"00006"	"TFR2_000006"	"g.100218512C>T"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100620889C>T"	""	"pathogenic"	""
"0000170821"	"1"	"90"	"7"	"100218512"	"100218512"	"subst"	"4.47671E-5"	"00006"	"TFR2_000006"	"g.100218512C>T"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100620889C>T"	""	"pathogenic"	""
"0000170822"	"2"	"50"	"7"	"100226936"	"100226936"	"subst"	"0"	"00006"	"TFR2_000019"	"g.100226936C>T"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100629313C>T"	""	"VUS"	""
"0000170823"	"1"	"90"	"7"	"100218698"	"100218698"	"subst"	"0"	"00006"	"TFR2_000058"	"g.100218698G>A"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100621075G>A"	""	"pathogenic"	""
"0000170824"	"2"	"90"	"7"	"100218543"	"100218543"	"subst"	"8.1489E-6"	"00006"	"TFR2_000059"	"g.100218543C>T"	""	"{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100620920C>T"	""	"pathogenic"	""
"0000170827"	"1"	"70"	"7"	"100231088"	"100231088"	"subst"	"0"	"00006"	"TFR2_000060"	"g.100231088C>T"	""	"{PMID:Barton 2008:17726683}, {DOI:Barton 2008:10.1002/ajh.21053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100633465C>T"	""	"likely pathogenic"	""
"0000311796"	"0"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"02325"	"TFR2_000040"	"g.100225847C>T"	""	""	""	"TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100628224C>T"	""	"VUS"	""
"0000311797"	"0"	"30"	"7"	"100218714"	"100218714"	"subst"	"0.0011544"	"02325"	"TFR2_000061"	"g.100218714T>C"	""	""	""	"TFR2(NM_003227.4):c.2172A>G (p.P724=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100621091T>C"	""	"likely benign"	""
"0000311798"	"0"	"50"	"7"	"100238650"	"100238650"	"subst"	"1.27274E-5"	"02325"	"TFR2_000064"	"g.100238650G>A"	""	""	""	"TFR2(NM_003227.4):c.235C>T (p.R79W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100641027G>A"	""	"VUS"	""
"0000311799"	"0"	"30"	"7"	"100238335"	"100238335"	"subst"	"0.000662089"	"02325"	"TFR2_000063"	"g.100238335C>T"	""	""	""	"TFR2(NM_003227.4):c.447G>A (p.G149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100640712C>T"	""	"likely benign"	""
"0000316487"	"0"	"50"	"7"	"100225870"	"100225870"	"subst"	"6.90484E-5"	"01943"	"TFR2_000062"	"g.100225870C>T"	""	""	""	"TFR2(NM_003227.3):c.1450G>A (p.V484M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100628247C>T"	""	"VUS"	""
"0000346009"	"0"	"50"	"7"	"100244260"	"100244260"	"subst"	"0"	"02327"	"ACTL6B_000002"	"g.100244260C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100646637C>T"	""	"VUS"	""
"0000346647"	"0"	"10"	"7"	"100230864"	"100230864"	"subst"	"0.0174608"	"02327"	"TFR2_000010"	"g.100230864G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100633241G>C"	""	"benign"	""
"0000346735"	"0"	"50"	"7"	"100226921"	"100226921"	"subst"	"8.93394E-5"	"02327"	"TFR2_000065"	"g.100226921T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100629298T>C"	""	"VUS"	""
"0000530031"	"0"	"30"	"7"	"100218519"	"100218519"	"subst"	"0.000256506"	"01943"	"TFR2_000066"	"g.100218519C>T"	""	""	""	"TFR2(NM_003227.3):c.2367G>A (p.A789=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100620896C>T"	""	"likely benign"	""
"0000530032"	"0"	"30"	"7"	"100218631"	"100218631"	"subst"	"0.0205652"	"02327"	"TFR2_000015"	"g.100218631C>T"	""	""	""	"TFR2(NM_001206855.1):c.1742G>A (p.(Arg581His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100621008C>T"	""	"likely benign"	""
"0000530033"	"0"	"50"	"7"	"100224387"	"100224387"	"subst"	"0.000357759"	"01943"	"TFR2_000067"	"g.100224387C>T"	""	""	""	"TFR2(NM_003227.3):c.2135G>A (p.R712Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100626764C>T"	""	"VUS"	""
"0000530034"	"0"	"50"	"7"	"100224387"	"100224387"	"subst"	"0.000357759"	"02327"	"TFR2_000067"	"g.100224387C>T"	""	""	""	"TFR2(NM_003227.3):c.2135G>A (p.R712Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100626764C>T"	""	"VUS"	""
"0000530035"	"0"	"30"	"7"	"100224998"	"100224998"	"subst"	"1.30368E-5"	"01943"	"TFR2_000068"	"g.100224998C>T"	""	""	""	"TFR2(NM_003227.3):c.1884G>A (p.Q628=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100627375C>T"	""	"likely benign"	""
"0000530036"	"0"	"10"	"7"	"100225031"	"100225031"	"subst"	"0.176378"	"02327"	"TFR2_000047"	"g.100225031G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100627408G>A"	""	"benign"	""
"0000530037"	"0"	"50"	"7"	"100228523"	"100228523"	"subst"	"0.0001789"	"02327"	"TFR2_000020"	"g.100228523C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100630900C>T"	""	"VUS"	""
"0000530038"	"0"	"50"	"7"	"100228664"	"100228664"	"subst"	"0.000320921"	"01943"	"TFR2_000036"	"g.100228664C>T"	""	""	""	"TFR2(NM_003227.3):c.1118G>A (p.G373D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100631041C>T"	""	"VUS"	""
"0000530039"	"0"	"50"	"7"	"100229756"	"100229756"	"subst"	"8.1217E-6"	"02327"	"TFR2_000069"	"g.100229756G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100632133G>C"	""	"VUS"	""
"0000530040"	"0"	"50"	"7"	"100238776"	"100238776"	"subst"	"0"	"01804"	"ACTL6B_000003"	"g.100238776C>T"	""	""	""	"TFR2(NM_003227.3):c.109G>A (p.(Glu37Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100641153C>T"	""	"VUS"	""
"0000530042"	"0"	"50"	"7"	"100244378"	"100244378"	"subst"	"0"	"02327"	"ACTL6B_000005"	"g.100244378C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100646755C>A"	""	"VUS"	""
"0000530043"	"0"	"50"	"7"	"100245102"	"100245102"	"subst"	"0"	"02327"	"ACTL6B_000006"	"g.100245102G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100647479G>A"	""	"VUS"	""
"0000530044"	"0"	"30"	"7"	"100245135"	"100245135"	"subst"	"4.20073E-6"	"01804"	"ACTL6B_000007"	"g.100245135G>A"	""	""	""	"ACTL6B(NM_016188.4):c.691C>T (p.(Pro231Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100647512G>A"	""	"likely benign"	""
"0000610563"	"0"	"50"	"7"	"100228655"	"100228655"	"subst"	"0.002662"	"02327"	"TFR2_000023"	"g.100228655G>T"	""	""	""	"TFR2(NM_003227.4):c.1127C>A (p.A376D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100631032G>T"	""	"VUS"	""
"0000610564"	"0"	"50"	"7"	"100228655"	"100228655"	"subst"	"0.002662"	"02325"	"TFR2_000023"	"g.100228655G>T"	""	""	""	"TFR2(NM_003227.4):c.1127C>A (p.A376D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100631032G>T"	""	"VUS"	""
"0000652073"	"1"	"30"	"7"	"100218631"	"100218631"	"subst"	"0.0205652"	"03575"	"TFR2_000015"	"g.100218631C>T"	"47/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"47 heterozygous; {DB:CLININrs41295942}"	"Germline"	""	"rs41295942"	"0"	""	""	"g.100621008C>T"	""	"likely benign"	""
"0000655677"	"0"	"30"	"7"	"100225193"	"100225193"	"subst"	"0.00704855"	"02327"	"TFR2_000070"	"g.100225193G>A"	""	""	""	"TFR2(NM_001206855.1):c.1254+7C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100627570G>A"	""	"likely benign"	""
"0000669938"	"3"	"30"	"7"	"100218631"	"100218631"	"subst"	"0.0205652"	"03575"	"TFR2_000015"	"g.100218631C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs41295942}"	"Germline"	""	"rs41295942"	"0"	""	""	"g.100621008C>T"	""	"likely benign"	""
"0000677908"	"0"	"50"	"7"	"100225070"	"100225070"	"subst"	"0.000362083"	"02327"	"TFR2_000071"	"g.100225070A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677909"	"0"	"30"	"7"	"100225834"	"100225834"	"subst"	"0.000288365"	"02327"	"TFR2_000072"	"g.100225834G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677910"	"0"	"30"	"7"	"100226889"	"100226889"	"subst"	"4.06171E-6"	"01943"	"TFR2_000073"	"g.100226889G>A"	""	""	""	"TFR2(NM_003227.3):c.1377C>T (p.S459=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000721146"	"0"	"30"	"7"	"100218631"	"100218631"	"subst"	"0.0205652"	"01804"	"TFR2_000015"	"g.100218631C>T"	""	""	""	"TFR2(NM_001206855.1):c.1742G>A (p.(Arg581His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000721147"	"0"	"30"	"7"	"100225193"	"100225193"	"subst"	"0.00704855"	"01804"	"TFR2_000070"	"g.100225193G>A"	""	""	""	"TFR2(NM_001206855.1):c.1254+7C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000721148"	"0"	"50"	"7"	"100225720"	"100225720"	"subst"	"0.000207171"	"02327"	"TFR2_000074"	"g.100225720C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000721149"	"0"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"01943"	"TFR2_000040"	"g.100225847C>T"	""	""	""	"TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802780"	"0"	"30"	"7"	"100224440"	"100224440"	"subst"	"0"	"01943"	"TFR2_000075"	"g.100224440G>A"	""	""	""	"TFR2(NM_003227.3):c.2082C>T (p.S694=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802781"	"0"	"30"	"7"	"100225900"	"100225900"	"subst"	"1.21878E-5"	"01943"	"TFR2_000076"	"g.100225900T>C"	""	""	""	"TFR2(NM_003227.3):c.1420A>G (p.I474V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802782"	"0"	"30"	"7"	"100229441"	"100229441"	"subst"	"4.07349E-5"	"01943"	"TFR2_000077"	"g.100229441G>A"	""	""	""	"TFR2(NM_003227.3):c.1094C>T (p.S365F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802783"	"0"	"50"	"7"	"100229824"	"100229824"	"subst"	"0"	"01943"	"TFR2_000078"	"g.100229824G>C"	""	""	""	"TFR2(NM_003227.3):c.850-3C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802784"	"0"	"30"	"7"	"100230616"	"100230616"	"subst"	"0"	"01943"	"TFR2_000079"	"g.100230616A>G"	""	""	""	"TFR2(NM_003227.3):c.849+8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000851338"	"0"	"70"	"7"	"100224886"	"100224886"	"subst"	"0"	"01943"	"TFR2_000080"	"g.100224886C>T"	""	""	""	"TFR2(NM_003227.3):c.1995+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000851339"	"0"	"10"	"7"	"100244678"	"100244678"	"subst"	"0.014674"	"02326"	"ACTL6B_000013"	"g.100244678G>A"	""	""	""	"ACTL6B(NM_016188.5):c.852C>T (p.Y284=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000860549"	"0"	"50"	"7"	"100225217"	"100225217"	"subst"	"0"	"02327"	"TFR2_000081"	"g.100225217C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000887511"	"0"	"30"	"7"	"100225358"	"100225358"	"subst"	"0.000341175"	"02327"	"TFR2_000082"	"g.100225358C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000887512"	"0"	"50"	"7"	"100243937"	"100243937"	"subst"	"0"	"02329"	"ACTL6B_000015"	"g.100243937C>T"	""	""	""	"ACTL6B(NM_016188.5):c.1135G>A (p.A379T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912606"	"0"	"70"	"7"	"100218698"	"100218698"	"subst"	"0"	"02327"	"TFR2_000058"	"g.100218698G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000912607"	"0"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"02327"	"TFR2_000040"	"g.100225847C>T"	""	""	""	"TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924593"	"0"	"30"	"7"	"100225218"	"100225218"	"subst"	"0"	"02327"	"TFR2_000083"	"g.100225218G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924594"	"0"	"30"	"7"	"100225871"	"100225871"	"subst"	"0.00140937"	"02327"	"TFR2_000084"	"g.100225871G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924595"	"0"	"90"	"7"	"100240883"	"100240883"	"subst"	"4.06937E-6"	"02325"	"ACTL6B_000019"	"g.100240883G>A"	""	""	""	"ACTL6B(NM_016188.5):c.1267C>T (p.R423*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000931649"	"21"	"70"	"7"	"100224944"	"100224944"	"subst"	"0"	"00006"	"TFR2_000085"	"g.100224944G>C"	""	"{PMID:Sajan 2019:30478137}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100627321G>C"	""	"VUS"	""
"0000948786"	"0"	"90"	"7"	"100218543"	"100218543"	"subst"	"8.1489E-6"	"02327"	"TFR2_000059"	"g.100218543C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000977406"	"0"	"30"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"01804"	"TFR2_000040"	"g.100225847C>T"	""	""	""	"TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977407"	"0"	"30"	"7"	"100229437"	"100229437"	"subst"	"4.07817E-6"	"02327"	"TFR2_000086"	"g.100229437G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000996013"	"0"	"50"	"7"	"100240936"	"100240936"	"subst"	"0"	"01804"	"ACTL6B_000021"	"g.100240936T>A"	""	""	""	"ACTL6B(NM_016188.4):c.1214A>T (p.(Gln405Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000996014"	"0"	"50"	"7"	"100244707"	"100244707"	"subst"	"0"	"01804"	"ACTL6B_000022"	"g.100244707C>T"	""	""	""	"ACTL6B(NM_016188.4):c.823G>A (p.(Val275Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001022201"	"0"	"50"	"7"	"100225847"	"100225847"	"subst"	"0.00315636"	"04796"	"TFR2_000040"	"g.100225847C>T"	""	""	""	""	"no effect on RNA"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100628224C>T"	""	"VUS"	""
"0001025286"	"0"	"50"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"02327"	"TFR2_000004"	"g.100226902C>T"	""	""	""	"TFR2(NM_003227.4):c.1364G>A (p.R455Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035984"	"0"	"50"	"7"	"100226902"	"100226902"	"subst"	"0.00196571"	"02325"	"TFR2_000004"	"g.100226902C>T"	""	""	""	"TFR2(NM_003227.4):c.1364G>A (p.R455Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046085"	"0"	"30"	"7"	"100225112"	"100225112"	"subst"	"0.00639008"	"02327"	"TFR2_000087"	"g.100225112G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001052755"	"0"	"50"	"7"	"100225715"	"100225715"	"subst"	"4.06253E-6"	"02327"	"TFR2_000088"	"g.100225715G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052756"	"0"	"50"	"7"	"100225917"	"100225917"	"subst"	"0.000711828"	"02327"	"TFR2_000001"	"g.100225917C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052757"	"0"	"30"	"7"	"100228496"	"100228496"	"subst"	"0.0041248"	"02327"	"TFR2_000089"	"g.100228496T>C"	""	""	""	""	"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 TFR2
## Count = 164
"{{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}}"
"0000040290"	"00021037"	"50"	"1118"	"0"	"1118"	"0"	"c.1118G>A"	"r.(?)"	"p.(Gly373Asp)"	"9"
"0000040292"	"00021037"	"70"	"1861"	"0"	"1872"	"0"	"c.1861_1872del"	"r.(?)"	"p.(Ala621_Gln624del)"	"16"
"0000040293"	"00021037"	"70"	"1861"	"0"	"1872"	"0"	"c.1861_1872del"	"r.(?)"	"p.(Ala621_Gln624del)"	"16"
"0000040296"	"00021037"	"70"	"840"	"0"	"840"	"0"	"c.840C>G"	"r.(?)"	"p.(Phe280Leu)"	"6"
"0000040297"	"00021037"	"70"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(?)"	"p.(Arg396*)"	"9"
"0000040298"	"00021037"	"70"	"1538"	"-2"	"1538"	"-2"	"c.1538-2A>G"	"r.spl"	"p.?"	"12i"
"0000040299"	"00021037"	"70"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Gly792Arg)"	"18"
"0000040301"	"00021037"	"70"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Gly792Arg)"	"18"
"0000040302"	"00021037"	"90"	"1606"	"-8"	"1606"	"-8"	"c.1606-8A>G"	"r.1605_1606ins1606-7_1606-1"	"p.Val536Profs*13"	"13i"
"0000040303"	"00021037"	"90"	"916"	"0"	"916"	"0"	"c.916C>T"	"r.(?)"	"p.(Gln306*)"	"7"
"0000040304"	"00021037"	"90"	"2014"	"0"	"2014"	"0"	"c.2014C>T"	"r.(?)"	"p.(Gln672*)"	"17"
"0000046539"	"00021037"	"70"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(?)"	"p.(Arg396*)"	"9"
"0000046540"	"00021037"	"50"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	"10"
"0000046541"	"00021037"	"50"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Gly792Arg)"	"18"
"0000046761"	"00021037"	"90"	"1861"	"0"	"1872"	"0"	"c.1861_1872del"	"r.(?)"	"p.(Ala621_Gln624del)"	"16"
"0000046762"	"00021037"	"90"	"2039"	"0"	"2040"	"0"	"c.2039_2040insG"	"r.(?)"	"p.(Asp680Glufs*112)"	"17"
"0000046763"	"00021037"	"90"	"88"	"0"	"88"	"0"	"c.88dup"	"r.(?)"	"p.(Arg30Profs*31)"	"2"
"0000046765"	"00021037"	"90"	"1606"	"1"	"1606"	"1"	"c.1606+1G>A"	"r.spl?"	"p.?"	"13i"
"0000046766"	"00021037"	"90"	"2033"	"0"	"2033"	"0"	"c.2033G>C"	"r.(?)"	"p.(Arg678Pro)"	"17"
"0000047790"	"00021037"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"11"
"0000047791"	"00021037"	"99"	"1861"	"0"	"1872"	"0"	"c.1861_1872del"	"r.(?)"	"p.(Ala621_Gln624del)"	"16"
"0000047792"	"00021037"	"99"	"614"	"4"	"614"	"4"	"c.614+4A>G"	"r.474_614del"	"p.Gln159_Pro205del"	"4i"
"0000047793"	"00021037"	"73"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	"10"
"0000047794"	"00021037"	"73"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	"10"
"0000047795"	"00021037"	"73"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	"10"
"0000047796"	"00021037"	"73"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	"10"
"0000047798"	"00021037"	"10"	"224"	"0"	"224"	"0"	"c.224C>T"	"r.(?)"	"p.(Ala75Val)"	"2"
"0000047800"	"00021037"	"50"	"840"	"0"	"840"	"0"	"c.840C>G"	"r.(?)"	"p.(Phe280Leu)"	"6"
"0000047801"	"00021037"	"90"	"1538"	"-2"	"1538"	"-2"	"c.1538-2A>G"	"r.spl"	"p.?"	"12i"
"0000047803"	"00021037"	"90"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(?)"	"p.(Arg396*)"	"9"
"0000047804"	"00021037"	"30"	"714"	"0"	"714"	"0"	"c.714C>G"	"r.(?)"	"p.(Ile238Met)"	"5"
"0000047805"	"00021037"	"10"	"714"	"0"	"714"	"0"	"c.714C>G"	"r.(?)"	"p.(Ile238Met)"	"5"
"0000047806"	"00021037"	"10"	"714"	"0"	"714"	"0"	"c.714C>G"	"r.(?)"	"p.(Ile238Met)"	"5"
"0000047807"	"00021037"	"30"	"714"	"0"	"714"	"0"	"c.714C>G"	"r.(?)"	"p.(Ile238Met)"	"5"
"0000047808"	"00021037"	"90"	"750"	"0"	"750"	"0"	"c.750C>G"	"r.0"	"p.0"	"6"
"0000047809"	"00021037"	"90"	"750"	"0"	"750"	"0"	"c.750C>G"	"r.0"	"p.0"	"6"
"0000047810"	"00021037"	"90"	"88"	"0"	"88"	"0"	"c.88dup"	"r.88dup"	"p.Arg30Profs*31"	"2"
"0000047811"	"00021037"	"90"	"515"	"0"	"515"	"0"	"c.515T>A"	"r.515u>a"	"p.Met172Lys"	"4"
"0000047812"	"00021037"	"90"	"2069"	"0"	"2069"	"0"	"c.2069A>C"	"r.(?)"	"p.(Gln690Pro)"	"17"
"0000047813"	"00021037"	"10"	"2255"	"0"	"2255"	"0"	"c.2255G>A"	"r.(?)"	"p.(Arg752His)"	"18"
"0000047814"	"00021037"	"90"	"1665"	"0"	"1665"	"0"	"c.1665del"	"r.(?)"	"p.(Ser556Alafs*6)"	"14"
"0000047815"	"00021037"	"70"	"2137"	"-1"	"2137"	"-1"	"c.2137-1G>A"	"r.spl"	"p.?"	"17i"
"0000047816"	"00021037"	"90"	"1469"	"0"	"1469"	"0"	"c.1469T>G"	"r.(?)"	"p.(Leu490Arg)"	"11"
"0000047817"	"00021037"	"50"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Ala444Thr)"	"10"
"0000047818"	"00021037"	"70"	"1259"	"0"	"1259"	"0"	"c.1259G>A"	"r.(?)"	"p.(Arg420His)"	"9"
"0000047819"	"00021037"	"70"	"1235"	"0"	"1237"	"0"	"c.1235_1237del"	"r.(?)"	"p.(Asn412del)"	"9"
"0000047820"	"00021037"	"90"	"949"	"0"	"949"	"0"	"c.949C>T"	"r.(?)"	"p.(Gln317*)"	"7"
"0000047821"	"00021037"	"10"	"1127"	"0"	"1127"	"0"	"c.1127C>A"	"r.(?)"	"p.(Ala376Asp)"	"9"
"0000047822"	"00021037"	"90"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105*)"	"3"
"0000047823"	"00021037"	"50"	"64"	"0"	"64"	"0"	"c.64G>A"	"r.(?)"	"p.(Val22Ile)"	"2"
"0000047824"	"00021037"	"50"	"64"	"0"	"64"	"0"	"c.64G>A"	"r.(?)"	"p.(Val22Ile)"	"2"
"0000047825"	"00021037"	"50"	"64"	"0"	"64"	"0"	"c.64G>A"	"r.(?)"	"p.(Val22Ile)"	"2"
"0000047826"	"00021037"	"10"	"473"	"49"	"473"	"49"	"c.473+49C>A"	"r.(?)"	"p.(=)"	"3i"
"0000047827"	"00021037"	"30"	"97"	"0"	"97"	"0"	"c.97C>A"	"r.(?)"	"p.(His33Asn)"	"2"
"0000047828"	"00021037"	"50"	"286"	"10"	"286"	"10"	"c.286+10G>A"	"r.(=)"	"p.(=)"	"3i"
"0000047829"	"00021037"	"50"	"286"	"15"	"286"	"15"	"c.286+15C>T"	"r.(=)"	"p.(=)"	"3i"
"0000047830"	"00021037"	"50"	"727"	"-9"	"727"	"-9"	"c.727-9T>A"	"r.(spl?)"	"p.(?)"	"5i"
"0000047831"	"00021037"	"30"	"727"	"-9"	"727"	"-9"	"c.727-9T>A"	"r.(spl?)"	"p.(?)"	"5i"
"0000047832"	"00021037"	"50"	"727"	"-24"	"727"	"-24"	"c.727-24G>C"	"r.(=)"	"p.(=)"	"5i"
"0000047833"	"00021037"	"50"	"727"	"-24"	"727"	"-24"	"c.727-24G>C"	"r.(=)"	"p.(=)"	"5i"
"0000170769"	"00021037"	"50"	"1127"	"0"	"1127"	"0"	"c.1127C>A"	"r.(?)"	"p.(Ala376Asp)"	"9"
"0000170770"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.1473g>a"	"p.Glu491="	"11"
"0000170772"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.spl?"	"p.(=)"	"11"
"0000170774"	"00021037"	"50"	"1127"	"0"	"1127"	"0"	"c.1127C>A"	"r.(?)"	"p.(Ala376Asp)"	"9"
"0000170776"	"00021037"	"50"	"1127"	"0"	"1127"	"0"	"c.1127C>A"	"r.(?)"	"p.(Ala376Asp)"	"9"
"0000170777"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.1473g>a"	"p.Glu491="	"11"
"0000170781"	"00021037"	"00"	"2085"	"0"	"2085"	"0"	"c.2085G>C"	"r.(=)"	"p.(Ser695=)"	"17"
"0000170786"	"00021037"	"90"	"515"	"0"	"515"	"0"	"c.515T>A"	"r.(?)"	"p.(Met172Lys)"	"4"
"0000170788"	"00021037"	"90"	"750"	"0"	"750"	"0"	"c.750C>G"	"r.(?)"	"p.(Tyr250*)"	"6"
"0000170789"	"00021037"	"90"	"750"	"0"	"750"	"0"	"c.750C>G"	"r.(?)"	"p.(Tyr250*)"	"6"
"0000170791"	"00021037"	"90"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Gly430Arg)"	"10"
"0000170792"	"00021037"	"90"	"1511"	"0"	"1511"	"0"	"c.1511A>G"	"r.(?)"	"p.(Tyr504Cys)"	"12"
"0000170793"	"00021037"	"70"	"2219"	"0"	"2219"	"0"	"c.2219C>T"	"r.(?)"	"p.(Thr740Met)"	"18"
"0000170794"	"00021037"	"90"	"1841"	"0"	"1841"	"0"	"c.1841dup"	"r.(?)"	"p.(Leu615Profs*177)"	"16"
"0000170795"	"00021037"	"70"	"1591"	"0"	"1595"	"0"	"c.1591_1595delinsCAGGCAAGAGC"	"r.(?)"	"p.(Ser531_Val532delinsGlnAlaArgAla)"	"13"
"0000170796"	"00021037"	"10"	"1851"	"0"	"1851"	"0"	"c.1851C>T"	"r.(?)"	"p.(Ala617=)"	"16"
"0000170797"	"00021037"	"50"	"2255"	"0"	"2255"	"0"	"c.2255G>A"	"r.(?)"	"p.(Arg752His)"	"18"
"0000170798"	"00021037"	"50"	"1118"	"0"	"1118"	"0"	"c.1118G>A"	"r.(?)"	"p.(Gly373Asp)"	"9"
"0000170799"	"00021037"	"50"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	"10"
"0000170800"	"00021037"	"90"	"614"	"4"	"614"	"4"	"c.614+4A>G"	"r.spl"	"p.?"	"4i"
"0000170801"	"00021037"	"90"	"178"	"0"	"178"	"0"	"c.178G>T"	"r.(?)"	"p.(Glu60*)"	"2"
"0000170802"	"00021037"	"90"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105*)"	"3"
"0000170803"	"00021037"	"90"	"1861"	"0"	"1872"	"0"	"c.1861_1872del"	"r.(?)"	"p.(Ala621_Gln624del)"	"16"
"0000170804"	"00021037"	"90"	"515"	"0"	"515"	"0"	"c.515T>A"	"r.(?)"	"p.(Met172Lys)"	"4"
"0000170805"	"00021037"	"10"	"286"	"15"	"286"	"15"	"c.286+15C>T"	"r.(?)"	"p.(=)"	"2i"
"0000170806"	"00021037"	"10"	"727"	"-24"	"727"	"-24"	"c.727-24G>C"	"r.(?)"	"p.(=)"	"5i"
"0000170807"	"00021037"	"10"	"1995"	"9"	"1995"	"9"	"c.1995+9G>C"	"r.(?)"	"p.(=)"	"16i"
"0000170808"	"00021037"	"10"	"1605"	"43"	"1605"	"43"	"c.1605+43C>G"	"r.(?)"	"p.(=)"	"12i"
"0000170809"	"00021037"	"10"	"1620"	"0"	"1620"	"0"	"c.1620C>T"	"r.1620c>u"	"p.Asn540="	"14"
"0000170810"	"00021037"	"10"	"295"	"0"	"295"	"0"	"c.295C>G"	"r.(?)"	"p.(Leu99Val)"	"3"
"0000170811"	"00021037"	"10"	"829"	"0"	"829"	"0"	"c.829G>C"	"r.(?)"	"p.(Val277Leu)"	"6"
"0000170812"	"00021037"	"90"	"2033"	"0"	"2033"	"0"	"c.2033G>C"	"r.(?)"	"p.(Arg678Pro)"	"17"
"0000170815"	"00021037"	"90"	"1235"	"0"	"1235"	"0"	"c.1235A>T"	"r.(?)"	"p.(Asn412Ile)"	"9"
"0000170816"	"00021037"	"90"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Gly430Arg)"	"10"
"0000170817"	"00021037"	"90"	"254"	"0"	"286"	"9"	"c.254_286+9del"	"r.spl"	"p.(Leu85_Ala96delinsPro)"	"2_2i"
"0000170818"	"00021037"	"90"	"2203"	"0"	"2203"	"0"	"c.2203G>A"	"r.(?)"	"p.(Gly735Ser)"	"17"
"0000170819"	"00021037"	"00"	"2112"	"0"	"2112"	"0"	"c.2112dup"	"r.(?)"	"p.(Met705Hisfs*87)"	"17"
"0000170820"	"00021037"	"90"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Gly792Arg)"	"18"
"0000170821"	"00021037"	"90"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Gly792Arg)"	"18"
"0000170822"	"00021037"	"50"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Ala444Thr)"	"10"
"0000170823"	"00021037"	"90"	"2188"	"0"	"2188"	"0"	"c.2188C>T"	"r.(?)"	"p.(Arg730Cys)"	"18"
"0000170824"	"00021037"	"90"	"2343"	"0"	"2343"	"0"	"c.2343G>A"	"r.(?)"	"p.(Trp781*)"	"18"
"0000170827"	"00021037"	"70"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.(?)"	"p.(Asp189Asn)"	"4"
"0000311796"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.(?)"	"p.(Glu491=)"	""
"0000311797"	"00021037"	"30"	"2172"	"0"	"2172"	"0"	"c.2172A>G"	"r.(?)"	"p.(Pro724=)"	""
"0000311798"	"00021037"	"50"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Arg79Trp)"	""
"0000311799"	"00021037"	"30"	"447"	"0"	"447"	"0"	"c.447G>A"	"r.(?)"	"p.(Gly149=)"	""
"0000316487"	"00021037"	"50"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Val484Met)"	""
"0000346009"	"00021037"	"50"	"-5128"	"0"	"-5128"	"0"	"c.-5128G>A"	"r.(?)"	"p.(=)"	""
"0000346647"	"00021037"	"10"	"714"	"0"	"714"	"0"	"c.714C>G"	"r.(?)"	"p.(Ile238Met)"	""
"0000346735"	"00021037"	"50"	"1345"	"0"	"1345"	"0"	"c.1345A>G"	"r.(?)"	"p.(Ile449Val)"	""
"0000530031"	"00021037"	"30"	"2367"	"0"	"2367"	"0"	"c.2367G>A"	"r.(?)"	"p.(Ala789=)"	""
"0000530032"	"00021037"	"30"	"2255"	"0"	"2255"	"0"	"c.2255G>A"	"r.(?)"	"p.(Arg752His)"	""
"0000530033"	"00021037"	"50"	"2135"	"0"	"2135"	"0"	"c.2135G>A"	"r.(?)"	"p.(Arg712Gln)"	""
"0000530034"	"00021037"	"50"	"2135"	"0"	"2135"	"0"	"c.2135G>A"	"r.(?)"	"p.(Arg712Gln)"	""
"0000530035"	"00021037"	"30"	"1884"	"0"	"1884"	"0"	"c.1884G>A"	"r.(?)"	"p.(Gln628=)"	""
"0000530036"	"00021037"	"10"	"1851"	"0"	"1851"	"0"	"c.1851C>T"	"r.(?)"	"p.(Ala617=)"	""
"0000530037"	"00021037"	"50"	"1259"	"0"	"1259"	"0"	"c.1259G>A"	"r.(?)"	"p.(Arg420His)"	""
"0000530038"	"00021037"	"50"	"1118"	"0"	"1118"	"0"	"c.1118G>A"	"r.(?)"	"p.(Gly373Asp)"	""
"0000530039"	"00021037"	"50"	"915"	"0"	"915"	"0"	"c.915C>G"	"r.(?)"	"p.(Ser305=)"	""
"0000530040"	"00021037"	"50"	"109"	"0"	"109"	"0"	"c.109G>A"	"r.(?)"	"p.(Glu37Lys)"	""
"0000530042"	"00021037"	"50"	"-5246"	"0"	"-5246"	"0"	"c.-5246G>T"	"r.(?)"	"p.(=)"	""
"0000530043"	"00021037"	"50"	"-5970"	"0"	"-5970"	"0"	"c.-5970C>T"	"r.(?)"	"p.(=)"	""
"0000530044"	"00021037"	"30"	"-6003"	"0"	"-6003"	"0"	"c.-6003C>T"	"r.(?)"	"p.(=)"	""
"0000610563"	"00021037"	"50"	"1127"	"0"	"1127"	"0"	"c.1127C>A"	"r.(?)"	"p.(Ala376Asp)"	""
"0000610564"	"00021037"	"50"	"1127"	"0"	"1127"	"0"	"c.1127C>A"	"r.(?)"	"p.(Ala376Asp)"	""
"0000652073"	"00021037"	"30"	"2255"	"0"	"2255"	"0"	"c.2255G>A"	"r.(?)"	"p.(Arg752His)"	""
"0000655677"	"00021037"	"30"	"1767"	"7"	"1767"	"7"	"c.1767+7C>T"	"r.(=)"	"p.(=)"	""
"0000669938"	"00021037"	"30"	"2255"	"0"	"2255"	"0"	"c.2255G>A"	"r.(?)"	"p.(Arg752His)"	""
"0000677908"	"00021037"	"50"	"1812"	"0"	"1812"	"0"	"c.1812T>C"	"r.(?)"	"p.(Tyr604=)"	""
"0000677909"	"00021037"	"30"	"1473"	"13"	"1473"	"13"	"c.1473+13C>G"	"r.(=)"	"p.(=)"	""
"0000677910"	"00021037"	"30"	"1377"	"0"	"1377"	"0"	"c.1377C>T"	"r.(?)"	"p.(Ser459=)"	""
"0000721146"	"00021037"	"30"	"2255"	"0"	"2255"	"0"	"c.2255G>A"	"r.(?)"	"p.(Arg752His)"	""
"0000721147"	"00021037"	"30"	"1767"	"7"	"1767"	"7"	"c.1767+7C>T"	"r.(=)"	"p.(=)"	""
"0000721148"	"00021037"	"50"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(?)"	"p.(Val505Met)"	""
"0000721149"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.(?)"	"p.(Glu491=)"	""
"0000802780"	"00021037"	"30"	"2082"	"0"	"2082"	"0"	"c.2082C>T"	"r.(?)"	"p.(Ser694=)"	""
"0000802781"	"00021037"	"30"	"1420"	"0"	"1420"	"0"	"c.1420A>G"	"r.(?)"	"p.(Ile474Val)"	""
"0000802782"	"00021037"	"30"	"1094"	"0"	"1094"	"0"	"c.1094C>T"	"r.(?)"	"p.(Ser365Phe)"	""
"0000802783"	"00021037"	"50"	"850"	"-3"	"850"	"-3"	"c.850-3C>G"	"r.spl?"	"p.?"	""
"0000802784"	"00021037"	"30"	"849"	"8"	"849"	"8"	"c.849+8T>C"	"r.(=)"	"p.(=)"	""
"0000851338"	"00021037"	"70"	"1995"	"1"	"1995"	"1"	"c.1995+1G>A"	"r.spl?"	"p.?"	""
"0000851339"	"00021037"	"10"	"-5546"	"0"	"-5546"	"0"	"c.-5546C>T"	"r.(?)"	"p.(=)"	""
"0000860549"	"00021037"	"50"	"1750"	"0"	"1750"	"0"	"c.1750G>A"	"r.(?)"	"p.(Glu584Lys)"	""
"0000887511"	"00021037"	"30"	"1682"	"9"	"1682"	"9"	"c.1682+9G>C"	"r.(=)"	"p.(=)"	""
"0000887512"	"00021037"	"50"	"-4805"	"0"	"-4805"	"0"	"c.-4805G>A"	"r.(?)"	"p.(=)"	""
"0000912606"	"00021037"	"70"	"2188"	"0"	"2188"	"0"	"c.2188C>T"	"r.(?)"	"p.(Arg730Cys)"	""
"0000912607"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.(?)"	"p.(Glu491=)"	""
"0000924593"	"00021037"	"30"	"1749"	"0"	"1749"	"0"	"c.1749C>G"	"r.(?)"	"p.(Val583=)"	""
"0000924594"	"00021037"	"30"	"1449"	"0"	"1449"	"0"	"c.1449C>T"	"r.(?)"	"p.(Ser483=)"	""
"0000924595"	"00021037"	"90"	"-1751"	"0"	"-1751"	"0"	"c.-1751C>T"	"r.(?)"	"p.(=)"	""
"0000931649"	"00021037"	"70"	"1938"	"0"	"1938"	"0"	"c.1938C>G"	"r.(?)"	"p.(Tyr646*)"	""
"0000948786"	"00021037"	"90"	"2343"	"0"	"2343"	"0"	"c.2343G>A"	"r.(?)"	"p.(Trp781*)"	""
"0000977406"	"00021037"	"30"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.(?)"	"p.(Glu491=)"	""
"0000977407"	"00021037"	"30"	"1098"	"0"	"1098"	"0"	"c.1098C>T"	"r.(?)"	"p.(=)"	""
"0000996013"	"00021037"	"50"	"-1804"	"0"	"-1804"	"0"	"c.-1804A>T"	"r.(?)"	"p.(=)"	""
"0000996014"	"00021037"	"50"	"-5575"	"0"	"-5575"	"0"	"c.-5575G>A"	"r.(?)"	"p.(=)"	""
"0001022201"	"00021037"	"50"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.0?"	"p.0?"	"12"
"0001025286"	"00021037"	"50"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	""
"0001035984"	"00021037"	"50"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Arg455Gln)"	""
"0001046085"	"00021037"	"30"	"1770"	"0"	"1770"	"0"	"c.1770C>T"	"r.(?)"	"p.(=)"	""
"0001052755"	"00021037"	"50"	"1518"	"0"	"1518"	"0"	"c.1518C>A"	"r.(?)"	"p.(Ser506Arg)"	""
"0001052756"	"00021037"	"50"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0001052757"	"00021037"	"30"	"1270"	"16"	"1270"	"16"	"c.1270+16A>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 107
"{{screeningid}}"	"{{variantid}}"
"0000019834"	"0000040290"
"0000019836"	"0000040292"
"0000019838"	"0000040293"
"0000019842"	"0000040296"
"0000019843"	"0000040297"
"0000019844"	"0000040298"
"0000019845"	"0000040299"
"0000019846"	"0000040301"
"0000019846"	"0000040302"
"0000019847"	"0000040303"
"0000019847"	"0000040304"
"0000024105"	"0000046539"
"0000024105"	"0000046540"
"0000024105"	"0000046541"
"0000024218"	"0000046761"
"0000024218"	"0000046762"
"0000024219"	"0000046763"
"0000024219"	"0000046765"
"0000024221"	"0000046766"
"0000024960"	"0000047808"
"0000024961"	"0000047809"
"0000024962"	"0000047810"
"0000024963"	"0000047811"
"0000024964"	"0000047793"
"0000024966"	"0000047794"
"0000024967"	"0000047795"
"0000024968"	"0000047796"
"0000024969"	"0000047812"
"0000024970"	"0000047798"
"0000024970"	"0000047806"
"0000024970"	"0000047813"
"0000024970"	"0000047821"
"0000024971"	"0000047791"
"0000024972"	"0000047790"
"0000024973"	"0000047792"
"0000024975"	"0000047817"
"0000024975"	"0000047819"
"0000024976"	"0000047815"
"0000024977"	"0000047826"
"0000024977"	"0000047827"
"0000024978"	"0000047814"
"0000024979"	"0000047807"
"0000024979"	"0000047816"
"0000024980"	"0000047804"
"0000024981"	"0000047801"
"0000024981"	"0000047803"
"0000024982"	"0000047820"
"0000024983"	"0000047822"
"0000024984"	"0000047823"
"0000024985"	"0000047824"
"0000024986"	"0000047825"
"0000024987"	"0000047828"
"0000024988"	"0000047829"
"0000024989"	"0000047830"
"0000024990"	"0000047832"
"0000024991"	"0000047833"
"0000024992"	"0000047818"
"0000024993"	"0000047800"
"0000024994"	"0000047805"
"0000024995"	"0000047831"
"0000105370"	"0000170769"
"0000105370"	"0000170770"
"0000105371"	"0000170772"
"0000105372"	"0000170774"
"0000105374"	"0000170776"
"0000105375"	"0000170777"
"0000105376"	"0000170781"
"0000105379"	"0000170786"
"0000105380"	"0000170788"
"0000105381"	"0000170789"
"0000105382"	"0000170791"
"0000105382"	"0000170792"
"0000105383"	"0000170793"
"0000105384"	"0000170794"
"0000105385"	"0000170795"
"0000105386"	"0000170796"
"0000105387"	"0000170797"
"0000105388"	"0000170798"
"0000105389"	"0000170799"
"0000105390"	"0000170800"
"0000105391"	"0000170801"
"0000105392"	"0000170802"
"0000105393"	"0000170803"
"0000105394"	"0000170804"
"0000105395"	"0000170805"
"0000105396"	"0000170806"
"0000105397"	"0000170807"
"0000105398"	"0000170808"
"0000105399"	"0000170809"
"0000105400"	"0000170810"
"0000105401"	"0000170811"
"0000105402"	"0000170812"
"0000105403"	"0000170815"
"0000105404"	"0000170816"
"0000105405"	"0000170817"
"0000105405"	"0000170818"
"0000105406"	"0000170819"
"0000105406"	"0000170820"
"0000105407"	"0000170821"
"0000105407"	"0000170822"
"0000105408"	"0000170823"
"0000105408"	"0000170824"
"0000105409"	"0000170827"
"0000295384"	"0000652073"
"0000306250"	"0000669938"
"0000436943"	"0000931649"
"0000462674"	"0001022201"