### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NEMF)
# 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}}"
"NEMF"	"nuclear export mediator factor"	"14"	"q21.3"	"unknown"	"NC_000014.8"	"UD_132319779355"	""	"https://www.LOVD.nl/NEMF"	""	"1"	"10663"	"9147"	"608378"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/NEMF_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2021-04-07 09:02:25"	"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}}"
"00014478"	"NEMF"	"nuclear export mediator factor"	"001"	"NM_004713.3"	""	"NP_004704.2"	""	""	""	"-68"	"4053"	"3231"	"50319539"	"50250532"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"05918"	"IDDSAPN"	"intellectual developmental disorder, speech delay, axonal peripheral neuropathy (IDDSAPN)"	"AR"	"619099"	""	""	""	"00006"	"2021-04-07 09:02:06"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"NEMF"	"00139"
"NEMF"	"05918"


## Individuals ## Do not remove or alter this header ##
## Count = 23
"{{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}}"
"00361459"	""	""	""	"6"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	"5-generation family, 8 affected (2F, 6M)"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV3"
"00361460"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV6"
"00361461"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV7"
"00361462"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV8"
"00361463"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV13"
"00361464"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV14"
"00361465"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV18"
"00361466"	""	""	"00361459"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV19"
"00361467"	""	""	""	"2"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Slovenia"	""	"0"	""	""	""	"Fam2PatII1"
"00361468"	""	""	"00361467"	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	""	"F"	""	"Slovenia"	""	"0"	""	""	""	"Fam2PatII3"
"00361469"	""	""	""	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam3PatII1"
"00361470"	""	""	""	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam4PatII1"
"00361471"	""	""	""	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	"Fam5PatII1"
"00361473"	""	""	""	"1"	""	"00006"	"{PMID:Ahmed 2021:33048237}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Australia"	""	"0"	""	""	"Syria"	"FamAUS1PatII3"
"00361474"	""	""	""	"2"	""	"00006"	""	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Germany"	""	"0"	""	""	"Turkey"	"FamDEU1PatII3"
"00361475"	""	""	"00361474"	"1"	""	"00006"	""	"sister"	"F"	"yes"	"Germany"	""	"0"	""	""	"Turkey"	"FamDEU1PatII6"
"00361476"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"FamIRN1PatII1"
"00361477"	""	""	""	"2"	""	"00006"	""	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"FamSAU1PatII1"
"00361478"	""	""	"00361477"	"1"	""	"00006"	""	"brother"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"FamSAU1PatII2"
"00361479"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	""	"FamUSA1PatII1"
"00361480"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	""	"FamUSA2PatII1"
"00361481"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"United States"	""	"0"	""	""	""	"FamUSA3PatII2"
"00361578"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:27431290}"	"familial"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"12DG0891"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 23
"{{individualid}}"	"{{diseaseid}}"
"00361459"	"00198"
"00361460"	"00198"
"00361461"	"00198"
"00361462"	"00198"
"00361463"	"00198"
"00361464"	"00198"
"00361465"	"00198"
"00361466"	"00198"
"00361467"	"00198"
"00361468"	"00198"
"00361469"	"00198"
"00361470"	"00198"
"00361471"	"00198"
"00361473"	"00198"
"00361474"	"00198"
"00361475"	"00198"
"00361476"	"00198"
"00361477"	"00198"
"00361478"	"00198"
"00361479"	"00198"
"00361480"	"00198"
"00361481"	"00198"
"00361578"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05918
## Count = 23
"{{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}}"
"0000256864"	"00198"	"00361459"	"00006"	"Familial, autosomal recessive"	"14y"	"OFC 53.4cm (<20th), length 143.3cm (<1), weight 31.8kg (<1); delayed motor milestones, 2y-walk (with aid); 3y-delayed speech development; moderate intellectual disability; strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head normal"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256865"	"00198"	"00361460"	"00006"	"Familial, autosomal recessive"	"20y"	"delayed motor milestones, 4y-walk; 3y-delayed speech development; moderate intellectual disability; normal eye movements; dysarthria; no scoliosis; MRI head cerebral atrophy (bilateral)"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256866"	"00198"	"00361461"	"00006"	"Familial, autosomal recessive"	"34y"	"OFC 55.9cm (<20th), length 121.9cm (<1), weight 70kg (> 50th); delayed motor milestones, 8y-walk; 2y-delayed speech development; moderate intellectual disability; strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy (bilateral)"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256867"	"00198"	"00361462"	"00006"	"Familial, autosomal recessive"	"21y"	"OFC 53.3cm (<20th), length 143.3cm (<1), weight 40kg (<1); delayed motor milestones, 3y-walk; 3y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; MRI head cerebral atrophy"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256868"	"00198"	"00361463"	"00006"	"Familial, autosomal recessive"	"26y"	"OFC 54.6cm (<20th), length 152.4cm (<1), weight; delayed motor milestones, 2y-walk; 3y-delayed speech development; moderate intellectual disability; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256869"	"00198"	"00361464"	"00006"	"Familial, autosomal recessive"	"21y"	"OFC 55.8cm (50th), length 143.3cm (<1), weight 40kg (<1); delayed motor milestones, 3y-walk; 4y-delayed speech development; Moderate ID; strabismus; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256870"	"00198"	"00361465"	"00006"	"Familial, autosomal recessive"	"34y"	"OFC 55.9cm (20th), length 152.4cm (<1), weight 70kg (> 50th); delayed motor milestones, 3y-walk; 3y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256871"	"00198"	"00361466"	"00006"	"Familial, autosomal recessive"	"20y"	"OFC 51cm (<1), length 146.3cm (<1), weight 36.5kg (<1); delayed motor milestones, 3y-walk; 2y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; scoliosis; MRI head cerebral atrophy"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256872"	"00198"	"00361467"	"00006"	"Familial, autosomal recessive"	"17y"	"see paper; ..., OFC (75th), length (90th), weight (99th), BMI 32.3; no delayed motor milestones, 15m-walk; no delayed speech development; mild intellectual disability; Impaired smooth–pursuit and saccade eye movement; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; 10y-metabolic syndrome with insulin resistance, 9y-hypothyroidism; no upper limb atrophy (distal/proximal), normal upper limb tone, no lower limb weakness, normal upper limb reflexes, no upper limb sensory problems, no hand deformity, no lower limb atrophy (distal/proximal), normal lower limb tone, lower limb weakness (distal/proximal), feet dorsiflexion, normal lower limb reflexes, no lower limb sensory problems, left foot varus deformity, left foot inversion while walking, no spasticity, no ataxia"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256873"	"00198"	"00361468"	"00006"	"Familial, autosomal recessive"	"26y"	"see paper; ..., OFC (50th), length (92nd), weight (52nd), BMI 24.3; delayed motor milestones, 18m-walk with aid; delayed speech development; mild intellectual disability; Impaired smooth-pursuit and saccade eye movement, convergent strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; 13y-type 1 diabetes, 24y-low vitamin D; upper limb atrophy (distal/proximal), normal upper limb tone, lower limb weakness, finger abduction and thumb opposition, normal upper limb reflexes, no upper limb sensory problems, hand deformity, radial deviation in the elbow and wrist, lower limb atrophy (distal/proximal), m.pretibial > m.gastrocnemius, normal lower limb tone, lower limb weakness (distal/proximal), dorsiflexion and plantar flexion feet and toes, reduced Achilles reflexes, lower limb sensory problems, pallhypestesia toes, left foot varus deformity, high arched feet, bilaterally hammer toes, wide, peroneal gait, no spasticity, no ataxia"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256874"	"00198"	"00361469"	"00006"	"Familial, autosomal recessive"	"4y6m"	"see paper; ..., OFC 46cm (< 5th), length 95cm (10th–25th), weight 12kg (< 3rd), BMI 13.3 (< 5th); no delayed motor milestones, 14m-walk; delayed speech development, make 4 word sentence, most words are clear; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; no lower limb weakness, no feet equinovarus, no hammer toes; protruding ears, mild hypermobility of joints, skeletal survey normal except for hind foot deformity; no upper limb atrophy (distal/proximal), normal upper limb tone, no lower limb weakness, normal upper limb reflexes, no upper limb sensory problems, no hand deformity, no lower limb atrophy (distal/proximal), normal lower limb tone, lower limb weakness (distal/proximal), feet dorsiflexion, normal lower limb reflexes, no lower limb sensory problems, bilateral talipes equinovarus more in L>R, foot deformity gives unsteady and side foot walk when running only, no spasticity, no ataxia"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256875"	"00198"	"00361470"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..., OFC (50th), length 125cm (5th), weight 25kg (5th–10th), BMI 17.28; delayed motor milestones, 2y-walk; delayed speech development,  9y-single words; mild intellectual disability (IQ65); normal eye movements; spondylolisthesis; no lower limb weakness, no feet equinovarus, no hammer toes; MRI head normal; failure to thrive"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256876"	"00198"	"00361471"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..., OFC 52.5cm (10th), length 141cm (50th), weight 46.2kg (50th), BMI 18.83; delayed motor milestones, y-walk with aid; 3y-delayed speech development; severe cognitive delay, severe intellectual disability; strabismus, limited abduction both eyes with narrowing pupil\'s fissure (Duane syndrome Type 1); dysarthria; no scoliosis; limping gait Spasticity in the ankles; MRI head normal; seizure disorder, resolved with time; ADHD; no lower limb sensory problems"	""	""	""	""	""	""	""	""	""	"polyneuropathy"	""
"0000256877"	"00198"	"00361473"	"00006"	"Familial, autosomal recessive"	"7y7m"	"see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; tremor; kyphosis/scoliosis"	"1y6m"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256878"	"00198"	"00361474"	"00006"	"Familial, autosomal recessive"	"22y"	"see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain abnormal; kyphosis/scoliosis"	"2y"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256879"	"00198"	"00361475"	"00006"	"Familial, autosomal recessive"	"16y"	"see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; hypotonia; no respiratory distress; no tremor; MRI brain normal; kyphosis/scoliosis"	"1y"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256880"	"00198"	"00361476"	"00006"	"Familial, autosomal recessive"	"28y"	"see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; distal muscle atrophy; hypotonia; no respiratory distress; no kyphosis/scoliosis"	"1y"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256881"	"00198"	"00361477"	"00006"	"Familial, autosomal recessive"	"10y6m"	"see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain normal; no kyphosis/scoliosis"	"2y"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256882"	"00198"	"00361478"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain normal; no kyphosis/scoliosis"	"2y"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256883"	"00198"	"00361479"	"00006"	"Isolated (sporadic)"	"6y4m"	"see paper; ..., no intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; hypotonia; respiratory distress; no tremor; kyphosis/scoliosis"	"1y8m"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256884"	"00198"	"00361480"	"00006"	"Familial, autosomal recessive"	"7y10m"	"see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; hypotonia; no respiratory distress; no tremor; MRI brain abnormal; no kyphosis/scoliosis"	"2y"	""	""	""	""	""	""	""	"IDDSAPN"	"neuromuscular disease"	""
"0000256885"	"00198"	"00361481"	"00006"	"Isolated (sporadic)"	"24y"	"see paper; ..., no intellectual disability/global developmental delay; speech delay; neuropathy (axonal); no ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; tremor; no kyphosis/scoliosis"	"17y"	""	""	""	""	""	""	""	""	"neuromuscular disease"	""
"0000256983"	"00139"	"00361578"	"00006"	"Familial, autosomal recessive"	"7y"	"not syndromic; global developmental delay, strabismus, obesity"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""


## Screenings ## Do not remove or alter this header ##
## Count = 23
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000362687"	"00361459"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000362688"	"00361460"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362689"	"00361461"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362690"	"00361462"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362691"	"00361463"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362692"	"00361464"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362693"	"00361465"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362694"	"00361466"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000362695"	"00361467"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000362696"	"00361468"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000362697"	"00361469"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000362698"	"00361470"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000362699"	"00361471"	"1"	"00006"	"00006"	"2021-04-07 09:00:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000362701"	"00361473"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362702"	"00361474"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362703"	"00361475"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362704"	"00361476"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362705"	"00361477"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362706"	"00361478"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362707"	"00361479"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362708"	"00361480"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362709"	"00361481"	"1"	"00006"	"00006"	"2021-04-07 10:15:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362806"	"00361578"	"1"	"00006"	"00006"	"2021-04-07 19:07:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}"	"{{geneid}}"
"0000362687"	"NEMF"
"0000362688"	"NEMF"
"0000362689"	"NEMF"
"0000362690"	"NEMF"
"0000362691"	"NEMF"
"0000362692"	"NEMF"
"0000362693"	"NEMF"
"0000362694"	"NEMF"
"0000362695"	"NEMF"
"0000362696"	"NEMF"
"0000362697"	"NEMF"
"0000362698"	"NEMF"
"0000362699"	"NEMF"
"0000362701"	"NEMF"
"0000362702"	"NEMF"
"0000362703"	"NEMF"
"0000362704"	"NEMF"
"0000362705"	"NEMF"
"0000362706"	"NEMF"
"0000362707"	"NEMF"
"0000362708"	"NEMF"
"0000362709"	"NEMF"
"0000362806"	"NEMF"


## 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 = 33
"{{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}}"
"0000323672"	"0"	"50"	"14"	"50251693"	"50251693"	"subst"	"0.000256306"	"01804"	"NEMF_000001"	"g.50251693G>A"	""	""	""	"NEMF(NM_004713.3):c.3103C>T (p.(His1035Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49784975G>A"	""	"VUS"	""
"0000323673"	"0"	"50"	"14"	"50251694"	"50251694"	"subst"	"0.000264395"	"01804"	"NEMF_000002"	"g.50251694C>T"	""	""	""	"NEMF(NM_004713.3):c.3102G>A (p.(Met1034Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49784976C>T"	""	"VUS"	""
"0000763057"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763058"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763059"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763060"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763061"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763062"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763063"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763064"	"3"	"90"	"14"	"50262513"	"50262513"	"del"	"0"	"00006"	"NEMF_000005"	"g.50262513del"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795795del"	""	"pathogenic (recessive)"	""
"0000763065"	"3"	"90"	"14"	"50298846"	"50298846"	"subst"	"0"	"00006"	"NEMF_000017"	"g.50298846T>G"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49832128T>G"	""	"pathogenic (recessive)"	""
"0000763066"	"3"	"90"	"14"	"50298846"	"50298846"	"subst"	"0"	"00006"	"NEMF_000017"	"g.50298846T>G"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49832128T>G"	""	"pathogenic (recessive)"	""
"0000763067"	"3"	"90"	"14"	"50304856"	"50304856"	"subst"	"0"	"00006"	"NEMF_000018"	"g.50304856C>A"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49838138C>A"	""	"pathogenic (recessive)"	""
"0000763068"	"3"	"90"	"14"	"50295523"	"50295524"	"ins"	"0"	"00006"	"NEMF_000015"	"g.50295523_50295524insG"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49828805_49828806insG"	""	"pathogenic (recessive)"	""
"0000763069"	"3"	"90"	"14"	"50295523"	"50295524"	"ins"	"0"	"00006"	"NEMF_000015"	"g.50295523_50295524insG"	""	"{PMID:Ahmed 2021:33048237}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49828805_49828806insG"	""	"pathogenic (recessive)"	""
"0000763072"	"3"	"90"	"14"	"50262520"	"50262520"	"subst"	"8.23506E-6"	"00006"	"NEMF_000009"	"g.50262520G>A"	""	"{PMID:Martin 2020:32934225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49795802G>A"	""	"pathogenic (recessive)"	""
"0000763073"	"3"	"90"	"14"	"50269252"	"50269252"	"subst"	"0"	"00006"	"NEMF_000011"	"g.50269252T>A"	""	"{PMID:Martin 2020:32934225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49802534T>A"	""	"pathogenic (recessive)"	""
"0000763074"	"3"	"90"	"14"	"50269252"	"50269252"	"subst"	"0"	"00006"	"NEMF_000011"	"g.50269252T>A"	""	"{PMID:Martin 2020:32934225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49802534T>A"	""	"pathogenic (recessive)"	""
"0000763075"	"3"	"90"	"14"	"50266207"	"50266207"	"del"	"0"	"00006"	"NEMF_000010"	"g.50266207del"	""	"{PMID:Martin 2020:32934225}"	""	"2451delA"	""	"Germline"	""	""	"0"	""	""	"g.49799489del"	""	"pathogenic (recessive)"	""
"0000763076"	"3"	"90"	"14"	"50255884"	"50255888"	"dup"	"0"	"00006"	"NEMF_000006"	"g.50255884_50255888dup"	""	"{PMID:Martin 2020:32934225}"	""	"2871_2875dupTGTAG"	""	"Germline"	""	""	"0"	""	""	"g.49789166_49789170dup"	""	"pathogenic (recessive)"	""
"0000763077"	"3"	"90"	"14"	"50255884"	"50255888"	"dup"	"0"	"00006"	"NEMF_000006"	"g.50255884_50255888dup"	""	"{PMID:Martin 2020:32934225}"	""	"2871_2875dupTGTAG"	""	"Germline"	""	""	"0"	""	""	"g.49789166_49789170dup"	""	"pathogenic (recessive)"	""
"0000763078"	"21"	"90"	"14"	"50269255"	"50269255"	"subst"	"0"	"00006"	"NEMF_000012"	"g.50269255G>A"	""	"{PMID:Martin 2020:32934225}"	""	""	"phase variants unknown"	"Germline"	""	""	"0"	""	""	"g.49802537G>A"	""	"pathogenic"	""
"0000763079"	"21"	"50"	"14"	"50296110"	"50296110"	"subst"	"2.03138E-5"	"00006"	"NEMF_000016"	"g.50296110C>T"	""	"{PMID:Martin 2020:32934225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49829392C>T"	""	"VUS"	""
"0000763080"	"0"	"70"	"14"	"50281495"	"50281495"	"subst"	"0"	"00006"	"NEMF_000013"	"g.50281495A>G"	""	"{PMID:Martin 2020:32934225}"	""	""	"no variant 2nd chroosome"	"De novo"	""	""	"0"	""	""	"g.49814777A>G"	""	"likely pathogenic (dominant)"	""
"0000763081"	"0"	"90"	"14"	"50319471"	"50319471"	"subst"	"0"	"00006"	"NEMF_000019"	"g.50319471T>A"	""	"{PMID:Martin 2020:32934225}"	""	""	"phase variants unknown"	"De novo"	""	""	"0"	""	""	"g.49852753T>A"	""	"pathogenic"	""
"0000763082"	"21"	"50"	"14"	"50255982"	"50255982"	"subst"	"4.06105E-6"	"00006"	"NEMF_000007"	"g.50255982G>A"	""	"{PMID:Martin 2020:32934225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49789264G>A"	""	"VUS"	""
"0000763083"	"11"	"90"	"14"	"50255992"	"50255992"	"del"	"0"	"00006"	"NEMF_000008"	"g.50255992del"	""	"{PMID:Martin 2020:32934225}"	""	"2768delA"	""	"Germline"	""	""	"0"	""	""	"g.49789274del"	""	"pathogenic (recessive)"	""
"0000763180"	"3"	"90"	"14"	"50295522"	"50295523"	"ins"	"0"	"00006"	"NEMF_000014"	"g.50295522_50295523insG"	""	"{PMID:Anazi 2017:27431290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49828804_49828805insG"	""	"pathogenic"	""
"0001001014"	"0"	"30"	"14"	"50251990"	"50251990"	"subst"	"0"	"01804"	"KLHDC2_000001"	"g.50251990G>A"	""	""	""	"NEMF(NM_004713.3):c.2977C>T (p.(His993Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039971"	"0"	"50"	"14"	"50251693"	"50251694"	"delins"	"0"	"01804"	"KLHDC2_000002"	"g.50251693_50251694delinsAT"	""	""	""	"NEMF(NM_004713.6):c.3102_3103delinsAT (p.(Met1034_His1035delinsIleTyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039972"	"0"	"50"	"14"	"50269386"	"50269386"	"subst"	"4.08747E-6"	"01804"	"NEMF_000020"	"g.50269386C>T"	""	""	""	"NEMF(NM_004713.6):c.1974+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039973"	"0"	"30"	"14"	"50269414"	"50269414"	"subst"	"0.000228361"	"01804"	"NEMF_000021"	"g.50269414T>C"	""	""	""	"NEMF(NM_004713.6):c.1947A>G (p.(Leu649=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001054826"	"0"	"50"	"14"	"50300177"	"50300177"	"subst"	"4.09028E-5"	"01804"	"NEMF_000022"	"g.50300177T>G"	""	""	""	"NEMF(NM_004713.6):c.699A>C (p.(Glu233Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes NEMF
## Count = 33
"{{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}}"
"0000323672"	"00014478"	"50"	"3103"	"0"	"3103"	"0"	"c.3103C>T"	"r.(?)"	"p.(His1035Tyr)"	""
"0000323673"	"00014478"	"50"	"3102"	"0"	"3102"	"0"	"c.3102G>A"	"r.(?)"	"p.(Met1034Ile)"	""
"0000763057"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763058"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763059"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763060"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763061"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763062"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763063"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763064"	"00014478"	"90"	"2618"	"0"	"2618"	"0"	"c.2618del"	"r.(?)"	"p.(Lys873Argfs*4)"	""
"0000763065"	"00014478"	"90"	"807"	"-2"	"807"	"-2"	"c.807-2A>C"	"r.(807_882del)"	"p.(Tyr270Argfs*9)"	""
"0000763066"	"00014478"	"90"	"807"	"-2"	"807"	"-2"	"c.807-2A>C"	"r.(807_882del)"	"p.(Tyr270Argfs*9)"	""
"0000763067"	"00014478"	"90"	"574"	"1"	"574"	"1"	"c.574+1G>T"	"r.spl"	"p.?"	""
"0000763068"	"00014478"	"90"	"1234"	"0"	"1235"	"0"	"c.1234_1235insC"	"r.(?)"	"p.(Asn412Thrfs*11)"	""
"0000763069"	"00014478"	"90"	"1234"	"0"	"1235"	"0"	"c.1234_1235insC"	"r.(?)"	"p.(Asn412Thrfs*11)"	""
"0000763072"	"00014478"	"90"	"2608"	"0"	"2608"	"0"	"c.2608C>T"	"r.(?)"	"p.(Arg870Ter)"	""
"0000763073"	"00014478"	"90"	"2014"	"0"	"2014"	"0"	"c.2014A>T"	"r.(?)"	"p.(Lys672Ter)"	""
"0000763074"	"00014478"	"90"	"2014"	"0"	"2014"	"0"	"c.2014A>T"	"r.(?)"	"p.(Lys672Ter)"	""
"0000763075"	"00014478"	"90"	"2451"	"0"	"2451"	"0"	"c.2451del"	"r.(?)"	"p.(Ala818ProfsTer7)"	""
"0000763076"	"00014478"	"90"	"2871"	"0"	"2875"	"0"	"c.2871_2875dup"	"r.(?)"	"p.(Asp959ValfsTer2)"	""
"0000763077"	"00014478"	"90"	"2871"	"0"	"2875"	"0"	"c.2871_2875dup"	"r.(?)"	"p.(Asp959ValfsTer2)"	""
"0000763078"	"00014478"	"90"	"2011"	"0"	"2011"	"0"	"c.2011C>T"	"r.(?)"	"p.(Arg671Ter)"	""
"0000763079"	"00014478"	"50"	"980"	"0"	"980"	"0"	"c.980G>A"	"r.(?)"	"p.(Arg327Gln)"	""
"0000763080"	"00014478"	"70"	"1658"	"0"	"1658"	"0"	"c.1658T>C"	"r.(?)"	"p.(Ile553Thr)"	""
"0000763081"	"00014478"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0000763082"	"00014478"	"50"	"2777"	"0"	"2777"	"0"	"c.2777C>T"	"r.(?)"	"p.(Pro926Leu)"	""
"0000763083"	"00014478"	"90"	"2768"	"0"	"2768"	"0"	"c.2768del"	"r.(?)"	"p.(Lys923ArgfsTer27)"	""
"0000763180"	"00014478"	"90"	"1235"	"0"	"1236"	"0"	"c.1235_1236insC"	"r.(?)"	"p.(Pro413Serfs*10)"	""
"0001001014"	"00014478"	"30"	"2977"	"0"	"2977"	"0"	"c.2977C>T"	"r.(?)"	"p.(=)"	""
"0001039971"	"00014478"	"50"	"3102"	"0"	"3103"	"0"	"c.3102_3103delinsAT"	"r.(?)"	"p.(Met1034_His1035delinsIleTyr)"	""
"0001039972"	"00014478"	"50"	"1974"	"1"	"1974"	"1"	"c.1974+1G>A"	"r.spl?"	"p.?"	""
"0001039973"	"00014478"	"30"	"1947"	"0"	"1947"	"0"	"c.1947A>G"	"r.(?)"	"p.(=)"	""
"0001054826"	"00014478"	"50"	"699"	"0"	"699"	"0"	"c.699A>C"	"r.(?)"	"p.(Glu233Asp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 26
"{{screeningid}}"	"{{variantid}}"
"0000362687"	"0000763057"
"0000362688"	"0000763058"
"0000362689"	"0000763059"
"0000362690"	"0000763060"
"0000362691"	"0000763061"
"0000362692"	"0000763062"
"0000362693"	"0000763063"
"0000362694"	"0000763064"
"0000362695"	"0000763065"
"0000362696"	"0000763066"
"0000362697"	"0000763067"
"0000362698"	"0000763068"
"0000362699"	"0000763069"
"0000362701"	"0000763072"
"0000362702"	"0000763073"
"0000362703"	"0000763074"
"0000362704"	"0000763075"
"0000362705"	"0000763076"
"0000362706"	"0000763077"
"0000362707"	"0000763078"
"0000362707"	"0000763081"
"0000362708"	"0000763079"
"0000362708"	"0000763082"
"0000362708"	"0000763083"
"0000362709"	"0000763080"
"0000362806"	"0000763180"