20-56094286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094286
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094286
    reference: chr 20
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.287G>A
  hgvsp: ENSP00000392034.3:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.116G>A
  hgvsp: ENSP00000476718.1:p.Arg39Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.902G>A
  hgvsp: ENSP00000476783.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1564G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.902G>A
  hgvsp: ENSP00000477165.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.902G>A
  hgvsp: ENSP00000399061.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.902G>A
  hgvsp: ENSP00000476398.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.902G>A
  hgvsp: ENSP00000360239.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.902G>A
  hgvsp: ENSP00000476458.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.902G>A
  hgvsp: ENSP00000403369.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.902G>A
  hgvsp: ENSP00000415579.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.116G>A
  hgvsp: ENSP00000437999.1:p.Arg39Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.902G>A
  hgvsp: ENSP00000476577.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.902G>A
  hgvsp: ENSP00000415329.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.902G>A
  hgvsp: ENSP00000409344.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.228G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.902G>A
  hgvsp: ENSP00000413713.2:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.902G>A
  hgvsp: ENSP00000477488.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.902G>A
  hgvsp: ENSP00000477412.1:p.Arg301Gln
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg301Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

20-56094287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094287
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094287
    reference: chr 20
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.901C>T
  hgvsp: ENSP00000409344.2:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.227C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.227C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.901C>T
  hgvsp: ENSP00000243914.3:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.901C>T
  hgvsp: ENSP00000360239.2:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.901C>T
  hgvsp: ENSP00000476458.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.901C>T
  hgvsp: ENSP00000477412.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.901C>T
  hgvsp: ENSP00000415329.2:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.901C>T
  hgvsp: ENSP00000403369.2:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.286C>T
  hgvsp: ENSP00000439998.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.901C>T
  hgvsp: ENSP00000476398.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1563C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.115C>T
  hgvsp: ENSP00000476718.1:p.Arg39Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.286C>T
  hgvsp: ENSP00000392034.3:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.901C>T
  hgvsp: ENSP00000476783.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.901C>T
  hgvsp: ENSP00000399061.2:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.901C>T
  hgvsp: ENSP00000477488.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.901C>T
  hgvsp: ENSP00000477165.1:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.901C>T
  hgvsp: ENSP00000415579.2:p.Arg301Trp
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg301Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

20-56094288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094288
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094288
    reference: chr 20
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.285G>A
  hgvsp: ENST00000433949.3:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.900G>A
  hgvsp: ENST00000426658.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.285G>A
  hgvsp: ENST00000539382.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.900G>A
  hgvsp: ENST00000371196.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.900G>A
  hgvsp: ENST00000608158.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.900G>A
  hgvsp: ENST00000432255.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.900G>A
  hgvsp: ENST00000608425.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.900G>A
  hgvsp: ENST00000608440.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.114G>A
  hgvsp: ENST00000502686.2:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.900G>A
  hgvsp: ENST00000429804.3:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.900G>A
  hgvsp: ENST00000608263.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.114G>A
  hgvsp: ENST00000608903.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.900G>A
  hgvsp: ENST00000422109.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.900G>A
  hgvsp: ENST00000608720.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.900G>A
  hgvsp: ENST00000481655.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.900G>A
  hgvsp: ENST00000422869.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.900G>A
  hgvsp: ENST00000609232.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1562G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.226G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu300Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/20-56094300-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094300
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094300
    reference: chr 20
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.214G>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.888G>T
  hgvsp: ENST00000432255.2:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.888G>T
  hgvsp: ENST00000608263.1:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.888G>T
  hgvsp: ENST00000426658.2:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.888G>T
  hgvsp: ENST00000371196.2:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.273G>T
  hgvsp: ENST00000539382.1:c.273G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.888G>T
  hgvsp: ENST00000481655.2:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.888G>T
  hgvsp: ENST00000609232.1:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.888G>T
  hgvsp: ENST00000608158.1:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.888G>T
  hgvsp: ENST00000243914.3:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.888G>T
  hgvsp: ENST00000429804.3:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.273G>T
  hgvsp: ENST00000433949.3:c.273G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.888G>T
  hgvsp: ENST00000608720.1:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.102G>T
  hgvsp: ENST00000502686.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.102G>T
  hgvsp: ENST00000608903.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.888G>T
  hgvsp: ENST00000422869.2:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.888G>T
  hgvsp: ENST00000608425.1:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.888G>T
  hgvsp: ENST00000608440.1:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.888G>T
  hgvsp: ENST00000423479.3:c.888G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr296Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

20-56094304-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094304
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094304
    reference: chr 20
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.884G>C
  hgvsp: ENSP00000476577.1:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.884G>C
  hgvsp: ENSP00000243914.3:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.884G>C
  hgvsp: ENSP00000413713.2:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.884G>C
  hgvsp: ENSP00000476783.1:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.884G>C
  hgvsp: ENSP00000477165.1:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.884G>C
  hgvsp: ENSP00000360239.2:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.884G>C
  hgvsp: ENSP00000476398.1:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.269G>C
  hgvsp: ENSP00000439998.1:p.Arg90Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.884G>C
  hgvsp: ENSP00000409344.2:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.210G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.98G>C
  hgvsp: ENSP00000476718.1:p.Arg33Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.884G>C
  hgvsp: ENSP00000415579.2:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.884G>C
  hgvsp: ENSP00000403369.2:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.884G>C
  hgvsp: ENSP00000477488.1:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1546G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.884G>C
  hgvsp: ENSP00000415329.2:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.98G>C
  hgvsp: ENSP00000437999.1:p.Arg33Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.269G>C
  hgvsp: ENSP00000392034.3:p.Arg90Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.884G>C
  hgvsp: ENSP00000477412.1:p.Arg295Pro
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg295Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

20-56094304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094304
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094304
    reference: chr 20
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.884G>A
  hgvsp: ENSP00000476783.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.884G>A
  hgvsp: ENSP00000409344.2:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.884G>A
  hgvsp: ENSP00000477165.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.884G>A
  hgvsp: ENSP00000413713.2:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.884G>A
  hgvsp: ENSP00000477488.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.210G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.210G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.884G>A
  hgvsp: ENSP00000415579.2:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.884G>A
  hgvsp: ENSP00000360239.2:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.884G>A
  hgvsp: ENSP00000476458.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.98G>A
  hgvsp: ENSP00000437999.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.269G>A
  hgvsp: ENSP00000392034.3:p.Arg90His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.269G>A
  hgvsp: ENSP00000439998.1:p.Arg90His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.884G>A
  hgvsp: ENSP00000399061.2:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.884G>A
  hgvsp: ENSP00000476398.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.884G>A
  hgvsp: ENSP00000415329.2:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.884G>A
  hgvsp: ENSP00000476577.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.884G>A
  hgvsp: ENSP00000243914.3:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.884G>A
  hgvsp: ENSP00000477412.1:p.Arg295His
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg295His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-56094305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094305
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094305
    reference: chr 20
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.883C>T
  hgvsp: ENSP00000415329.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.97C>T
  hgvsp: ENSP00000476718.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.883C>T
  hgvsp: ENSP00000477165.1:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.883C>T
  hgvsp: ENSP00000403369.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.883C>T
  hgvsp: ENSP00000243914.3:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.209C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.268C>T
  hgvsp: ENSP00000392034.3:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.883C>T
  hgvsp: ENSP00000413713.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.268C>T
  hgvsp: ENSP00000439998.1:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.883C>T
  hgvsp: ENSP00000409344.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.883C>T
  hgvsp: ENSP00000360239.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.883C>T
  hgvsp: ENSP00000477488.1:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.883C>T
  hgvsp: ENSP00000415579.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.883C>T
  hgvsp: ENSP00000476783.1:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.883C>T
  hgvsp: ENSP00000476577.1:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.883C>T
  hgvsp: ENSP00000399061.2:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.97C>T
  hgvsp: ENSP00000437999.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1545C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.883C>T
  hgvsp: ENSP00000476458.1:p.Arg295Cys
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg295Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

20-56094305-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094305
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094305
    reference: chr 20
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.883C>G
  hgvsp: ENSP00000415579.2:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.883C>G
  hgvsp: ENSP00000415329.2:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.883C>G
  hgvsp: ENSP00000399061.2:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1545C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.883C>G
  hgvsp: ENSP00000243914.3:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.883C>G
  hgvsp: ENSP00000477488.1:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.883C>G
  hgvsp: ENSP00000409344.2:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.268C>G
  hgvsp: ENSP00000439998.1:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.883C>G
  hgvsp: ENSP00000413713.2:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.883C>G
  hgvsp: ENSP00000476783.1:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.209C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.268C>G
  hgvsp: ENSP00000392034.3:p.Arg90Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.883C>G
  hgvsp: ENSP00000477165.1:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.883C>G
  hgvsp: ENSP00000477412.1:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.883C>G
  hgvsp: ENSP00000360239.2:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.209C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.97C>G
  hgvsp: ENSP00000476718.1:p.Arg33Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.883C>G
  hgvsp: ENSP00000476577.1:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.883C>G
  hgvsp: ENSP00000476458.1:p.Arg295Gly
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg295Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-56094313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094313
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094313
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.201A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.875A>G
  hgvsp: ENSP00000415329.2:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.875A>G
  hgvsp: ENSP00000409344.2:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.875A>G
  hgvsp: ENSP00000415579.2:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.875A>G
  hgvsp: ENSP00000477165.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.89A>G
  hgvsp: ENSP00000437999.1:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.875A>G
  hgvsp: ENSP00000413713.2:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.875A>G
  hgvsp: ENSP00000399061.2:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.260A>G
  hgvsp: ENSP00000439998.1:p.Lys87Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.260A>G
  hgvsp: ENSP00000392034.3:p.Lys87Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.875A>G
  hgvsp: ENSP00000360239.2:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.875A>G
  hgvsp: ENSP00000243914.3:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1537A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.875A>G
  hgvsp: ENSP00000476783.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.875A>G
  hgvsp: ENSP00000477412.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.89A>G
  hgvsp: ENSP00000476718.1:p.Lys30Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.875A>G
  hgvsp: ENSP00000476577.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.875A>G
  hgvsp: ENSP00000477488.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.875A>G
  hgvsp: ENSP00000476458.1:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys292Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

20-56094316-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094316
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094316
    reference: chr 20
allele count: 74
allele frequency: 6.095953604850402e-4
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.872T>C
  hgvsp: ENSP00000399061.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.198T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.872T>C
  hgvsp: ENSP00000476783.1:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.872T>C
  hgvsp: ENSP00000415329.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.872T>C
  hgvsp: ENSP00000477488.1:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.872T>C
  hgvsp: ENSP00000477165.1:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.872T>C
  hgvsp: ENSP00000413713.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.86T>C
  hgvsp: ENSP00000437999.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.257T>C
  hgvsp: ENSP00000392034.3:p.Leu86Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.198T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.86T>C
  hgvsp: ENSP00000476718.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.257T>C
  hgvsp: ENSP00000439998.1:p.Leu86Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.872T>C
  hgvsp: ENSP00000360239.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.872T>C
  hgvsp: ENSP00000477412.1:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1534T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.872T>C
  hgvsp: ENSP00000409344.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.872T>C
  hgvsp: ENSP00000415579.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.872T>C
  hgvsp: ENSP00000403369.2:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.872T>C
  hgvsp: ENSP00000476577.1:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu291Pro
num of homozygotes: 2
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

20-56094324-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094324
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094324
    reference: chr 20
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.864C>A
  hgvsp: ENSP00000409344.2:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.864C>A
  hgvsp: ENSP00000415579.2:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.864C>A
  hgvsp: ENSP00000476783.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.864C>A
  hgvsp: ENSP00000360239.2:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.864C>A
  hgvsp: ENSP00000243914.3:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.78C>A
  hgvsp: ENSP00000437999.1:p.His26Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.864C>A
  hgvsp: ENSP00000476398.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.78C>A
  hgvsp: ENSP00000476718.1:p.His26Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.864C>A
  hgvsp: ENSP00000477165.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.190C>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.864C>A
  hgvsp: ENSP00000415329.2:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.864C>A
  hgvsp: ENSP00000476458.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.864C>A
  hgvsp: ENSP00000476577.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.249C>A
  hgvsp: ENSP00000392034.3:p.His83Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.864C>A
  hgvsp: ENSP00000477412.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.864C>A
  hgvsp: ENSP00000477488.1:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.864C>A
  hgvsp: ENSP00000403369.2:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.864C>A
  hgvsp: ENSP00000399061.2:p.His288Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1526C>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His288Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-56094324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094324
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094324
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.864C>T
  hgvsp: ENST00000608158.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.190C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.864C>T
  hgvsp: ENST00000371196.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.864C>T
  hgvsp: ENST00000608263.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.864C>T
  hgvsp: ENST00000432255.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.864C>T
  hgvsp: ENST00000481655.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1526C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.864C>T
  hgvsp: ENST00000426658.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.249C>T
  hgvsp: ENST00000433949.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.190C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.864C>T
  hgvsp: ENST00000609232.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.864C>T
  hgvsp: ENST00000608440.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.78C>T
  hgvsp: ENST00000608903.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.864C>T
  hgvsp: ENST00000423479.3:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.864C>T
  hgvsp: ENST00000608425.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.864C>T
  hgvsp: ENST00000429804.3:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.249C>T
  hgvsp: ENST00000539382.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.864C>T
  hgvsp: ENST00000422109.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.864C>T
  hgvsp: ENST00000422869.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His288His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

20-56094329-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094329
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094329
    reference: chr 20
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.859T>C
  hgvsp: ENSP00000415579.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.859T>C
  hgvsp: ENSP00000477165.1:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.859T>C
  hgvsp: ENSP00000399061.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.859T>C
  hgvsp: ENSP00000476783.1:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.244T>C
  hgvsp: ENSP00000439998.1:p.Cys82Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.73T>C
  hgvsp: ENSP00000437999.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.859T>C
  hgvsp: ENSP00000415329.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.859T>C
  hgvsp: ENSP00000409344.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.859T>C
  hgvsp: ENSP00000476577.1:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.244T>C
  hgvsp: ENSP00000392034.3:p.Cys82Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.859T>C
  hgvsp: ENSP00000243914.3:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.185T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.859T>C
  hgvsp: ENSP00000360239.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.859T>C
  hgvsp: ENSP00000403369.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.859T>C
  hgvsp: ENSP00000476398.1:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.185T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.859T>C
  hgvsp: ENSP00000413713.2:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1521T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.73T>C
  hgvsp: ENSP00000476718.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys287Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

20-56094332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094332
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094332
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.856C>T
  hgvsp: ENST00000608158.1:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.856C>T
  hgvsp: ENST00000432255.2:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.856C>T
  hgvsp: ENST00000371196.2:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.241C>T
  hgvsp: ENST00000433949.3:c.241C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.856C>T
  hgvsp: ENST00000608425.1:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.182C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.856C>T
  hgvsp: ENST00000608720.1:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.856C>T
  hgvsp: ENST00000609232.1:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.70C>T
  hgvsp: ENST00000502686.2:c.70C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.856C>T
  hgvsp: ENST00000423479.3:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.241C>T
  hgvsp: ENST00000539382.1:c.241C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.856C>T
  hgvsp: ENST00000481655.2:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.856C>T
  hgvsp: ENST00000429804.3:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.856C>T
  hgvsp: ENST00000422869.2:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.70C>T
  hgvsp: ENST00000608903.1:c.70C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.856C>T
  hgvsp: ENST00000426658.2:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.856C>T
  hgvsp: ENST00000608263.1:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.856C>T
  hgvsp: ENST00000422109.2:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.856C>T
  hgvsp: ENST00000608440.1:c.856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu286Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

20-56094345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094345
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094345
    reference: chr 20
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.228T>C
  hgvsp: ENST00000539382.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.843T>C
  hgvsp: ENST00000608263.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.57T>C
  hgvsp: ENST00000502686.2:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.843T>C
  hgvsp: ENST00000608158.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.843T>C
  hgvsp: ENST00000426658.2:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.843T>C
  hgvsp: ENST00000609232.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.843T>C
  hgvsp: ENST00000429804.3:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1505T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.228T>C
  hgvsp: ENST00000433949.3:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.843T>C
  hgvsp: ENST00000423479.3:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.843T>C
  hgvsp: ENST00000608440.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.843T>C
  hgvsp: ENST00000432255.2:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.169T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.843T>C
  hgvsp: ENST00000371196.2:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.169T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.843T>C
  hgvsp: ENST00000608425.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.843T>C
  hgvsp: ENST00000422869.2:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.843T>C
  hgvsp: ENST00000243914.3:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.57T>C
  hgvsp: ENST00000608903.1:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser281Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

20-56094347-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094347
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094347
    reference: chr 20
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.226A>G
  hgvsp: ENSP00000439998.1:p.Ser76Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.841A>G
  hgvsp: ENSP00000476783.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.841A>G
  hgvsp: ENSP00000476398.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.841A>G
  hgvsp: ENSP00000243914.3:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.841A>G
  hgvsp: ENSP00000477165.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.55A>G
  hgvsp: ENSP00000476718.1:p.Ser19Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.841A>G
  hgvsp: ENSP00000360239.2:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.841A>G
  hgvsp: ENSP00000413713.2:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.841A>G
  hgvsp: ENSP00000477412.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.841A>G
  hgvsp: ENSP00000399061.2:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.841A>G
  hgvsp: ENSP00000477488.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.167A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.841A>G
  hgvsp: ENSP00000409344.2:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.841A>G
  hgvsp: ENSP00000476577.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.841A>G
  hgvsp: ENSP00000415329.2:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.841A>G
  hgvsp: ENSP00000476458.1:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.55A>G
  hgvsp: ENSP00000437999.1:p.Ser19Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1503A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.841A>G
  hgvsp: ENSP00000415579.2:p.Ser281Gly
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser281Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

20-56094350-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094350
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094350
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.838A>T
  hgvsp: ENSP00000476398.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.838A>T
  hgvsp: ENSP00000415579.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.838A>T
  hgvsp: ENSP00000399061.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.838A>T
  hgvsp: ENSP00000243914.3:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.838A>T
  hgvsp: ENSP00000360239.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.223A>T
  hgvsp: ENSP00000392034.3:p.Thr75Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.164A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.838A>T
  hgvsp: ENSP00000403369.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.164A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.838A>T
  hgvsp: ENSP00000476783.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.52A>T
  hgvsp: ENSP00000437999.1:p.Thr18Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.838A>T
  hgvsp: ENSP00000409344.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.838A>T
  hgvsp: ENSP00000477488.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.838A>T
  hgvsp: ENSP00000415329.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.52A>T
  hgvsp: ENSP00000476718.1:p.Thr18Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.223A>T
  hgvsp: ENSP00000439998.1:p.Thr75Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.838A>T
  hgvsp: ENSP00000476458.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.838A>T
  hgvsp: ENSP00000477412.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.838A>T
  hgvsp: ENSP00000476577.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr280Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

20-56094351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094351
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094351
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.837C>T
  hgvsp: ENST00000609232.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.837C>T
  hgvsp: ENST00000371196.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.222C>T
  hgvsp: ENST00000433949.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.837C>T
  hgvsp: ENST00000432255.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.222C>T
  hgvsp: ENST00000539382.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.837C>T
  hgvsp: ENST00000423479.3:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.51C>T
  hgvsp: ENST00000502686.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.837C>T
  hgvsp: ENST00000608440.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.837C>T
  hgvsp: ENST00000422869.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.837C>T
  hgvsp: ENST00000429804.3:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.837C>T
  hgvsp: ENST00000608720.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.837C>T
  hgvsp: ENST00000608263.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1499C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.837C>T
  hgvsp: ENST00000608158.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.837C>T
  hgvsp: ENST00000426658.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.51C>T
  hgvsp: ENST00000608903.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.837C>T
  hgvsp: ENST00000243914.3:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.837C>T
  hgvsp: ENST00000608425.1:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.837C>T
  hgvsp: ENST00000481655.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His279His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

20-56094351-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094351
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094351
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.837C>A
  hgvsp: ENSP00000413713.2:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.837C>A
  hgvsp: ENSP00000476783.1:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.163C>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.837C>A
  hgvsp: ENSP00000415329.2:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1499C>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.837C>A
  hgvsp: ENSP00000399061.2:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.837C>A
  hgvsp: ENSP00000476577.1:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.837C>A
  hgvsp: ENSP00000409344.2:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.51C>A
  hgvsp: ENSP00000437999.1:p.His17Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.837C>A
  hgvsp: ENSP00000477165.1:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.837C>A
  hgvsp: ENSP00000476458.1:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.222C>A
  hgvsp: ENSP00000439998.1:p.His74Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.51C>A
  hgvsp: ENSP00000476718.1:p.His17Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.837C>A
  hgvsp: ENSP00000243914.3:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.837C>A
  hgvsp: ENSP00000360239.2:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.222C>A
  hgvsp: ENSP00000392034.3:p.His74Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.837C>A
  hgvsp: ENSP00000477488.1:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.837C>A
  hgvsp: ENSP00000415579.2:p.His279Gln
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.163C>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His279Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-56094364-TGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094364
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094361
    reference: chr 20
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.35_37delGTC
  hgvsp: ENSP00000437999.1:p.Arg12del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.147_149delGTC
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.821_823delGTC
  hgvsp: ENSP00000476783.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.821_823delGTC
  hgvsp: ENSP00000409344.2:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.206_208delGTC
  hgvsp: ENSP00000392034.3:p.Arg69del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.206_208delGTC
  hgvsp: ENSP00000439998.1:p.Arg69del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.821_823delGTC
  hgvsp: ENSP00000403369.2:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.821_823delGTC
  hgvsp: ENSP00000476398.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.821_823delGTC
  hgvsp: ENSP00000415579.2:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1483_1485delGTC
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.821_823delGTC
  hgvsp: ENSP00000399061.2:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.147_149delGTC
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.821_823delGTC
  hgvsp: ENSP00000360239.2:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.821_823delGTC
  hgvsp: ENSP00000476577.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.35_37delGTC
  hgvsp: ENSP00000476718.1:p.Arg12del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.821_823delGTC
  hgvsp: ENSP00000476458.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.821_823delGTC
  hgvsp: ENSP00000477165.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.821_823delGTC
  hgvsp: ENSP00000477412.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.821_823delGTC
  hgvsp: ENSP00000477488.1:p.Arg274del
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg274del
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: TGAC
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

20-56094367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094367
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094367
    reference: chr 20
allele count: 9
allele frequency: 7.41485277397881e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.821G>A
  hgvsp: ENSP00000476783.1:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.147G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.206G>A
  hgvsp: ENSP00000439998.1:p.Arg69His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.821G>A
  hgvsp: ENSP00000243914.3:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.821G>A
  hgvsp: ENSP00000399061.2:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.35G>A
  hgvsp: ENSP00000476718.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.821G>A
  hgvsp: ENSP00000476577.1:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.821G>A
  hgvsp: ENSP00000477488.1:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.821G>A
  hgvsp: ENSP00000360239.2:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.821G>A
  hgvsp: ENSP00000476458.1:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.821G>A
  hgvsp: ENSP00000477412.1:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1483G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.821G>A
  hgvsp: ENSP00000415579.2:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.821G>A
  hgvsp: ENSP00000415329.2:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.821G>A
  hgvsp: ENSP00000476398.1:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.206G>A
  hgvsp: ENSP00000392034.3:p.Arg69His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.35G>A
  hgvsp: ENSP00000437999.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.821G>A
  hgvsp: ENSP00000403369.2:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.821G>A
  hgvsp: ENSP00000409344.2:p.Arg274His
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg274His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

20-56094367-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094367
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094367
    reference: chr 20
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.147G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.821G>C
  hgvsp: ENSP00000477488.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.821G>C
  hgvsp: ENSP00000476458.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.821G>C
  hgvsp: ENSP00000477165.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.821G>C
  hgvsp: ENSP00000243914.3:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.821G>C
  hgvsp: ENSP00000476783.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.821G>C
  hgvsp: ENSP00000409344.2:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.821G>C
  hgvsp: ENSP00000476398.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.35G>C
  hgvsp: ENSP00000476718.1:p.Arg12Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.821G>C
  hgvsp: ENSP00000360239.2:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.206G>C
  hgvsp: ENSP00000439998.1:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.821G>C
  hgvsp: ENSP00000415579.2:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.821G>C
  hgvsp: ENSP00000413713.2:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.821G>C
  hgvsp: ENSP00000477412.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1483G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.147G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.821G>C
  hgvsp: ENSP00000399061.2:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.821G>C
  hgvsp: ENSP00000476577.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.821G>C
  hgvsp: ENSP00000403369.2:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg274Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

20-56094382-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094382
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094382
    reference: chr 20
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.806T>A
  hgvsp: ENSP00000399061.2:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.806T>A
  hgvsp: ENSP00000476783.1:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.806T>A
  hgvsp: ENSP00000413713.2:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.806T>A
  hgvsp: ENSP00000415579.2:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.806T>A
  hgvsp: ENSP00000415329.2:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.806T>A
  hgvsp: ENSP00000409344.2:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.20T>A
  hgvsp: ENSP00000476718.1:p.Met7Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.132T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.191T>A
  hgvsp: ENSP00000392034.3:p.Met64Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.191T>A
  hgvsp: ENSP00000439998.1:p.Met64Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.132T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.806T>A
  hgvsp: ENSP00000476398.1:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.806T>A
  hgvsp: ENSP00000476458.1:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.806T>A
  hgvsp: ENSP00000360239.2:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.806T>A
  hgvsp: ENSP00000477412.1:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1468T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.806T>A
  hgvsp: ENSP00000476577.1:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.20T>A
  hgvsp: ENSP00000437999.1:p.Met7Lys
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.806T>A
  hgvsp: ENSP00000243914.3:p.Met269Lys
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met269Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-56094393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094393
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094393
    reference: chr 20
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.121C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.795C>T
  hgvsp: ENST00000481655.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.795C>T
  hgvsp: ENST00000608158.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.795C>T
  hgvsp: ENST00000608425.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.795C>T
  hgvsp: ENST00000426658.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.795C>T
  hgvsp: ENST00000608263.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.795C>T
  hgvsp: ENST00000422109.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.795C>T
  hgvsp: ENST00000429804.3:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.9C>T
  hgvsp: ENST00000608903.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.795C>T
  hgvsp: ENST00000609232.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.795C>T
  hgvsp: ENST00000371196.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.795C>T
  hgvsp: ENST00000422869.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.180C>T
  hgvsp: ENST00000539382.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.795C>T
  hgvsp: ENST00000432255.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.9C>T
  hgvsp: ENST00000502686.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.180C>T
  hgvsp: ENST00000433949.3:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1457C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.795C>T
  hgvsp: ENST00000608720.1:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.795C>T
  hgvsp: ENST00000243914.3:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr265Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

20-56094394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094394
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094394
    reference: chr 20
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.794C>T
  hgvsp: ENSP00000476783.1:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.794C>T
  hgvsp: ENSP00000243914.3:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.8C>T
  hgvsp: ENSP00000476718.1:p.Thr3Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.794C>T
  hgvsp: ENSP00000409344.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.179C>T
  hgvsp: ENSP00000439998.1:p.Thr60Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.120C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.794C>T
  hgvsp: ENSP00000476577.1:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.794C>T
  hgvsp: ENSP00000415329.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.794C>T
  hgvsp: ENSP00000415579.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.794C>T
  hgvsp: ENSP00000477488.1:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.179C>T
  hgvsp: ENSP00000392034.3:p.Thr60Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.794C>T
  hgvsp: ENSP00000360239.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.794C>T
  hgvsp: ENSP00000399061.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.794C>T
  hgvsp: ENSP00000477412.1:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.794C>T
  hgvsp: ENSP00000413713.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.794C>T
  hgvsp: ENSP00000403369.2:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.794C>T
  hgvsp: ENSP00000477165.1:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.120C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.794C>T
  hgvsp: ENSP00000476458.1:p.Thr265Ile
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr265Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-56094396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094396
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094396
    reference: chr 20
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.118C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.792C>T
  hgvsp: ENST00000423479.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.792C>T
  hgvsp: ENST00000608720.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.792C>T
  hgvsp: ENST00000608263.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.118C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.792C>T
  hgvsp: ENST00000429804.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.792C>T
  hgvsp: ENST00000426658.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.792C>T
  hgvsp: ENST00000481655.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.177C>T
  hgvsp: ENST00000433949.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.792C>T
  hgvsp: ENST00000608158.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.792C>T
  hgvsp: ENST00000432255.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.792C>T
  hgvsp: ENST00000371196.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.792C>T
  hgvsp: ENST00000608425.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.177C>T
  hgvsp: ENST00000539382.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.6C>T
  hgvsp: ENST00000608903.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.6C>T
  hgvsp: ENST00000502686.2:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1454C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.792C>T
  hgvsp: ENST00000609232.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.792C>T
  hgvsp: ENST00000422869.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe264Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

20-56094400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094400
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094400
    reference: chr 20
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.788T>C
  hgvsp: ENSP00000477412.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.788T>C
  hgvsp: ENSP00000403369.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.788T>C
  hgvsp: ENSP00000477488.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.788T>C
  hgvsp: ENSP00000476783.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.2T>C
  hgvsp: ENSP00000437999.1:p.Met1?
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.788T>C
  hgvsp: ENSP00000476398.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.788T>C
  hgvsp: ENSP00000413713.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.173T>C
  hgvsp: ENSP00000439998.1:p.Met58Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.788T>C
  hgvsp: ENSP00000415579.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.788T>C
  hgvsp: ENSP00000476577.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.173T>C
  hgvsp: ENSP00000392034.3:p.Met58Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.788T>C
  hgvsp: ENSP00000415329.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.788T>C
  hgvsp: ENSP00000409344.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.2T>C
  hgvsp: ENSP00000476718.1:p.Met1?
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.788T>C
  hgvsp: ENSP00000477165.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.114T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.788T>C
  hgvsp: ENSP00000360239.2:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.114T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.788T>C
  hgvsp: ENSP00000476458.1:p.Met263Thr
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

20-56094405-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094405
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094405
    reference: chr 20
allele count: 20
allele frequency: 1.648750247312537e-4
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.168C>G
  hgvsp: ENST00000433949.3:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.783C>G
  hgvsp: ENST00000608720.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.783C>G
  hgvsp: ENST00000608158.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.783C>G
  hgvsp: ENST00000608263.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.783C>G
  hgvsp: ENST00000429804.3:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.783C>G
  hgvsp: ENST00000422109.2:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-4C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.783C>G
  hgvsp: ENST00000432255.2:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.168C>G
  hgvsp: ENST00000539382.1:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.783C>G
  hgvsp: ENST00000371196.2:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.783C>G
  hgvsp: ENST00000481655.2:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.783C>G
  hgvsp: ENST00000608440.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.109C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.783C>G
  hgvsp: ENST00000243914.3:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.783C>G
  hgvsp: ENST00000609232.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1445C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.109C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.783C>G
  hgvsp: ENST00000608425.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.783C>G
  hgvsp: ENST00000426658.2:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val261Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/20-56094406-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094406
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094406
    reference: chr 20
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.782T>G
  hgvsp: ENSP00000243914.3:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.782T>G
  hgvsp: ENSP00000477488.1:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-5T>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.782T>G
  hgvsp: ENSP00000403369.2:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.782T>G
  hgvsp: ENSP00000476577.1:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.782T>G
  hgvsp: ENSP00000415329.2:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.782T>G
  hgvsp: ENSP00000477165.1:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.782T>G
  hgvsp: ENSP00000413713.2:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-5T>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.782T>G
  hgvsp: ENSP00000476783.1:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.108T>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.108T>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.167T>G
  hgvsp: ENSP00000439998.1:p.Val56Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.782T>G
  hgvsp: ENSP00000409344.2:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.782T>G
  hgvsp: ENSP00000360239.2:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.782T>G
  hgvsp: ENSP00000476458.1:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.782T>G
  hgvsp: ENSP00000415579.2:p.Val261Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.167T>G
  hgvsp: ENSP00000392034.3:p.Val56Gly
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1444T>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val261Gly
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-56094409-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094409
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094409
    reference: chr 20
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.779A>T
  hgvsp: ENSP00000243914.3:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-8A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.779A>T
  hgvsp: ENSP00000476577.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.779A>T
  hgvsp: ENSP00000477412.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.779A>T
  hgvsp: ENSP00000360239.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.779A>T
  hgvsp: ENSP00000476783.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.164A>T
  hgvsp: ENSP00000439998.1:p.Asp55Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.779A>T
  hgvsp: ENSP00000476398.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.779A>T
  hgvsp: ENSP00000415329.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.779A>T
  hgvsp: ENSP00000477165.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.779A>T
  hgvsp: ENSP00000403369.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.779A>T
  hgvsp: ENSP00000415579.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.779A>T
  hgvsp: ENSP00000476458.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.164A>T
  hgvsp: ENSP00000392034.3:p.Asp55Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.779A>T
  hgvsp: ENSP00000409344.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.779A>T
  hgvsp: ENSP00000413713.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.779A>T
  hgvsp: ENSP00000399061.2:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-8A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.779A>T
  hgvsp: ENSP00000477488.1:p.Asp260Val
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp260Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

20-56094412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094412
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094412
    reference: chr 20
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.776G>A
  hgvsp: ENSP00000476783.1:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.776G>A
  hgvsp: ENSP00000477165.1:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.776G>A
  hgvsp: ENSP00000413713.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.776G>A
  hgvsp: ENSP00000476458.1:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.776G>A
  hgvsp: ENSP00000415329.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.776G>A
  hgvsp: ENSP00000360239.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.776G>A
  hgvsp: ENSP00000243914.3:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.102G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.776G>A
  hgvsp: ENSP00000477488.1:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.161G>A
  hgvsp: ENSP00000439998.1:p.Cys54Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.102G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.161G>A
  hgvsp: ENSP00000392034.3:p.Cys54Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.776G>A
  hgvsp: ENSP00000399061.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.776G>A
  hgvsp: ENSP00000415579.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.776G>A
  hgvsp: ENSP00000403369.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.776G>A
  hgvsp: ENSP00000476577.1:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.776G>A
  hgvsp: ENSP00000409344.2:p.Cys259Tyr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1438G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys259Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

20-56094413-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094413
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094413
    reference: chr 20
allele count: 3
allele frequency: 2.474349246148263e-5
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.160T>A
  hgvsp: ENSP00000392034.3:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.775T>A
  hgvsp: ENSP00000360239.2:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.775T>A
  hgvsp: ENSP00000415329.2:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.775T>A
  hgvsp: ENSP00000413713.2:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.775T>A
  hgvsp: ENSP00000477488.1:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.101T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.775T>A
  hgvsp: ENSP00000477165.1:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.160T>A
  hgvsp: ENSP00000439998.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.775T>A
  hgvsp: ENSP00000476783.1:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-12T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.775T>A
  hgvsp: ENSP00000476577.1:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-12T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.775T>A
  hgvsp: ENSP00000415579.2:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.775T>A
  hgvsp: ENSP00000409344.2:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.775T>A
  hgvsp: ENSP00000243914.3:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.101T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.775T>A
  hgvsp: ENSP00000477412.1:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.775T>A
  hgvsp: ENSP00000403369.2:p.Cys259Ser
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1437T>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys259Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

20-56094420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094420
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094420
    reference: chr 20
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.768C>T
  hgvsp: ENST00000608263.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.768C>T
  hgvsp: ENST00000608440.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.768C>T
  hgvsp: ENST00000608425.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.768C>T
  hgvsp: ENST00000608158.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.768C>T
  hgvsp: ENST00000432255.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.768C>T
  hgvsp: ENST00000429804.3:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.153C>T
  hgvsp: ENST00000433949.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.768C>T
  hgvsp: ENST00000481655.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1430C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.768C>T
  hgvsp: ENST00000371196.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.768C>T
  hgvsp: ENST00000423479.3:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.94C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.768C>T
  hgvsp: ENST00000422109.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.94C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.768C>T
  hgvsp: ENST00000243914.3:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.768C>T
  hgvsp: ENST00000422869.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.768C>T
  hgvsp: ENST00000426658.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.768C>T
  hgvsp: ENST00000609232.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr256Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

20-56094431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094431
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094431
    reference: chr 20
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.757G>A
  hgvsp: ENSP00000476458.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.757G>A
  hgvsp: ENSP00000415329.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.757G>A
  hgvsp: ENSP00000415579.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.142G>A
  hgvsp: ENSP00000392034.3:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.757G>A
  hgvsp: ENSP00000476783.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.757G>A
  hgvsp: ENSP00000409344.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.757G>A
  hgvsp: ENSP00000477488.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.757G>A
  hgvsp: ENSP00000477165.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.757G>A
  hgvsp: ENSP00000360239.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.757G>A
  hgvsp: ENSP00000243914.3:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.757G>A
  hgvsp: ENSP00000403369.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.757G>A
  hgvsp: ENSP00000413713.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-30G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.757G>A
  hgvsp: ENSP00000476398.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.83G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.83G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.142G>A
  hgvsp: ENSP00000439998.1:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala253Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

20-56094432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094432
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094432
    reference: chr 20
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.756A>G
  hgvsp: ENST00000423479.3:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.756A>G
  hgvsp: ENST00000432255.2:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.756A>G
  hgvsp: ENST00000429804.3:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.82A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.756A>G
  hgvsp: ENST00000609232.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.756A>G
  hgvsp: ENST00000422869.2:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.756A>G
  hgvsp: ENST00000608440.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.756A>G
  hgvsp: ENST00000481655.2:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.141A>G
  hgvsp: ENST00000539382.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-31A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.756A>G
  hgvsp: ENST00000608425.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.756A>G
  hgvsp: ENST00000608158.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.756A>G
  hgvsp: ENST00000422109.2:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.756A>G
  hgvsp: ENST00000608263.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.82A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.756A>G
  hgvsp: ENST00000426658.2:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.141A>G
  hgvsp: ENST00000433949.3:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.756A>G
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-56094433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094433
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094433
    reference: chr 20
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755G>A
  hgvsp: ENSP00000477165.1:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755G>A
  hgvsp: ENSP00000477488.1:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755G>A
  hgvsp: ENSP00000476577.1:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755G>A
  hgvsp: ENSP00000477412.1:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755G>A
  hgvsp: ENSP00000243914.3:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755G>A
  hgvsp: ENSP00000399061.2:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755G>A
  hgvsp: ENSP00000415329.2:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755G>A
  hgvsp: ENSP00000476458.1:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755G>A
  hgvsp: ENSP00000360239.2:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140G>A
  hgvsp: ENSP00000392034.3:p.Gly47Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140G>A
  hgvsp: ENSP00000439998.1:p.Gly47Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755G>A
  hgvsp: ENSP00000413713.2:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755G>A
  hgvsp: ENSP00000476398.1:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755G>A
  hgvsp: ENSP00000403369.2:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly252Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

20-56094437-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094437
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094437
    reference: chr 20
allele count: 3
allele frequency: 2.48558361503281e-5
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-4A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.755-4A>G
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

20-56094440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094440
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094440
    reference: chr 20
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-7C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-7C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.755-7C>T
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

20-56094443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094443
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094443
    reference: chr 20
allele count: 262
allele frequency: 2.177961029460664e-3
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-10C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

20-56094453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094453
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094453
    reference: chr 20
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-20A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

20-56094456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094456
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094456
    reference: chr 20
allele count: 5
allele frequency: 4.169794012175799e-5
allele num: 119910
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-23C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-23C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

20-56094457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094457
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094457
    reference: chr 20
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-24A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

20-56094459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094459
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094459
    reference: chr 20
allele count: 3
allele frequency: 2.503964610633503e-5
allele num: 119810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-26A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

20-56094466-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094466
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094465
    reference: chr 20
allele count: 6
allele frequency: 5.019660336317242e-5
allele num: 119530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-34delT
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-56094467-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094467
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094467
    reference: chr 20
allele count: 14
allele frequency: 1.171606942607997e-4
allele num: 119494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-34T>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

20-56094469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094469
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094469
    reference: chr 20
allele count: 295
allele frequency: 2.470479859308266e-3
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1417-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-36C>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 3
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

20-56094478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56094478
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56094478
    reference: chr 20
allele count: 19
allele frequency: 1.599084313824505e-4
allele num: 118818
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-32-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.81-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.140-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.140-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-32-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.81-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.755-45G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

20-56098078-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098078
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098078
    reference: chr 20
allele count: 1
allele frequency: 8.445375312478886e-6
allele num: 118408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+2006C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+2006C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+2006C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+2006C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+46C>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

20-56098085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098085
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098085
    reference: chr 20
allele count: 3
allele frequency: 2.528189310815594e-5
allele num: 118662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1999T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1999T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1999T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+39T>C
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

20-56098086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098086
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098086
    reference: chr 20
allele count: 3
allele frequency: 2.528231923141749e-5
allele num: 118660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1998C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1998C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1998C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+38C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+38C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

20-56098096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098096
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098096
    reference: chr 20
allele count: 20
allele frequency: 1.678246567985769e-4
allele num: 119172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1988C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1988C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1988C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1988C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+28C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

20-56098098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098098
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098098
    reference: chr 20
allele count: 6
allele frequency: 5.028241959003067e-5
allele num: 119326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1986C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1986C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1986C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+26C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-56098102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098102
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098102
    reference: chr 20
allele count: 1
allele frequency: 8.370442294170824e-6
allele num: 119468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1982A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1982A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1982A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1982A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+22A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

20-56098103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098103
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098103
    reference: chr 20
allele count: 2
allele frequency: 1.673836265336525e-5
allele num: 119486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1981G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1981G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1981G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1981G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+21G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

20-56098111-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098111
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098111
    reference: chr 20
allele count: 2
allele frequency: 1.664198106142555e-5
allele num: 120178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1973A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1973A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1973A>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+13A>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

20-56098112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098112
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098112
    reference: chr 20
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1972C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1972C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1972C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1972C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+12C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

20-56098119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098119
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098119
    reference: chr 20
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1965G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1965G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1965G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+5G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.754+5G>A
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

20-56098120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098120
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098120
    reference: chr 20
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1416+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477412
  ensembl transcript: ENST00000608720
  gene symbol: CTCFL
  hgvsc: ENST00000608720.1:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.139+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.139+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.754+4G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1964G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1964G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1964G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1964G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.754+4G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

20-56098129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56098129
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56098129
    reference: chr 20
allele count: 5
allele frequency: 4.136470432509349e-5
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476458
  ensembl transcript: ENST00000608425
  gene symbol: CTCFL
  hgvsc: ENST00000608425.1:c.749C>T
  hgvsp: ENSP00000476458.1:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000439998
  ensembl transcript: ENST00000539382
  gene symbol: CTCFL
  hgvsc: ENST00000539382.1:c.134C>T
  hgvsp: ENSP00000439998.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.-33+1955C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477165
  ensembl transcript: ENST00000608158
  gene symbol: CTCFL
  hgvsc: ENST00000608158.1:c.749C>T
  hgvsp: ENSP00000477165.1:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.134C>T
  hgvsp: ENSP00000392034.3:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.749C>T
  hgvsp: ENSP00000360239.2:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.749C>T
  hgvsp: ENSP00000415579.2:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608108
  gene symbol: CTCFL
  hgvsc: ENST00000608108.1:n.80+1955C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.749C>T
  hgvsp: ENSP00000243914.3:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000409344
  ensembl transcript: ENST00000432255
  gene symbol: CTCFL
  hgvsc: ENST00000432255.2:c.749C>T
  hgvsp: ENSP00000409344.2:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.749C>T
  hgvsp: ENSP00000476398.1:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476718
  ensembl transcript: ENST00000608903
  gene symbol: CTCFL
  hgvsc: ENST00000608903.1:c.-33+1955C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000399061
  ensembl transcript: ENST00000422869
  gene symbol: CTCFL
  hgvsc: ENST00000422869.2:c.749C>T
  hgvsp: ENSP00000399061.2:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000607923
  gene symbol: CTCFL
  hgvsc: ENST00000607923.1:n.1411C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.749C>T
  hgvsp: ENSP00000403369.2:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.749C>T
  hgvsp: ENSP00000413713.2:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476577
  ensembl transcript: ENST00000481655
  gene symbol: CTCFL
  hgvsc: ENST00000481655.2:c.749C>T
  hgvsp: ENSP00000476577.1:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl transcript: ENST00000608858
  gene symbol: CTCFL
  hgvsc: ENST00000608858.1:n.80+1955C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.749C>T
  hgvsp: ENSP00000477488.1:p.Thr250Ile
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr250Ile
num of homozygotes: 0
population: South Asian
population: African
reference allele: G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.228G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000439998
ensembl transcript: ENST00000539382
gene symbol: CTCFL
hgvsc: ENST00000539382.1:c.287G>A
hgvsp: ENSP00000439998.1:p.Arg96Gln
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.902G>A
hgvsp: ENSP00000243914.3:p.Arg301Gln
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1173
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9453
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10273
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7897
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2000
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28748
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11317
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 2.325447e6

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 4.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.901C>T
hgvsp: ENSP00000413713.2:p.Arg301Trp
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476577
ensembl transcript: ENST00000481655
gene symbol: CTCFL
hgvsc: ENST00000481655.2:c.901C>T
hgvsp: ENSP00000476577.1:p.Arg301Trp
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.115C>T
hgvsp: ENSP00000437999.1:p.Arg39Trp
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7948
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10276
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7894
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9467
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28748
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.71e-2

FS
type: SiteQuality
SIO_000300: 3.469e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 7.86e0

DP
type: SiteQuality
SIO_000300: 2.325463e6

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415579
ensembl transcript: ENST00000423479
gene symbol: CTCFL
hgvsc: ENST00000423479.3:c.900G>A
hgvsp: ENST00000423479.3:c.900G>A(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.900G>A
hgvsp: ENST00000243914.3:c.900G>A(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.226G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10273
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7947
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9470
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3658
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7891
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28750
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

DP
type: SiteQuality
SIO_000300: 2.325682e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.888G>T
hgvsp: ENST00000422109.2:c.888G>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608858
gene symbol: CTCFL
hgvsc: ENST00000608858.1:n.214G>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1550G>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7880
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9565
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3659
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10275
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9503
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11366
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 1.805e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.019e0

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 2.325975e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.210G>C
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.884G>C
hgvsp: ENSP00000399061.2:p.Arg295Pro
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476458
ensembl transcript: ENST00000608425
gene symbol: CTCFL
hgvsc: ENST00000608425.1:c.884G>C
hgvsp: ENSP00000476458.1:p.Arg295Pro
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7882
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7945
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3658
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9509
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10280
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 8.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 2.326194e6

FS
type: SiteQuality
SIO_000300: 2.865e0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1546G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.884G>A
hgvsp: ENSP00000403369.2:p.Arg295His
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476718
ensembl transcript: ENST00000608903
gene symbol: CTCFL
hgvsc: ENST00000608903.1:c.98G>A
hgvsp: ENSP00000476718.1:p.Arg33His
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7882
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3658
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9509
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10280
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7945
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28751
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 2.865e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 2.326194e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 8.94e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.883C>T
hgvsp: ENSP00000476398.1:p.Arg295Cys
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.883C>T
hgvsp: ENSP00000477412.1:p.Arg295Cys
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.209C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 2000
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7946
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7883
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10272
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9567
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5728
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9515
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28750
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11388
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.326215e6

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 6.558e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.883C>G
hgvsp: ENSP00000403369.2:p.Arg295Gly
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.883C>G
hgvsp: ENSP00000476398.1:p.Arg295Gly
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.97C>G
hgvsp: ENSP00000437999.1:p.Arg33Gly
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7883
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9567
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7946
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5728
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10272
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9515
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2000
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28750
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11388
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.326215e6

FS
type: SiteQuality
SIO_000300: 6.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.219e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.875A>G
hgvsp: ENSP00000403369.2:p.Lys292Arg
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.201A>G
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.875A>G
hgvsp: ENSP00000476398.1:p.Lys292Arg
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 1172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7891
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7944
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9564
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2001
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9519
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.476e0

MQRankSum
type: SiteQuality
SIO_000300: -1.308e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

DP
type: SiteQuality
SIO_000300: 2.326198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.574e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.872T>C
hgvsp: ENSP00000243914.3:p.Leu291Pro
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.872T>C
hgvsp: ENSP00000476398.1:p.Leu291Pro
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476458
ensembl transcript: ENST00000608425
gene symbol: CTCFL
hgvsc: ENST00000608425.1:c.872T>C
hgvsp: ENSP00000476458.1:p.Leu291Pro
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7936
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 7.75e1
variant carriers: 8

GenotypeDepth
all individuals: 10259
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2003
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9498
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 785
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 7870
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9557
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 9.25e1
variant carriers: 7

GenotypeDepth
all individuals: 3656
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 8.75e1
variant carriers: 11

GenotypeDepth
all individuals: 384
bin: 9.75e1
variant carriers: 29

GenotypeDepth
all individuals: 620
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1174
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28803
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 71
allele frequency: 4.299903100775194e-3
allele num: 16512
num of homozygotes: 2

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.33061e6

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.705e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

FS
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.864C>A
hgvsp: ENSP00000413713.2:p.His288Gln
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000439998
ensembl transcript: ENST00000539382
gene symbol: CTCFL
hgvsc: ENST00000539382.1:c.249C>A
hgvsp: ENSP00000439998.1:p.His83Gln
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608858
gene symbol: CTCFL
hgvsc: ENST00000608858.1:n.190C>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 10271
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9526
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7944
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28757
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.326992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 1.786e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.241e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.78C>T
hgvsp: ENST00000502686.2:c.78C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.864C>T
hgvsp: ENST00000608720.1:c.864C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.864C>T
hgvsp: ENST00000243914.3:c.864C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7944
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10271
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9526
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7867
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.786e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 2.326992e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.241e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476458
ensembl transcript: ENST00000608425
gene symbol: CTCFL
hgvsc: ENST00000608425.1:c.859T>C
hgvsp: ENSP00000476458.1:p.Cys287Arg
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.859T>C
hgvsp: ENSP00000477488.1:p.Cys287Arg
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.859T>C
hgvsp: ENSP00000477412.1:p.Cys287Arg
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9526
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9561
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7869
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10271
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7945
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28756
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 5.888e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 2.326894e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1518C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.856C>T
hgvsp: ENST00000243914.3:c.856C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.182C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9519
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10278
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7945
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7869
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9560
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 2.413e0

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.464e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.326866e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476577
ensembl transcript: ENST00000481655
gene symbol: CTCFL
hgvsc: ENST00000481655.2:c.843T>C
hgvsp: ENST00000481655.2:c.843T>C(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.843T>C
hgvsp: ENST00000422109.2:c.843T>C(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.843T>C
hgvsp: ENST00000608720.1:c.843T>C(p.%3D)
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9522
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7868
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7946
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9560
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.326785e6

FS
type: SiteQuality
SIO_000300: 2.534e0

VQSLOD
type: SiteQuality
SIO_000300: -7.489e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.597e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.546e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.167A>G
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000392034
ensembl transcript: ENST00000433949
gene symbol: CTCFL
hgvsc: ENST00000433949.3:c.226A>G
hgvsp: ENSP00000392034.3:p.Ser76Gly
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.841A>G
hgvsp: ENSP00000403369.2:p.Ser281Gly
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 1177
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7946
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9558
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9518
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 10272
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28758
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 2.326996e6

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.294e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1500A>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477165
ensembl transcript: ENST00000608158
gene symbol: CTCFL
hgvsc: ENST00000608158.1:c.838A>T
hgvsp: ENSP00000477165.1:p.Thr280Ser
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.838A>T
hgvsp: ENSP00000413713.2:p.Thr280Ser
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7947
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7856
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10273
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9527
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
SIO_000300: 4.127e0

QD
type: SiteQuality
SIO_000300: 1.576e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.326735e6

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.163C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.837C>T
hgvsp: ENST00000422109.2:c.837C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608858
gene symbol: CTCFL
hgvsc: ENST00000608858.1:n.163C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7947
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9524
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9560
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7858
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10272
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3666
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.326797e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

FS
type: SiteQuality
SIO_000300: 1.1382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.068e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.837C>A
hgvsp: ENSP00000477412.1:p.His279Gln
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.837C>A
hgvsp: ENSP00000476398.1:p.His279Gln
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.837C>A
hgvsp: ENSP00000403369.2:p.His279Gln
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 354
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9560
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7858
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3666
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9524
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7947
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11403
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

FS
type: SiteQuality
SIO_000300: 1.1382e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.326797e6

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415329
ensembl transcript: ENST00000429804
gene symbol: CTCFL
hgvsc: ENST00000429804.3:c.821_823delGTC
hgvsp: ENSP00000415329.2:p.Arg274del
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.821_823delGTC
hgvsp: ENSP00000243914.3:p.Arg274del
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: inframe_deletion
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.821_823delGTC
hgvsp: ENSP00000413713.2:p.Arg274del
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7860
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7948
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9523
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3901
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 9.708e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

DP
type: SiteQuality
SIO_000300: 2.326739e6

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.821G>A
hgvsp: ENSP00000413713.2:p.Arg274His
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608858
gene symbol: CTCFL
hgvsc: ENST00000608858.1:n.147G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477165
ensembl transcript: ENST00000608158
gene symbol: CTCFL
hgvsc: ENST00000608158.1:c.821G>A
hgvsp: ENSP00000477165.1:p.Arg274His
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7856
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5732
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7948
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9519
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1177
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28760
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3941
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049129222745122e-4
allele num: 66722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 2.327766e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415329
ensembl transcript: ENST00000429804
gene symbol: CTCFL
hgvsc: ENST00000429804.3:c.821G>C
hgvsp: ENSP00000415329.2:p.Arg274Pro
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000392034
ensembl transcript: ENST00000433949
gene symbol: CTCFL
hgvsc: ENST00000433949.3:c.206G>C
hgvsp: ENSP00000392034.3:p.Arg69Pro
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.35G>C
hgvsp: ENSP00000437999.1:p.Arg12Pro
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9519
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5732
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7948
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1177
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7856
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3941
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28760
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 2.327766e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.214e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.806T>A
hgvsp: ENSP00000403369.2:p.Met269Lys
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477165
ensembl transcript: ENST00000608158
gene symbol: CTCFL
hgvsc: ENST00000608158.1:c.806T>A
hgvsp: ENSP00000477165.1:p.Met269Lys
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.806T>A
hgvsp: ENSP00000477488.1:p.Met269Lys
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7948
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9558
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5732
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10260
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7851
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9521
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1177
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28757
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.539e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.713e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

DP
type: SiteQuality
SIO_000300: 2.326517e6

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415579
ensembl transcript: ENST00000423479
gene symbol: CTCFL
hgvsc: ENST00000423479.3:c.795C>T
hgvsp: ENST00000423479.3:c.795C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.121C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.795C>T
hgvsp: ENST00000608440.1:c.795C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7844
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.785e0

DP
type: SiteQuality
SIO_000300: 2.326221e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

FS
type: SiteQuality
SIO_000300: 3.762e0

QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.794C>T
hgvsp: ENSP00000476398.1:p.Thr265Ile
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1456C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.8C>T
hgvsp: ENSP00000437999.1:p.Thr3Ile
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9500
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7846
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9557
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11385
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

DP
type: SiteQuality
SIO_000300: 2.32617e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 3.402e0

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.792C>T
hgvsp: ENST00000243914.3:c.792C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.792C>T
hgvsp: ENST00000608440.1:c.792C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000413713
ensembl transcript: ENST00000422109
gene symbol: CTCFL
hgvsc: ENST00000422109.2:c.792C>T
hgvsp: ENST00000422109.2:c.792C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9556
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9491
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7950
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7841
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28758
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

FS
type: SiteQuality
SIO_000300: 1.722e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

DP
type: SiteQuality
SIO_000300: 2.326034e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.643e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1450T>C
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.788T>C
hgvsp: ENSP00000243914.3:p.Met263Thr
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.788T>C
hgvsp: ENSP00000399061.2:p.Met263Thr
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 3664
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9556
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 237
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10252
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9490
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5733
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7843
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28759
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.325895e6

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 3.553e0

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.-4C>G
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415579
ensembl transcript: ENST00000423479
gene symbol: CTCFL
hgvsc: ENST00000423479.3:c.783C>G
hgvsp: ENST00000423479.3:c.783C>G(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.783C>G
hgvsp: ENST00000422869.2:c.783C>G(p.%3D)
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7947
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 9.75e1
variant carriers: 17

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9551
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7827
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10246
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1174
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28764
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.3998800059997e-4
allele num: 66670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.126e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

DP
type: SiteQuality
SIO_000300: 2.327397e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.782T>G
hgvsp: ENSP00000477412.1:p.Val261Gly
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.782T>G
hgvsp: ENSP00000399061.2:p.Val261Gly
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.782T>G
hgvsp: ENSP00000476398.1:p.Val261Gly
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9553
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7950
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10245
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9478
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7821
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.745e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 2.325525e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.105A>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1441A>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608858
gene symbol: CTCFL
hgvsc: ENST00000608858.1:n.105A>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 622
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9469
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10247
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7950
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7812
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9555
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.325446e6

FS
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.776G>A
hgvsp: ENSP00000477412.1:p.Cys259Tyr
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.776G>A
hgvsp: ENSP00000476398.1:p.Cys259Tyr
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.-11G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 9561
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10250
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9458
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7785
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

DP
type: SiteQuality
SIO_000300: 2.325127e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.214e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.118e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476398
ensembl transcript: ENST00000609232
gene symbol: CTCFL
hgvsc: ENST00000609232.1:c.775T>A
hgvsp: ENSP00000476398.1:p.Cys259Ser
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.775T>A
hgvsp: ENSP00000399061.2:p.Cys259Ser
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476458
ensembl transcript: ENST00000608425
gene symbol: CTCFL
hgvsc: ENST00000608425.1:c.775T>A
hgvsp: ENSP00000476458.1:p.Cys259Ser
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3666
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10245
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7782
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9458
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9558
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28758
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501935832407936e-5
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.324892e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.486e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.-19C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.768C>T
hgvsp: ENST00000608720.1:c.768C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000439998
ensembl transcript: ENST00000539382
gene symbol: CTCFL
hgvsc: ENST00000539382.1:c.153C>T
hgvsp: ENST00000539382.1:c.153C>T(p.%3D)
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 156
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7653
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9561
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2008
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10246
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7957
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9438
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

DP
type: SiteQuality
SIO_000300: 2.323523e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.757G>A
hgvsp: ENSP00000399061.2:p.Ala253Thr
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476577
ensembl transcript: ENST00000481655
gene symbol: CTCFL
hgvsc: ENST00000481655.2:c.757G>A
hgvsp: ENSP00000476577.1:p.Ala253Thr
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.757G>A
hgvsp: ENSP00000477412.1:p.Ala253Thr
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1419G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 9350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7326
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7958
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9561
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3666
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10250
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3885
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3933
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3697
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 2.1011e1

DP
type: SiteQuality
SIO_000300: 2.318916e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000360239
ensembl transcript: ENST00000371196
gene symbol: CTCFL
hgvsc: ENST00000371196.2:c.756A>G
hgvsp: ENST00000371196.2:c.756A>G(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476718
ensembl transcript: ENST00000608903
gene symbol: CTCFL
hgvsc: ENST00000608903.1:c.-31A>G
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.756A>G
hgvsp: ENST00000608720.1:c.756A>G(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.756A>G
hgvsp: ENST00000243914.3:c.756A>G(p.%3D)
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1418A>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10244
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9551
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7955
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9353
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7338
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28753
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 2.318628e6

FS
type: SiteQuality
SIO_000300: 1.278e0

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.68e-1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000409344
ensembl transcript: ENST00000432255
gene symbol: CTCFL
hgvsc: ENST00000432255.2:c.755G>A
hgvsp: ENSP00000409344.2:p.Gly252Glu
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1417G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476783
ensembl transcript: ENST00000608263
gene symbol: CTCFL
hgvsc: ENST00000608263.1:c.755G>A
hgvsp: ENSP00000476783.1:p.Gly252Glu
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: true
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415579
ensembl transcript: ENST00000423479
gene symbol: CTCFL
hgvsc: ENST00000423479.3:c.755G>A
hgvsp: ENSP00000415579.2:p.Gly252Glu
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7283
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5733
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9332
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10244
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7958
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9555
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137981831573779e-5
allele num: 16292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.949e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

DP
type: SiteQuality
SIO_000300: 2.317959e6

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.81-4A>G
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.755-4A>G
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.755-4A>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 5731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 647
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7110
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9549
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7953
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9237
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 784
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10199
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28754
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010416039496658e-5
allele num: 66436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 5.991e1

FS
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 2.313585e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476458
ensembl transcript: ENST00000608425
gene symbol: CTCFL
hgvsc: ENST00000608425.1:c.755-7C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.755-7C>T
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.755-7C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 237
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6904
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2006
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9106
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7949
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10152
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9540
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.883e-1

FS
type: SiteQuality
SIO_000300: 4.868e0

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.028e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.952e0

DP
type: SiteQuality
SIO_000300: 2.307956e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000360239
ensembl transcript: ENST00000371196
gene symbol: CTCFL
hgvsc: ENST00000371196.2:c.755-10C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 328
bin: 8.25e1
variant carriers: 9

GenotypeDepth
all individuals: 449
bin: 7.75e1
variant carriers: 17

GenotypeDepth
all individuals: 1164
bin: 6.25e1
variant carriers: 9

GenotypeDepth
all individuals: 775
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 7911
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5700
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 6805
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 9014
bin: 2.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1040
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 455
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10065
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9490
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 250
bin: 8.75e1
variant carriers: 17

GenotypeDepth
all individuals: 576
bin: 9.75e1
variant carriers: 158

GenotypeDepth
all individuals: 618
bin: 7.25e1
variant carriers: 10

GenotypeDepth
all individuals: 173
bin: 9.25e1
variant carriers: 12

GenotypeDepth
all individuals: 3651
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1996
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3916
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28788
bin: 9.75e1
variant carriers: 262

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 242
allele frequency: 3.650075414781297e-3
allele num: 66300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.77000777000777e-4
allele num: 10296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.03951367781155e-4
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.658008658008658e-4
allele num: 11550
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

FS
type: SiteQuality
SIO_000300: 1.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 2.333128e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.81-20A>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 8537
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9973
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2152
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7923
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1181
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9493
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5771
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3677
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5714
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.634e0

MQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

DP
type: SiteQuality
SIO_000300: 2.292889e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.727e1

FS
type: SiteQuality
SIO_000300: 1.2641e1

QD
type: SiteQuality
SIO_000300: 1.703e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.755-23C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7925
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5714
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5443
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 690
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2483
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9934
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9490
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3677
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8360
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28788
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.551729346020239e-5
allele num: 66210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.578e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 2.287062e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000409344
ensembl transcript: ENST00000432255
gene symbol: CTCFL
hgvsc: ENST00000432255.2:c.755-24A>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 5714
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 734
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7925
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3675
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5443
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8363
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9927
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2482
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28786
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 2.28685e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.81-26A>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3675
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8239
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9903
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7924
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5207
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5714
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9485
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2688
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28787
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7539
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.600104004160167e-4
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.308e0

QD
type: SiteQuality
SIO_000300: 1.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 2.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.748e0

DP
type: SiteQuality
SIO_000300: 2.282988e6

VQSLOD
type: SiteQuality
SIO_000300: -2.286e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.81-34delT
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 7924
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9483
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7865
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3677
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2021
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3033
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9818
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5711
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 795
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4585
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3918
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28790
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.08155234001332e-5
allele num: 66068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.271681e6

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.859e0

QD
type: SiteQuality
SIO_000300: 1.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.755-34T>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 2022
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7815
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3043
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 796
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1187
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7922
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3677
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1604
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4509
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5712
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9477
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 9803
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28790
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 3916
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.508120649651972e-3
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.270424e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477488
ensembl transcript: ENST00000608440
gene symbol: CTCFL
hgvsc: ENST00000608440.1:c.755-36C>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 3678
bin: 5.25e1
variant carriers: 18

GenotypeDepth
all individuals: 1799
bin: 1.75e1
variant carriers: 13

GenotypeDepth
all individuals: 7900
bin: 4.25e1
variant carriers: 10

GenotypeDepth
all individuals: 3061
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 7700
bin: 2.75e1
variant carriers: 6

GenotypeDepth
all individuals: 4354
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 454
bin: 7.75e1
variant carriers: 15

GenotypeDepth
all individuals: 1212
bin: 6.25e1
variant carriers: 35

GenotypeDepth
all individuals: 9438
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 183
bin: 9.25e1
variant carriers: 16

GenotypeDepth
all individuals: 848
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 5696
bin: 4.75e1
variant carriers: 12

GenotypeDepth
all individuals: 260
bin: 8.75e1
variant carriers: 18

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 7.25e1
variant carriers: 24

GenotypeDepth
all individuals: 9745
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 807
bin: 6.75e1
variant carriers: 18

GenotypeDepth
all individuals: 452
bin: 9.75e1
variant carriers: 38

GenotypeDepth
all individuals: 2034
bin: 5.75e1
variant carriers: 25

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 23

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6174
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3623
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1237
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28923
bin: 9.75e1
variant carriers: 290

African
type: Population
allele count: 279
allele frequency: 2.716121495327103e-2
allele num: 10272
num of homozygotes: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.538674991328477e-4
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.355704697986577e-3
allele num: 894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 2.276942e6

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.621e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000607923
gene symbol: CTCFL
hgvsc: ENST00000607923.1:n.1417-45G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 250
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7258
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9608
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1082
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2948
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2038
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 813
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 629
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9446
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 346
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4286
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2320
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3690
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7923
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5715
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 451
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 427
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28853
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 5118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.206223873664654e-3
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 2.263607e6

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000243914
ensembl transcript: ENST00000243914
gene symbol: CTCFL
hgvsc: ENST00000243914.3:c.754+46C>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 19264
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5696
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2726
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2930
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6967
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13317
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2447
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 691
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8120
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524204365321302e-5
allele num: 65608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.518e1

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e0

DP
type: SiteQuality
SIO_000300: 1.909078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.468e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.80+1999T>C
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1293
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2719
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5684
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8254
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2546
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19595
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1442
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25314
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8344
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044232701147676e-5
allele num: 65698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.422e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

DP
type: SiteQuality
SIO_000300: 1.921228e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.-33+1998C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 379
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2458
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2718
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1442
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1207
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13366
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8397
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5686
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19620
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8342
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.566905160602831e-5
allele num: 65690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.922954e6

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.621e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.611e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.754+28C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 916
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5678
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 597
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13413
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 625
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1440
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19946
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2722
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1621
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 695
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9797
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8343
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27318
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.559454191033138e-3
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.471619510501649e-4
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.940449e6

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 3.015e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

QD
type: SiteQuality
SIO_000300: 1.45e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.80+1986C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 5678
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1484
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1443
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20049
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13434
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 691
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 949
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9921
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 596
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8329
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.469812630117973e-4
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.949317738791423e-4
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.597e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.943072e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.397e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.754+22A>G
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 5687
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10235
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20175
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13455
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2724
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 918
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.729e1

VQSLOD
type: SiteQuality
SIO_000300: -2.935e-1

DP
type: SiteQuality
SIO_000300: 1.94865e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000392034
ensembl transcript: ENST00000433949
gene symbol: CTCFL
hgvsc: ENST00000433949.3:c.139+21G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 689
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13471
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20240
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5689
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10253
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2719
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 596
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27919
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028192471913515e-5
allele num: 66046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.044e1

VQSLOD
type: SiteQuality
SIO_000300: -1.664e-1

DP
type: SiteQuality
SIO_000300: 1.95035e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl transcript: ENST00000608108
gene symbol: CTCFL
hgvsc: ENST00000608108.1:n.80+1973A>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 13528
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5681
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10804
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2722
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018321209743141e-5
allele num: 66262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

DP
type: SiteQuality
SIO_000300: 1.960652e6

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 1.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 1.197e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476577
ensembl transcript: ENST00000481655
gene symbol: CTCFL
hgvsc: ENST00000481655.2:c.754+12C>T
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 2720
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 648
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5685
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10845
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13542
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20511
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8320
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.256256256256256e-5
allele num: 15984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.472e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.961743e6

QD
type: SiteQuality
SIO_000300: 1.605e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476577
ensembl transcript: ENST00000481655
gene symbol: CTCFL
hgvsc: ENST00000481655.2:c.754+5G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477165
ensembl transcript: ENST00000608158
gene symbol: CTCFL
hgvsc: ENST00000608158.1:c.754+5G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000437999
ensembl transcript: ENST00000502686
gene symbol: CTCFL
hgvsc: ENST00000502686.2:c.-33+1965G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 20738
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13645
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10960
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5700
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2727
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1856
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8319
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29280
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.184291898577613e-5
allele num: 16170
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.22e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 1.402e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.208e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.317e0

DP
type: SiteQuality
SIO_000300: 1.969322e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000399061
ensembl transcript: ENST00000422869
gene symbol: CTCFL
hgvsc: ENST00000422869.2:c.754+4G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476458
ensembl transcript: ENST00000608425
gene symbol: CTCFL
hgvsc: ENST00000608425.1:c.754+4G>A
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000403369
ensembl transcript: ENST00000426658
gene symbol: CTCFL
hgvsc: ENST00000426658.2:c.754+4G>A
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5696
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2722
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10975
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13659
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20783
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8318
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 6.922e0

QD
type: SiteQuality
SIO_000300: 1.065e1

MQ
type: SiteQuality
SIO_000300: 6.024e1

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.970537e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.41e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000415329
ensembl transcript: ENST00000429804
gene symbol: CTCFL
hgvsc: ENST00000429804.3:c.749C>T
hgvsp: ENSP00000415329.2:p.Thr250Ile
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000476783
ensembl transcript: ENST00000608263
gene symbol: CTCFL
hgvsc: ENST00000608263.1:c.749C>T
hgvsp: ENSP00000476783.1:p.Thr250Ile
variant of: http://identifiers.org/hgnc/16234

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124092
ensembl protein: ENSP00000477412
ensembl transcript: ENST00000608720
gene symbol: CTCFL
hgvsc: ENST00000608720.1:c.749C>T
hgvsp: ENSP00000477412.1:p.Thr250Ile
variant of: http://identifiers.org/hgnc/16234

GenotypeDepth
all individuals: 227
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20977
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2720
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 917
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11093
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1432
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5705
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8319
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.843084075939558e-4
allele num: 10324
num of homozygotes: 0