20-56073589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073589
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073589
    reference: chr 20
allele count: 2
allele frequency: 1.667194611627015e-5
allele num: 119962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*17G>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.1988+21G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*17G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20083
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

20-56073590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073590
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073590
    reference: chr 20
allele count: 10
allele frequency: 8.331389342486753e-5
allele num: 120028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*16C>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.1988+20C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/20-56073595-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073595
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073595
    reference: chr 20
allele count: 933
allele frequency: 7.750714428125208e-3
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*11G>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*11G>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.1988+15G>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*11G>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*11G>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*11G>T
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 36
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

20-56073596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073596
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073596
    reference: chr 20
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1988+14G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*10G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*10G>C
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*10G>C
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-56073596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073596
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073596
    reference: chr 20
allele count: 6
allele frequency: 4.982643790795396e-5
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*10G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*10G>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.1988+14G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*10G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19935
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-56073597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073597
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073597
    reference: chr 20
allele count: 9
allele frequency: 7.465410265768606e-5
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*9C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*9C>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.1988+13C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*9C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19930
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

20-56073601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073601
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073601
    reference: chr 20
allele count: 4
allele frequency: 3.31356241094801e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.*5G>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.1988+9G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.*5G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19929
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

20-56073618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073618
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073618
    reference: chr 20
allele count: 7
allele frequency: 5.775101064268625e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1830G>A
  hgvsp: ENST00000429804.3:c.1830G>A(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.1980G>A
  hgvsp: ENST00000243914.3:c.1980G>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.1980G>A
  hgvsp: ENST00000609232.1:c.1980G>A(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.1980G>A
  hgvsp: ENST00000423479.3:c.1980G>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.1980G>A
  hgvsp: ENST00000371196.2:c.1980G>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.1980G>A
  hgvsp: ENST00000608263.1:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16753
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19929
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr660Thr
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

20-56073619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073619
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073619
    reference: chr 20
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
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.1829C>T
  hgvsp: ENSP00000415329.2:p.Thr610Met
  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.1979C>T
  hgvsp: ENSP00000243914.3:p.Thr660Met
  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.1979C>T
  hgvsp: ENSP00000476783.1:p.Thr660Met
  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.1979C>T
  hgvsp: ENSP00000360239.2:p.Thr660Met
  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.1979C>T
  hgvsp: ENSP00000415579.2:p.Thr660Met
  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.1979C>T
  hgvsp: ENSP00000476398.1:p.Thr660Met
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr660Met
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

20-56073641-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073641
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073641
    reference: chr 20
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1807A>G
  hgvsp: ENSP00000415329.2:p.Thr603Ala
  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.1957A>G
  hgvsp: ENSP00000476783.1:p.Thr653Ala
  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.1957A>G
  hgvsp: ENSP00000415579.2:p.Thr653Ala
  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.1957A>G
  hgvsp: ENSP00000243914.3:p.Thr653Ala
  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.1957A>G
  hgvsp: ENSP00000476398.1:p.Thr653Ala
  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.1957A>G
  hgvsp: ENSP00000360239.2:p.Thr653Ala
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr653Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

20-56073644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073644
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073644
    reference: chr 20
allele count: 533
allele frequency: 4.391747140832537e-3
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1954G>A
  hgvsp: ENSP00000476398.1:p.Val652Met
  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.1954G>A
  hgvsp: ENSP00000360239.2:p.Val652Met
  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.1954G>A
  hgvsp: ENSP00000243914.3:p.Val652Met
  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.1804G>A
  hgvsp: ENSP00000415329.2:p.Val602Met
  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.1954G>A
  hgvsp: ENSP00000476783.1:p.Val652Met
  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.1954G>A
  hgvsp: ENSP00000415579.2:p.Val652Met
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19939
  bin: 9.75e1
  variant carriers: 522
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6372
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val652Met
num of homozygotes: 11
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

20-56073645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073645
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073645
    reference: chr 20
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1803C>T
  hgvsp: ENST00000429804.3:c.1803C>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.1953C>T
  hgvsp: ENST00000423479.3:c.1953C>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.1953C>T
  hgvsp: ENST00000609232.1:c.1953C>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.1953C>T
  hgvsp: ENST00000243914.3:c.1953C>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.1953C>T
  hgvsp: ENST00000608263.1:c.1953C>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.1953C>T
  hgvsp: ENST00000371196.2:c.1953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly651Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

20-56073645-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073645
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073645
    reference: chr 20
allele count: 6
allele frequency: 4.943642475776152e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1953C>G
  hgvsp: ENST00000243914.3:c.1953C>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.1953C>G
  hgvsp: ENST00000608263.1:c.1953C>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.1953C>G
  hgvsp: ENST00000371196.2:c.1953C>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.1803C>G
  hgvsp: ENST00000429804.3:c.1803C>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.1953C>G
  hgvsp: ENST00000609232.1:c.1953C>G(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.1953C>G
  hgvsp: ENST00000423479.3:c.1953C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19592
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly651Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-56073650-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073650
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073649
    reference: chr 20
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1947delT
  hgvsp: ENSP00000415579.2:p.Asp649GlufsTer4
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.1947delT
  hgvsp: ENSP00000476783.1:p.Asp649GlufsTer4
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1947delT
  hgvsp: ENSP00000360239.2:p.Asp649GlufsTer4
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1947delT
  hgvsp: ENSP00000476398.1:p.Asp649GlufsTer4
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1797delT
  hgvsp: ENSP00000415329.2:p.Asp599GlufsTer4
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1947delT
  hgvsp: ENSP00000243914.3:p.Asp649GlufsTer4
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19587
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Asp649GlufsTer4
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: CA
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

20-56073657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073657
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073657
    reference: chr 20
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1941A>G
  hgvsp: ENST00000609232.1:c.1941A>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.1941A>G
  hgvsp: ENST00000608263.1:c.1941A>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.1941A>G
  hgvsp: ENST00000371196.2:c.1941A>G(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.1941A>G
  hgvsp: ENST00000243914.3:c.1941A>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.1791A>G
  hgvsp: ENST00000429804.3:c.1791A>G(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.1941A>G
  hgvsp: ENST00000423479.3:c.1941A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu647Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

20-56073659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073659
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073659
    reference: chr 20
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
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.1939G>A
  hgvsp: ENSP00000476783.1:p.Glu647Lys
  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.1939G>A
  hgvsp: ENSP00000243914.3:p.Glu647Lys
  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.1939G>A
  hgvsp: ENSP00000415579.2:p.Glu647Lys
  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.1789G>A
  hgvsp: ENSP00000415329.2:p.Glu597Lys
  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.1939G>A
  hgvsp: ENSP00000360239.2:p.Glu647Lys
  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.1939G>A
  hgvsp: ENSP00000476398.1:p.Glu647Lys
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu647Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

20-56073669-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073669
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073669
    reference: chr 20
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1929A>C
  hgvsp: ENSP00000360239.2:p.Arg643Ser
  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.1779A>C
  hgvsp: ENSP00000415329.2:p.Arg593Ser
  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.1929A>C
  hgvsp: ENSP00000415579.2:p.Arg643Ser
  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.1929A>C
  hgvsp: ENSP00000243914.3:p.Arg643Ser
  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.1929A>C
  hgvsp: ENSP00000476783.1:p.Arg643Ser
  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.1929A>C
  hgvsp: ENSP00000476398.1:p.Arg643Ser
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg643Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-56073674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073674
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073674
    reference: chr 20
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1924G>A
  hgvsp: ENSP00000360239.2:p.Ala642Thr
  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.1924G>A
  hgvsp: ENSP00000476783.1:p.Ala642Thr
  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.1924G>A
  hgvsp: ENSP00000415579.2:p.Ala642Thr
  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.1924G>A
  hgvsp: ENSP00000476398.1:p.Ala642Thr
  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.1924G>A
  hgvsp: ENSP00000243914.3:p.Ala642Thr
  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.1774G>A
  hgvsp: ENSP00000415329.2:p.Ala592Thr
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19578
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala642Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff

20-56073681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073681
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073681
    reference: chr 20
allele count: 6
allele frequency: 4.942339373970346e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1917A>G
  hgvsp: ENST00000371196.2:c.1917A>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.1767A>G
  hgvsp: ENST00000429804.3:c.1767A>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.1917A>G
  hgvsp: ENST00000609232.1:c.1917A>G(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.1917A>G
  hgvsp: ENST00000243914.3:c.1917A>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.1917A>G
  hgvsp: ENST00000608263.1:c.1917A>G(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.1917A>G
  hgvsp: ENST00000423479.3:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19577
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17190
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu639Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-56073687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073687
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073687
    reference: chr 20
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1911C>T
  hgvsp: ENST00000423479.3:c.1911C>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.1911C>T
  hgvsp: ENST00000371196.2:c.1911C>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.1911C>T
  hgvsp: ENST00000609232.1:c.1911C>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.1761C>T
  hgvsp: ENST00000429804.3:c.1761C>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.1911C>T
  hgvsp: ENST00000608263.1:c.1911C>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.1911C>T
  hgvsp: ENST00000243914.3:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys637Cys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

20-56073692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073692
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073692
    reference: chr 20
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1756G>A
  hgvsp: ENSP00000415329.2:p.Ala586Thr
  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.1906G>A
  hgvsp: ENSP00000476398.1:p.Ala636Thr
  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.1906G>A
  hgvsp: ENSP00000415579.2:p.Ala636Thr
  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.1906G>A
  hgvsp: ENSP00000243914.3:p.Ala636Thr
  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.1906G>A
  hgvsp: ENSP00000476783.1:p.Ala636Thr
  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.1906G>A
  hgvsp: ENSP00000360239.2:p.Ala636Thr
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19576
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala636Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

20-56073693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073693
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073693
    reference: chr 20
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1905C>T
  hgvsp: ENST00000371196.2:c.1905C>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.1755C>T
  hgvsp: ENST00000429804.3:c.1755C>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.1905C>T
  hgvsp: ENST00000608263.1:c.1905C>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.1905C>T
  hgvsp: ENST00000423479.3:c.1905C>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.1905C>T
  hgvsp: ENST00000243914.3:c.1905C>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.1905C>T
  hgvsp: ENST00000609232.1:c.1905C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val635Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-56073695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073695
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073695
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1903G>A
  hgvsp: ENSP00000476398.1:p.Val635Ile
  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.1903G>A
  hgvsp: ENSP00000360239.2:p.Val635Ile
  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.1903G>A
  hgvsp: ENSP00000476783.1:p.Val635Ile
  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.1903G>A
  hgvsp: ENSP00000415579.2:p.Val635Ile
  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.1903G>A
  hgvsp: ENSP00000243914.3:p.Val635Ile
  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.1753G>A
  hgvsp: ENSP00000415329.2:p.Val585Ile
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val635Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-56073697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073697
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073697
    reference: chr 20
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
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.1751C>T
  hgvsp: ENSP00000415329.2:p.Pro584Leu
  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.1901C>T
  hgvsp: ENSP00000476783.1:p.Pro634Leu
  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.1901C>T
  hgvsp: ENSP00000243914.3:p.Pro634Leu
  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.1901C>T
  hgvsp: ENSP00000360239.2:p.Pro634Leu
  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.1901C>T
  hgvsp: ENSP00000415579.2:p.Pro634Leu
  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.1901C>T
  hgvsp: ENSP00000476398.1:p.Pro634Leu
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro634Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-56073700-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073700
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073700
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1748T>G
  hgvsp: ENSP00000415329.2:p.Phe583Cys
  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.1898T>G
  hgvsp: ENSP00000360239.2:p.Phe633Cys
  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.1898T>G
  hgvsp: ENSP00000415579.2:p.Phe633Cys
  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.1898T>G
  hgvsp: ENSP00000243914.3:p.Phe633Cys
  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.1898T>G
  hgvsp: ENSP00000476783.1:p.Phe633Cys
  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.1898T>G
  hgvsp: ENSP00000476398.1:p.Phe633Cys
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe633Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/20-56073707-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073707
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073707
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.1891G>T
  hgvsp: ENSP00000476783.1:p.Glu631Ter
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1891G>T
  hgvsp: ENSP00000476398.1:p.Glu631Ter
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1891G>T
  hgvsp: ENSP00000415579.2:p.Glu631Ter
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1891G>T
  hgvsp: ENSP00000243914.3:p.Glu631Ter
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1741G>T
  hgvsp: ENSP00000415329.2:p.Glu581Ter
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1891G>T
  hgvsp: ENSP00000360239.2:p.Glu631Ter
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu631Ter
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-56073709-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073709
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073709
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1739G>C
  hgvsp: ENSP00000415329.2:p.Gly580Ala
  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.1889G>C
  hgvsp: ENSP00000360239.2:p.Gly630Ala
  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.1889G>C
  hgvsp: ENSP00000243914.3:p.Gly630Ala
  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.1889G>C
  hgvsp: ENSP00000476783.1:p.Gly630Ala
  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.1889G>C
  hgvsp: ENSP00000415579.2:p.Gly630Ala
  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.1889G>C
  hgvsp: ENSP00000476398.1:p.Gly630Ala
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly630Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

20-56073711-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073711
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073711
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1887A>C
  hgvsp: ENST00000371196.2:c.1887A>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.1737A>C
  hgvsp: ENST00000429804.3:c.1737A>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.1887A>C
  hgvsp: ENST00000608263.1:c.1887A>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.1887A>C
  hgvsp: ENST00000423479.3:c.1887A>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.1887A>C
  hgvsp: ENST00000243914.3:c.1887A>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.1887A>C
  hgvsp: ENST00000609232.1:c.1887A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro629Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

20-56073716-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073716
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073716
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1732T>C
  hgvsp: ENSP00000415329.2:p.Phe578Leu
  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.1882T>C
  hgvsp: ENSP00000415579.2:p.Phe628Leu
  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.1882T>C
  hgvsp: ENSP00000243914.3:p.Phe628Leu
  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.1882T>C
  hgvsp: ENSP00000476398.1:p.Phe628Leu
  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.1882T>C
  hgvsp: ENSP00000360239.2:p.Phe628Leu
  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.1882T>C
  hgvsp: ENSP00000476783.1:p.Phe628Leu
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe628Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

20-56073719-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073719
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073719
    reference: chr 20
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1729C>G
  hgvsp: ENSP00000415329.2:p.Gln577Glu
  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.1879C>G
  hgvsp: ENSP00000243914.3:p.Gln627Glu
  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.1879C>G
  hgvsp: ENSP00000360239.2:p.Gln627Glu
  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.1879C>G
  hgvsp: ENSP00000476783.1:p.Gln627Glu
  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.1879C>G
  hgvsp: ENSP00000415579.2:p.Gln627Glu
  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.1879C>G
  hgvsp: ENSP00000476398.1:p.Gln627Glu
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln627Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

20-56073720-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073720
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073720
    reference: chr 20
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1878A>G
  hgvsp: ENST00000609232.1:c.1878A>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.1728A>G
  hgvsp: ENST00000429804.3:c.1728A>G(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.1878A>G
  hgvsp: ENST00000423479.3:c.1878A>G(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.1878A>G
  hgvsp: ENST00000243914.3:c.1878A>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.1878A>G
  hgvsp: ENST00000608263.1:c.1878A>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.1878A>G
  hgvsp: ENST00000371196.2:c.1878A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19568
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu626Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-56073729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073729
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073729
    reference: chr 20
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1869G>A
  hgvsp: ENST00000371196.2:c.1869G>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.1719G>A
  hgvsp: ENST00000429804.3:c.1719G>A(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.1869G>A
  hgvsp: ENST00000243914.3:c.1869G>A(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.1869G>A
  hgvsp: ENST00000423479.3:c.1869G>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.1869G>A
  hgvsp: ENST00000608263.1:c.1869G>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.1869G>A
  hgvsp: ENST00000609232.1:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr623Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

20-56073730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073730
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073730
    reference: chr 20
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
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.1868C>T
  hgvsp: ENSP00000476398.1:p.Thr623Met
  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.1718C>T
  hgvsp: ENSP00000415329.2:p.Thr573Met
  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.1868C>T
  hgvsp: ENSP00000243914.3:p.Thr623Met
  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.1868C>T
  hgvsp: ENSP00000476783.1:p.Thr623Met
  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.1868C>T
  hgvsp: ENSP00000415579.2:p.Thr623Met
  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.1868C>T
  hgvsp: ENSP00000360239.2:p.Thr623Met
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr623Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

20-56073736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073736
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073736
    reference: chr 20
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1862C>T
  hgvsp: ENSP00000415579.2:p.Ser621Phe
  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.1712C>T
  hgvsp: ENSP00000415329.2:p.Ser571Phe
  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.1862C>T
  hgvsp: ENSP00000476783.1:p.Ser621Phe
  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.1862C>T
  hgvsp: ENSP00000360239.2:p.Ser621Phe
  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.1862C>T
  hgvsp: ENSP00000243914.3:p.Ser621Phe
  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.1862C>T
  hgvsp: ENSP00000476398.1:p.Ser621Phe
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser621Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

20-56073739-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073739
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073739
    reference: chr 20
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1859C>G
  hgvsp: ENSP00000360239.2:p.Ala620Gly
  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.1859C>G
  hgvsp: ENSP00000476783.1:p.Ala620Gly
  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.1709C>G
  hgvsp: ENSP00000415329.2:p.Ala570Gly
  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.1859C>G
  hgvsp: ENSP00000415579.2:p.Ala620Gly
  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.1859C>G
  hgvsp: ENSP00000243914.3:p.Ala620Gly
  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.1859C>G
  hgvsp: ENSP00000476398.1:p.Ala620Gly
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19561
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala620Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

20-56073740-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073740
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073740
    reference: chr 20
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1858G>C
  hgvsp: ENSP00000360239.2:p.Ala620Pro
  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.1858G>C
  hgvsp: ENSP00000415579.2:p.Ala620Pro
  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.1858G>C
  hgvsp: ENSP00000476783.1:p.Ala620Pro
  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.1858G>C
  hgvsp: ENSP00000476398.1:p.Ala620Pro
  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.1708G>C
  hgvsp: ENSP00000415329.2:p.Ala570Pro
  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.1858G>C
  hgvsp: ENSP00000243914.3:p.Ala620Pro
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19560
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala620Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

20-56073741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073741
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073741
    reference: chr 20
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1857G>A
  hgvsp: ENST00000243914.3:c.1857G>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.1857G>A
  hgvsp: ENST00000609232.1:c.1857G>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.1857G>A
  hgvsp: ENST00000608263.1:c.1857G>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.1857G>A
  hgvsp: ENST00000371196.2:c.1857G>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.1707G>A
  hgvsp: ENST00000429804.3:c.1707G>A(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.1857G>A
  hgvsp: ENST00000423479.3:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu619Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

20-56073742-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073742
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073742
    reference: chr 20
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
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.1856A>C
  hgvsp: ENSP00000415579.2:p.Glu619Ala
  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.1706A>C
  hgvsp: ENSP00000415329.2:p.Glu569Ala
  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.1856A>C
  hgvsp: ENSP00000476783.1:p.Glu619Ala
  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.1856A>C
  hgvsp: ENSP00000243914.3:p.Glu619Ala
  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.1856A>C
  hgvsp: ENSP00000360239.2:p.Glu619Ala
  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.1856A>C
  hgvsp: ENSP00000476398.1:p.Glu619Ala
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu619Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

20-56073750-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073750
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073750
    reference: chr 20
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1848T>C
  hgvsp: ENST00000609232.1:c.1848T>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.1848T>C
  hgvsp: ENST00000423479.3:c.1848T>C(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.1848T>C
  hgvsp: ENST00000371196.2:c.1848T>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.1848T>C
  hgvsp: ENST00000243914.3:c.1848T>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.1698T>C
  hgvsp: ENST00000429804.3:c.1698T>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.1848T>C
  hgvsp: ENST00000608263.1:c.1848T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala616Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-56073756-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073756
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073756
    reference: chr 20
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
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.1692A>G
  hgvsp: ENST00000429804.3:c.1692A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
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.1842A>G
  hgvsp: ENST00000423479.3:c.1842A>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: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1842A>G
  hgvsp: ENST00000609232.1:c.1842A>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.1842A>G
  hgvsp: ENST00000608263.1:c.1842A>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: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1842A>G
  hgvsp: ENST00000243914.3:c.1842A>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: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1842A>G
  hgvsp: ENST00000371196.2:c.1842A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1842A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

20-56073763-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073763
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073762
    reference: chr 20
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
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.1841-7delT
  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.1841-7delT
  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.1841-7delT
  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.1841-7delT
  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.1841-7delT
  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.1691-7delT
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6325
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1841-7delT
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: GA
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/20-56073766-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073766
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073766
    reference: chr 20
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
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.1841-9T>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.1841-9T>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.1841-9T>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.1841-9T>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.1841-9T>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.1691-9T>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

20-56073777-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073777
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073777
    reference: chr 20
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
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.1841-20A>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.1691-20A>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.1841-20A>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.1841-20A>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.1841-20A>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.1841-20A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-56073781-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073781
    reference: chr 20
allele count: 22
allele frequency: 1.822519716349659e-4
allele num: 120712
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.1841-24G>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.1841-24G>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.1841-24G>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.1691-24G>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.1841-24G>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.1841-24G>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
  all individuals: 2097
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
  all individuals: 4610
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genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

20-56073785-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073785
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073785
    reference: chr 20
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1841-28A>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.1841-28A>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.1841-28A>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.1841-28A>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.1841-28A>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.1691-28A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6021
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1352
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

20-56073796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073796
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073796
    reference: chr 20
allele count: 4
allele frequency: 3.322148765821733e-5
allele num: 120404
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.1841-39C>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.1841-39C>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.1841-39C>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.1841-39C>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.1691-39C>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.1841-39C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-56073803-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073803
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073803
    reference: chr 20
allele count: 2
allele frequency: 1.665112561609165e-5
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1841-46T>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.1841-46T>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.1691-46T>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.1841-46T>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.1841-46T>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.1841-46T>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19529
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-56073805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56073805
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56073805
    reference: chr 20
allele count: 2
allele frequency: 1.668696914579405e-5
allele num: 119854
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.1691-48A>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.1841-48A>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.1841-48A>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.1841-48A>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.1841-48A>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.1841-48A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

20-56075307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56075307
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56075307
    reference: chr 20
allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1281C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.*2C>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.1841-1550C>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.1841-1550C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.*2C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*321C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.*2C>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.1841-1550C>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.1841-1550C>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.1841-1550C>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.1691-1550C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

20-56075371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56075371
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56075371
    reference: chr 20
allele count: 77
allele frequency: 5.895865237366003e-2
allele num: 1306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1841-1614G>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.1841-1614G>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.1691-1614G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*257G>A
  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.1150G>A
  hgvsp: ENSP00000437999.1:p.Ala384Thr
  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.1841-1614G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1217G>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.1936G>A
  hgvsp: ENSP00000477488.1:p.Ala646Thr
  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.1321G>A
  hgvsp: ENSP00000392034.3:p.Ala441Thr
  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.1841-1614G>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.1841-1614G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala384Thr
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/20-56075390-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56075390
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56075390
    reference: chr 20
allele count: 2
allele frequency: 2.375296912114014e-3
allele num: 842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.1917T>G
  hgvsp: ENSP00000477488.1:p.Ile639Met
  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.1841-1633T>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*238T>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.1841-1633T>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.1691-1633T>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.1841-1633T>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.1302T>G
  hgvsp: ENSP00000392034.3:p.Ile434Met
  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.1841-1633T>G
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1198T>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.1841-1633T>G
  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.1131T>G
  hgvsp: ENSP00000437999.1:p.Ile377Met
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile377Met
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

20-56075402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56075402
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56075402
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1841-1645C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1186C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*226C>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.1841-1645C>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.1691-1645C>T
  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.1290C>T
  hgvsp: ENST00000433949.3:c.1290C>T(p.%3D)
  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.1841-1645C>T
  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.1905C>T
  hgvsp: ENST00000608440.1:c.1905C>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.1119C>T
  hgvsp: ENST00000502686.2:c.1119C>T(p.%3D)
  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.1841-1645C>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.1841-1645C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser373Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

20-56075449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56075449
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56075449
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 48
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.1691-1692C>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.1243C>T
  hgvsp: ENSP00000392034.3:p.Arg415Cys
  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.1841-1692C>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.1841-1692C>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.1858C>T
  hgvsp: ENSP00000477488.1:p.Arg620Cys
  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.1841-1692C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1139C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*179C>T
  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.1072C>T
  hgvsp: ENSP00000437999.1:p.Arg358Cys
  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.1841-1692C>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.1841-1692C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg358Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

20-56078447-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078447
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078448
    reference: chr 20
allele count: 6
allele frequency: 4.982230046168665e-5
allele num: 120428
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1840+44dupT
  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.1054+44dupT
  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.1690+44dupT
  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.*1121+44dupT
  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.1840+44dupT
  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.1840+44dupT
  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.1840+44dupT
  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.1225+44dupT
  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.*161+44dupT
  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.1840+44dupT
  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.1840+44dupT
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

20-56078461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078461
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078461
    reference: chr 20
allele count: 52
allele frequency: 4.313634402893453e-4
allele num: 120548
alternate allele: T
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.*1121+31G>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.1840+31G>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.1225+31G>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.1840+31G>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.1054+31G>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.1690+31G>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.*161+31G>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.1840+31G>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.1840+31G>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.1840+31G>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.1840+31G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39494
  bin: 9.75e1
  variant carriers: 52
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

20-56078462-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078462
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078462
    reference: chr 20
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
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.1840+30C>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.1840+30C>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.1840+30C>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.1225+30C>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.1840+30C>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.1054+30C>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.1840+30C>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.*161+30C>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.1690+30C>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.*1121+30C>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.1840+30C>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

20-56078473-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078473
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078473
    reference: chr 20
allele count: 2
allele frequency: 1.652592090694254e-5
allele num: 121022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1840+19T>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.1225+19T>C
  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.*161+19T>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.1840+19T>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.1840+19T>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.1690+19T>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.1054+19T>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.1840+19T>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.*1121+19T>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.1840+19T>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.1840+19T>C
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-56078475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078475
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078475
    reference: chr 20
allele count: 2
allele frequency: 1.652674026574998e-5
allele num: 121016
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.1840+17G>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.*161+17G>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.1690+17G>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.1840+17G>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.*1121+17G>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.1840+17G>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.1225+17G>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.1054+17G>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.1840+17G>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.1840+17G>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.1840+17G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-56078478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078478
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078478
    reference: chr 20
allele count: 56
allele frequency: 4.625041295011562e-4
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1840+14G>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.*161+14G>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.1840+14G>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.1840+14G>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.1690+14G>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.1840+14G>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.1840+14G>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.1225+14G>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.1054+14G>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.*1121+14G>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.1840+14G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

20-56078479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078479
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078479
    reference: chr 20
allele count: 4
allele frequency: 3.302618976848641e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1840+13C>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.1840+13C>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.1840+13C>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.*1121+13C>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.1840+13C>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.1840+13C>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.1840+13C>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.1690+13C>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.1225+13C>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.1054+13C>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.*161+13C>T
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

20-56078486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078486
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078486
    reference: chr 20
allele count: 185
allele frequency: 1.525571883297874e-3
allele num: 121266
alternate allele: T
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.1690+6G>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.*1121+6G>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.1225+6G>A
  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.1054+6G>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.1840+6G>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.1840+6G>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.1840+6G>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.1840+6G>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.1840+6G>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.1840+6G>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.*161+6G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 9.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: c.1840+6G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

20-56078498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078498
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078498
    reference: chr 20
allele count: 16
allele frequency: 1.318326384654681e-4
allele num: 121366
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.1219G>A
  hgvsp: ENSP00000392034.3:p.Gly407Arg
  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.1834G>A
  hgvsp: ENSP00000360239.2:p.Gly612Arg
  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.1834G>A
  hgvsp: ENSP00000415579.2:p.Gly612Arg
  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.1834G>A
  hgvsp: ENSP00000476783.1:p.Gly612Arg
  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.1048G>A
  hgvsp: ENSP00000437999.1:p.Gly350Arg
  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.1834G>A
  hgvsp: ENSP00000243914.3:p.Gly612Arg
  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.1684G>A
  hgvsp: ENSP00000415329.2:p.Gly562Arg
  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.1834G>A
  hgvsp: ENSP00000476398.1:p.Gly612Arg
  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.1834G>A
  hgvsp: ENSP00000477488.1:p.Gly612Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1115G>A
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*155G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly612Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-56078499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078499
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078499
    reference: chr 20
allele count: 217
allele frequency: 1.788068556361239e-3
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1833C>T
  hgvsp: ENST00000423479.3:c.1833C>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.1833C>T
  hgvsp: ENST00000608263.1:c.1833C>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.1683C>T
  hgvsp: ENST00000429804.3:c.1683C>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.1833C>T
  hgvsp: ENST00000243914.3:c.1833C>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.1218C>T
  hgvsp: ENST00000433949.3:c.1218C>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.1833C>T
  hgvsp: ENST00000608440.1:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1114C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*154C>T
  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.1047C>T
  hgvsp: ENST00000502686.2:c.1047C>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.1833C>T
  hgvsp: ENST00000609232.1:c.1833C>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.1833C>T
  hgvsp: ENST00000371196.2:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 9.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Asn611Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

20-56078502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078502
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078502
    reference: chr 20
allele count: 7
allele frequency: 5.767392808885081e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1830G>A
  hgvsp: ENST00000609232.1:c.1830G>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.1044G>A
  hgvsp: ENST00000502686.2:c.1044G>A(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.1830G>A
  hgvsp: ENST00000423479.3:c.1830G>A(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.1215G>A
  hgvsp: ENST00000433949.3:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1111G>A
  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.1830G>A
  hgvsp: ENST00000608263.1:c.1830G>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.1680G>A
  hgvsp: ENST00000429804.3:c.1680G>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.1830G>A
  hgvsp: ENST00000608440.1:c.1830G>A(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.1830G>A
  hgvsp: ENST00000243914.3:c.1830G>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.1830G>A
  hgvsp: ENST00000371196.2:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*151G>A
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala610Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-56078504-C-CGGCTTCCTTCCATCCCTTCGCAGCTTCCTTCTGACCCTTTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078504
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078546
    reference: chr 20
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: CGGCTTCCTTCCATCCCTTCGCAGCTTCCTTCTGACCCTTTGT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsp: ENSP00000360239.2:p.Thr596_Ala609dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsp: ENSP00000243914.3:p.Thr596_Ala609dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsp: ENSP00000476783.1:p.Thr596_Ala609dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsp: ENSP00000415579.2:p.Thr596_Ala609dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsp: ENSP00000415329.2:p.Thr546_Ala559dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsp: ENSP00000477488.1:p.Thr596_Ala609dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsp: ENSP00000437999.1:p.Thr334_Ala347dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsp: ENSP00000476398.1:p.Thr596_Ala609dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsp: ENSP00000392034.3:p.Thr391_Ala404dup
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr596_Ala609dup
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

20-56078504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078504
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078504
    reference: chr 20
allele count: 199
allele frequency: 1.639452307590911e-3
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1828G>A
  hgvsp: ENSP00000415579.2:p.Ala610Thr
  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.1828G>A
  hgvsp: ENSP00000477488.1:p.Ala610Thr
  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.1213G>A
  hgvsp: ENSP00000392034.3:p.Ala405Thr
  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.1678G>A
  hgvsp: ENSP00000415329.2:p.Ala560Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1109G>A
  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.1042G>A
  hgvsp: ENSP00000437999.1:p.Ala348Thr
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*149G>A
  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.1828G>A
  hgvsp: ENSP00000360239.2:p.Ala610Thr
  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.1828G>A
  hgvsp: ENSP00000476398.1:p.Ala610Thr
  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.1828G>A
  hgvsp: ENSP00000476783.1:p.Ala610Thr
  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.1828G>A
  hgvsp: ENSP00000243914.3:p.Ala610Thr
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 9.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala610Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

20-56078505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078505
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078505
    reference: chr 20
allele count: 6
allele frequency: 4.94274651948266e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1827C>T
  hgvsp: ENST00000423479.3:c.1827C>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.1827C>T
  hgvsp: ENST00000371196.2:c.1827C>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.1827C>T
  hgvsp: ENST00000608440.1:c.1827C>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.1677C>T
  hgvsp: ENST00000429804.3:c.1677C>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.1212C>T
  hgvsp: ENST00000433949.3:c.1212C>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.1041C>T
  hgvsp: ENST00000502686.2:c.1041C>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.1827C>T
  hgvsp: ENST00000609232.1:c.1827C>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.1827C>T
  hgvsp: ENST00000243914.3:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1108C>T
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*148C>T
  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.1827C>T
  hgvsp: ENST00000608263.1:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala609Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

20-56078523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078523
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078523
    reference: chr 20
allele count: 7
allele frequency: 5.765967611736215e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1090G>A
  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.1659G>A
  hgvsp: ENST00000429804.3:c.1659G>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.1809G>A
  hgvsp: ENST00000609232.1:c.1809G>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.1023G>A
  hgvsp: ENST00000502686.2:c.1023G>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.1809G>A
  hgvsp: ENST00000371196.2:c.1809G>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.1809G>A
  hgvsp: ENST00000608263.1:c.1809G>A(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.1194G>A
  hgvsp: ENST00000433949.3:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*130G>A
  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.1809G>A
  hgvsp: ENST00000243914.3:c.1809G>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.1809G>A
  hgvsp: ENST00000608440.1:c.1809G>A(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.1809G>A
  hgvsp: ENST00000423479.3:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala603Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-56078524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078524
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078524
    reference: chr 20
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
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.1658C>T
  hgvsp: ENSP00000415329.2:p.Ala553Val
  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.1808C>T
  hgvsp: ENSP00000476783.1:p.Ala603Val
  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.1808C>T
  hgvsp: ENSP00000476398.1:p.Ala603Val
  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.1808C>T
  hgvsp: ENSP00000243914.3:p.Ala603Val
  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.1808C>T
  hgvsp: ENSP00000360239.2:p.Ala603Val
  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.1193C>T
  hgvsp: ENSP00000392034.3:p.Ala398Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1089C>T
  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.1808C>T
  hgvsp: ENSP00000415579.2:p.Ala603Val
  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.1808C>T
  hgvsp: ENSP00000477488.1:p.Ala603Val
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*129C>T
  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.1022C>T
  hgvsp: ENSP00000437999.1:p.Ala341Val
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala603Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

20-56078536-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078536
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078536
    reference: chr 20
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
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.1796A>G
  hgvsp: ENSP00000415579.2:p.Gln599Arg
  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.1796A>G
  hgvsp: ENSP00000477488.1:p.Gln599Arg
  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.1181A>G
  hgvsp: ENSP00000392034.3:p.Gln394Arg
  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.1646A>G
  hgvsp: ENSP00000415329.2:p.Gln549Arg
  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.1796A>G
  hgvsp: ENSP00000243914.3:p.Gln599Arg
  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.1796A>G
  hgvsp: ENSP00000360239.2:p.Gln599Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1077A>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.1796A>G
  hgvsp: ENSP00000476783.1:p.Gln599Arg
  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.1796A>G
  hgvsp: ENSP00000476398.1:p.Gln599Arg
  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.1010A>G
  hgvsp: ENSP00000437999.1:p.Gln337Arg
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*117A>G
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln599Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-56078540-C-CCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56078540
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 56078543
    reference: chr 20
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: CCTT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000413713
  ensembl transcript: ENST00000422109
  gene symbol: CTCFL
  hgvsc: ENST00000422109.2:c.*110_*112dupAAG
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000477488
  ensembl transcript: ENST00000608440
  gene symbol: CTCFL
  hgvsc: ENST00000608440.1:c.1789_1791dupAAG
  hgvsp: ENSP00000477488.1:p.Lys597dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476398
  ensembl transcript: ENST00000609232
  gene symbol: CTCFL
  hgvsc: ENST00000609232.1:c.1789_1791dupAAG
  hgvsp: ENSP00000476398.1:p.Lys597dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000403369
  ensembl transcript: ENST00000426658
  gene symbol: CTCFL
  hgvsc: ENST00000426658.2:c.*1070_*1072dupAAG
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000392034
  ensembl transcript: ENST00000433949
  gene symbol: CTCFL
  hgvsc: ENST00000433949.3:c.1174_1176dupAAG
  hgvsp: ENSP00000392034.3:p.Lys392dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000243914
  ensembl transcript: ENST00000243914
  gene symbol: CTCFL
  hgvsc: ENST00000243914.3:c.1789_1791dupAAG
  hgvsp: ENSP00000243914.3:p.Lys597dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415579
  ensembl transcript: ENST00000423479
  gene symbol: CTCFL
  hgvsc: ENST00000423479.3:c.1789_1791dupAAG
  hgvsp: ENSP00000415579.2:p.Lys597dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000476783
  ensembl transcript: ENST00000608263
  gene symbol: CTCFL
  hgvsc: ENST00000608263.1:c.1789_1791dupAAG
  hgvsp: ENSP00000476783.1:p.Lys597dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000415329
  ensembl transcript: ENST00000429804
  gene symbol: CTCFL
  hgvsc: ENST00000429804.3:c.1639_1641dupAAG
  hgvsp: ENSP00000415329.2:p.Lys547dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000437999
  ensembl transcript: ENST00000502686
  gene symbol: CTCFL
  hgvsc: ENST00000502686.2:c.1003_1005dupAAG
  hgvsp: ENSP00000437999.1:p.Lys335dup
  variant of: http://identifiers.org/hgnc/16234
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000124092
  ensembl protein: ENSP00000360239
  ensembl transcript: ENST00000371196
  gene symbol: CTCFL
  hgvsc: ENST00000371196.2:c.1789_1791dupAAG
  hgvsp: ENSP00000360239.2:p.Lys597dup
  variant of: http://identifiers.org/hgnc/16234
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys597dup
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
reference allele: C

GenotypeQuality
all individuals: 4615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 2.406225e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

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

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20078
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523249502442555e-5
allele num: 66324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.313e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.407583e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

GenotypeQuality
all individuals: 4280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20185
bin: 9.75e1
variant carriers: 897

GenotypeQuality
all individuals: 3615
bin: 9.25e1
variant carriers: 0

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: 10
allele frequency: 1.505661286437003e-4
allele num: 66416
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: 877
allele frequency: 8.431070947894635e-2
allele num: 10402
num of homozygotes: 36

Latino
type: Population
allele count: 42
allele frequency: 3.628196268140981e-3
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.264862130027827e-4
allele num: 15812
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.605e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

DP
type: SiteQuality
SIO_000300: 2.458028e6

GenotypeQuality
all individuals: 4628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15813
bin: 6.25e1
variant carriers: 0

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: 66420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 15848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 2.424826e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 6286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
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: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 1.204e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
type: SiteQuality
SIO_000300: 2.424826e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6317
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
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: 4
allele frequency: 2.509410288582183e-4
allele num: 15940
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.426297e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

FS
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 369
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
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: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.86799501867995e-4
allele num: 16060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.561e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 2.428364e6

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.201e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
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: 7
allele frequency: 4.266211604095563e-4
allele num: 16408
num of homozygotes: 1

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: 10406
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: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

FS
type: SiteQuality
SIO_000300: 5.287e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.88e-2

DP
type: SiteQuality
SIO_000300: 2.436391e6

QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.35e-1

GenotypeQuality
all individuals: 3637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 2
allele frequency: 1.218026796589525e-4
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 2.436513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

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

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4296
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4635
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
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: 66692
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 2.438677e6

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2092
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4291
bin: 8.25e1
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: 493
allele frequency: 4.738562091503268e-2
allele num: 10404
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.996041741633681e-5
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.763862497840732e-3
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.234e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 2.447482e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

FS
type: SiteQuality
SIO_000300: 1.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

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

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

GenotypeQuality
all individuals: 17140
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19592
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 908
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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.391791e6

FS
type: SiteQuality
SIO_000300: 1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4673
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496476655971693e-5
allele num: 66698
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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.391791e6

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.345e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

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

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.457e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 5.96e0

DP
type: SiteQuality
SIO_000300: 2.391563e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

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

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

GenotypeQuality
all individuals: 19585
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 17168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
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: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 908
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.391475e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
SIO_000300: 1.495e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 17168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6440
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4675
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2716
bin: 7.25e1
variant carriers: 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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

DP
type: SiteQuality
SIO_000300: 2.39133e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 3.749e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19582
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
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

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: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 2.391476e6

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 1.765e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

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

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

GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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

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: 66724
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.391149e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.232e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 3660
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2714
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
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: 4
allele frequency: 4.622140050843541e-4
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: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

QD
type: SiteQuality
SIO_000300: 1.525e1

DP
type: SiteQuality
SIO_000300: 2.391242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
all individuals: 6437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19579
bin: 9.75e1
variant carriers: 4

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

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

GenotypeQuality
all individuals: 17182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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African
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Latino
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VQSLOD
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QD
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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European (Finnish)
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African
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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VQSLOD
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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Latino
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Other
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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DP
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BaseQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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African
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Other
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ClippingRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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allele num: 8654
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African
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Other
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.382326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

BaseQRankSum
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SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.76e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.631e-1

MQRankSum
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SIO_000300: -9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
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SIO_000300: -9.15e-1

FS
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 10364
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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DP
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SIO_000300: 2.360971e6

BaseQRankSum
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SIO_000300: -4.285e0

FS
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QD
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22
allele frequency: 2.551020408163265e-3
allele num: 8624
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.354194e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.007e0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 3.902e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 66448
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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South Asian
type: Population
allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
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: 11560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.602e1

DP
type: SiteQuality
SIO_000300: 2.347697e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.1e-3

MQRankSum
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SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.030271965265633e-5
allele num: 66332
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10326
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16090
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
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SIO_000300: 4.1e-3

FS
type: SiteQuality
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 2.310003e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66230
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.339181286549708e-4
allele num: 8550
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
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Other
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allele num: 902
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South Asian
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allele frequency: 6.297229219143577e-5
allele num: 15880
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.511898642315019e-5
allele num: 66142
num of homozygotes: 0

Latino
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 6
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African
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South Asian
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allele frequency: 1.879699248120301e-3
allele num: 532
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European (Non-Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
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MQ
type: SiteQuality
SIO_000300: 5.764e1

ReadPosRankSum
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DP
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 7.763975155279502e-2
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South Asian
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allele frequency: 5.957943925233645e-2
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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Latino
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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African
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -9.35e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Latino
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East Asian
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allele frequency: 6.938020351526364e-4
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Other
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 1.360749924402782e-3
allele num: 6614
num of homozygotes: 0

Latino
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South Asian
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East Asian
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Other
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African
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European (Non-Finnish)
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allele frequency: 6.318069679282749e-4
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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DP
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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MQ
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 4.75e1
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GenotypeQuality
all individuals: 2338
bin: 7.75e1
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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00390507659958e-5
allele num: 66580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
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FS
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SIO_000300: 4.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.995532e6

QD
type: SiteQuality
SIO_000300: 1.512e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.715e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.226091221186856e-4
allele num: 16312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

East Asian
type: Population
allele count: 51
allele frequency: 5.894590846047157e-3
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 6.6e-1

DP
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SIO_000300: 3.000833e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.203e0

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.448280083241523e-4
allele num: 16338
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
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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: 66618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
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SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
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SIO_000300: 3.24e0

InbreedingCoeff
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SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
type: SiteQuality
SIO_000300: 2.99744e6

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2460
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GenotypeQuality
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GenotypeQuality
all individuals: 39489
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variant carriers: 185

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 7739
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: 161
allele frequency: 2.415241524152415e-3
allele num: 66660
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.381931248920366e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.765904285988853e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 6.12e-1

ReadPosRankSum
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SIO_000300: 6.929999999999999e-1

BaseQRankSum
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MQRankSum
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SIO_000300: 2.99e-1

QD
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SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.012803e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeDepth
all individuals: 448
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39422
bin: 9.75e1
variant carriers: 16

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.502195516524151e-3
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.955e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.001809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 217

GenotypeQuality
all individuals: 2498
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 164
allele frequency: 2.458623171024227e-3
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 34
allele frequency: 2.060606060606061e-3
allele num: 16500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.019016e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2958
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GenotypeQuality
all individuals: 1691
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
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: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
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: 908
num of homozygotes: 0

FS
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VQSLOD
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

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

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

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

GenotypeQuality
all individuals: 2956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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: 66716
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

DP
type: SiteQuality
SIO_000300: 3.018877e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeDepth
all individuals: 3867
bin: 6.25e1
variant carriers: 4

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39426
bin: 9.75e1
variant carriers: 199

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

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

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

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2509
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2350
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.019245758138977e-3
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 7.591773976551989e-3
allele num: 10406
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: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 1.878104931540046e-3
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

DP
type: SiteQuality
SIO_000300: 3.018877e6

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeDepth
all individuals: 6630
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2362
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8012
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1690
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39335
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 1307
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.998529e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeDepth
all individuals: 2121
bin: 9.75e1
variant carriers: 7

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

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

GenotypeQuality
all individuals: 2365
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1310
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39334
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
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: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

DP
type: SiteQuality
SIO_000300: 2.999144e6

GenotypeDepth
all individuals: 3870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39333
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2472
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2526
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1690
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8041
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
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: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.998531e6

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeDepth
all individuals: 7516
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8040
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 39331
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 7.25e1
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: 2964
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 2.998576e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeDepth
all individuals: 3870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 1310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 39329
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8045
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 908
num of homozygotes: 0