17-72832530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72832530
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 72832530
    reference: chr 17
allele count: 4
allele frequency: 3.314386092835955e-5
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000334849
  ensembl transcript: ENST00000335464
  gene symbol: TMEM104
  hgvsc: ENST00000335464.5:c.1195G>A
  hgvsp: ENSP00000334849.5:p.Val399Met
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000461922
  ensembl transcript: ENST00000582330
  gene symbol: TMEM104
  hgvsc: ENST00000582330.1:c.1195G>A
  hgvsp: ENSP00000461922.1:p.Val399Met
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000463205
  ensembl transcript: ENST00000582773
  gene symbol: TMEM104
  hgvsc: ENST00000582773.1:c.731-2496G>A
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000397676
  ensembl transcript: ENST00000417024
  gene symbol: TMEM104
  hgvsc: ENST00000417024.2:c.770-2496G>A
  variant of: http://identifiers.org/hgnc/25984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Val399Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-72832542-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72832542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 72832542
    reference: chr 17
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000397676
  ensembl transcript: ENST00000417024
  gene symbol: TMEM104
  hgvsc: ENST00000417024.2:c.770-2484A>G
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000334849
  ensembl transcript: ENST00000335464
  gene symbol: TMEM104
  hgvsc: ENST00000335464.5:c.1207A>G
  hgvsp: ENSP00000334849.5:p.Ile403Val
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000463205
  ensembl transcript: ENST00000582773
  gene symbol: TMEM104
  hgvsc: ENST00000582773.1:c.731-2484A>G
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000461922
  ensembl transcript: ENST00000582330
  gene symbol: TMEM104
  hgvsc: ENST00000582330.1:c.1207A>G
  hgvsp: ENSP00000461922.1:p.Ile403Val
  variant of: http://identifiers.org/hgnc/25984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1211
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29751
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile403Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-72832555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72832555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 72832555
    reference: chr 17
allele count: 102
allele frequency: 8.473168300382123e-4
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000461922
  ensembl transcript: ENST00000582330
  gene symbol: TMEM104
  hgvsc: ENST00000582330.1:c.1220C>T
  hgvsp: ENSP00000461922.1:p.Pro407Leu
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000334849
  ensembl transcript: ENST00000335464
  gene symbol: TMEM104
  hgvsc: ENST00000335464.5:c.1220C>T
  hgvsp: ENSP00000334849.5:p.Pro407Leu
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000463205
  ensembl transcript: ENST00000582773
  gene symbol: TMEM104
  hgvsc: ENST00000582773.1:c.731-2471C>T
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000397676
  ensembl transcript: ENST00000417024
  gene symbol: TMEM104
  hgvsc: ENST00000417024.2:c.770-2471C>T
  variant of: http://identifiers.org/hgnc/25984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro407Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-72832556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72832556
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 72832556
    reference: chr 17
allele count: 17
allele frequency: 1.412499792279442e-4
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000397676
  ensembl transcript: ENST00000417024
  gene symbol: TMEM104
  hgvsc: ENST00000417024.2:c.770-2470G>A
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000461922
  ensembl transcript: ENST00000582330
  gene symbol: TMEM104
  hgvsc: ENST00000582330.1:c.1221G>A
  hgvsp: ENST00000582330.1:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000463205
  ensembl transcript: ENST00000582773
  gene symbol: TMEM104
  hgvsc: ENST00000582773.1:c.731-2470G>A
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000334849
  ensembl transcript: ENST00000335464
  gene symbol: TMEM104
  hgvsc: ENST00000335464.5:c.1221G>A
  hgvsp: ENST00000335464.5:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro407Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-72832570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72832570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 72832570
    reference: chr 17
allele count: 10
allele frequency: 8.318775476249896e-5
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000461922
  ensembl transcript: ENST00000582330
  gene symbol: TMEM104
  hgvsc: ENST00000582330.1:c.1235C>T
  hgvsp: ENSP00000461922.1:p.Ala412Val
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000334849
  ensembl transcript: ENST00000335464
  gene symbol: TMEM104
  hgvsc: ENST00000335464.5:c.1235C>T
  hgvsp: ENSP00000334849.5:p.Ala412Val
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000397676
  ensembl transcript: ENST00000417024
  gene symbol: TMEM104
  hgvsc: ENST00000417024.2:c.770-2456C>T
  variant of: http://identifiers.org/hgnc/25984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109066
  ensembl protein: ENSP00000463205
  ensembl transcript: ENST00000582773
  gene symbol: TMEM104
  hgvsc: ENST00000582773.1:c.731-2456C>T
  variant of: http://identifiers.org/hgnc/25984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala412Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-51015801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015801
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015801
    reference: chr 22
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.332A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-333A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.233A>G
  hgvsp: ENSP00000385486.3:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.186A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.233A>G
  hgvsp: ENSP00000379011.2:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.233A>G
  hgvsp: ENSP00000312189.7:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.233A>G
  hgvsp: ENSP00000406316.1:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*508A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.233A>G
  hgvsp: ENSP00000414713.1:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.233A>G
  hgvsp: ENSP00000409342.1:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.233A>G
  hgvsp: ENSP00000353945.2:p.Asp78Gly
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2441A>G
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp78Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

22-51015801-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015801
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015801
    reference: chr 22
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.233A>C
  hgvsp: ENSP00000409342.1:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.233A>C
  hgvsp: ENSP00000353945.2:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*508A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2441A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.233A>C
  hgvsp: ENSP00000312189.7:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.233A>C
  hgvsp: ENSP00000414713.1:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.233A>C
  hgvsp: ENSP00000379011.2:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.332A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.186A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.233A>C
  hgvsp: ENSP00000406316.1:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-333A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.233A>C
  hgvsp: ENSP00000385486.3:p.Asp78Ala
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp78Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

22-51015804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015804
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015804
    reference: chr 22
allele count: 4
allele frequency: 3.310326563715511e-5
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.230T>C
  hgvsp: ENSP00000414713.1:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.230T>C
  hgvsp: ENSP00000406316.1:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.183T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.230T>C
  hgvsp: ENSP00000312189.7:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*505T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.329T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.230T>C
  hgvsp: ENSP00000409342.1:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-336T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.230T>C
  hgvsp: ENSP00000353945.2:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.230T>C
  hgvsp: ENSP00000379011.2:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.230T>C
  hgvsp: ENSP00000385486.3:p.Val77Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2438T>C
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val77Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

22-51015805-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015805
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015805
    reference: chr 22
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.229G>C
  hgvsp: ENSP00000409342.1:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.229G>C
  hgvsp: ENSP00000414713.1:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.229G>C
  hgvsp: ENSP00000312189.7:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.229G>C
  hgvsp: ENSP00000379011.2:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2437G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-337G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.229G>C
  hgvsp: ENSP00000385486.3:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.229G>C
  hgvsp: ENSP00000353945.2:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.182G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.229G>C
  hgvsp: ENSP00000406316.1:p.Val77Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.328G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*504G>C
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val77Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

22-51015809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015809
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015809
    reference: chr 22
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.225C>T
  hgvsp: ENST00000405237.3:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.178C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2433C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.225C>T
  hgvsp: ENST00000417176.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*500C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.225C>T
  hgvsp: ENST00000312108.7:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.225C>T
  hgvsp: ENST00000395650.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.225C>T
  hgvsp: ENST00000360719.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.225C>T
  hgvsp: ENST00000457250.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.324C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.225C>T
  hgvsp: ENST00000440709.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-341C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys75Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

22-51015812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015812
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015812
    reference: chr 22
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.222C>T
  hgvsp: ENST00000405237.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.222C>T
  hgvsp: ENST00000395650.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-344C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*497C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.222C>T
  hgvsp: ENST00000440709.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.175C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.222C>T
  hgvsp: ENST00000360719.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.222C>T
  hgvsp: ENST00000312108.7:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.222C>T
  hgvsp: ENST00000417176.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.321C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.222C>T
  hgvsp: ENST00000457250.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2430C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe74Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-51015813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015813
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015813
    reference: chr 22
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.320T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2429T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.221T>C
  hgvsp: ENSP00000406316.1:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.221T>C
  hgvsp: ENSP00000414713.1:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.221T>C
  hgvsp: ENSP00000385486.3:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.221T>C
  hgvsp: ENSP00000409342.1:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.221T>C
  hgvsp: ENSP00000379011.2:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.221T>C
  hgvsp: ENSP00000353945.2:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*496T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.221T>C
  hgvsp: ENSP00000312189.7:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.174T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-345T>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe74Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-51015814-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015814
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015813
    reference: chr 22
allele count: 2
allele frequency: 1.655218074981379e-5
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*494delC
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.219delC
  hgvsp: ENSP00000353945.2:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2427delC
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.219delC
  hgvsp: ENSP00000385486.3:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.219delC
  hgvsp: ENSP00000312189.7:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.219delC
  hgvsp: ENSP00000406316.1:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.219delC
  hgvsp: ENSP00000414713.1:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-347delC
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.172delC
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.219delC
  hgvsp: ENSP00000409342.1:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.318delC
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.219delC
  hgvsp: ENSP00000379011.2:p.Phe74SerfsTer45
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe74SerfsTer45
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: AG
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

22-51015825-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015825
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015825
    reference: chr 22
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.209T>C
  hgvsp: ENSP00000406316.1:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.209T>C
  hgvsp: ENSP00000409342.1:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.209T>C
  hgvsp: ENSP00000379011.2:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-357T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*484T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.308T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.209T>C
  hgvsp: ENSP00000353945.2:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.209T>C
  hgvsp: ENSP00000414713.1:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.209T>C
  hgvsp: ENSP00000385486.3:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.162T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2417T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.209T>C
  hgvsp: ENSP00000312189.7:p.Val70Ala
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val70Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

22-51015834-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015834
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015834
    reference: chr 22
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*475T>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.200T>A
  hgvsp: ENSP00000379011.2:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.153T>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.200T>A
  hgvsp: ENSP00000406316.1:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-366T>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2408T>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.200T>A
  hgvsp: ENSP00000385486.3:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.200T>A
  hgvsp: ENSP00000409342.1:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.200T>A
  hgvsp: ENSP00000414713.1:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.200T>A
  hgvsp: ENSP00000312189.7:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.200T>A
  hgvsp: ENSP00000353945.2:p.Met67Lys
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.299T>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met67Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

22-51015838-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015838
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015838
    reference: chr 22
allele count: 13758
allele frequency: 1.139869757576762e-1
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.295A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-370A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*471A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.196A>G
  hgvsp: ENSP00000409342.1:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.196A>G
  hgvsp: ENSP00000406316.1:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.196A>G
  hgvsp: ENSP00000312189.7:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.196A>G
  hgvsp: ENSP00000353945.2:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.149A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.196A>G
  hgvsp: ENSP00000379011.2:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.196A>G
  hgvsp: ENSP00000385486.3:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.196A>G
  hgvsp: ENSP00000414713.1:p.Ile66Val
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2404A>G
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 1087
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 3.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 962
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 687
genotype depth: GenotypeDepth
  all individuals: 22408
  bin: 2.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 6.25e1
  variant carriers: 1147
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 939
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.75e1
  variant carriers: 767
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 1140
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 1207
genotype quality: GenotypeQuality
hgvs: p.Ile66Val
num of homozygotes: 1457
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

22-51015839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015839
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015839
    reference: chr 22
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.148C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2403C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.195C>T
  hgvsp: ENST00000417176.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.195C>T
  hgvsp: ENST00000405237.3:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.195C>T
  hgvsp: ENST00000457250.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.195C>T
  hgvsp: ENST00000312108.7:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.195C>T
  hgvsp: ENST00000395650.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*470C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.294C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.195C>T
  hgvsp: ENST00000360719.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.195C>T
  hgvsp: ENST00000440709.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-371C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val65Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-51015841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015841
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015841
    reference: chr 22
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-373G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.193G>A
  hgvsp: ENSP00000379011.2:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.193G>A
  hgvsp: ENSP00000406316.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.193G>A
  hgvsp: ENSP00000414713.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.193G>A
  hgvsp: ENSP00000353945.2:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2401G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.292G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.193G>A
  hgvsp: ENSP00000409342.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.193G>A
  hgvsp: ENSP00000312189.7:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.146G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*468G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.193G>A
  hgvsp: ENSP00000385486.3:p.Val65Ile
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val65Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-51015851-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015851
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015852
    reference: chr 22
allele count: 5
allele frequency: 4.14676220806794e-5
allele num: 120576
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.182dupG
  hgvsp: ENSP00000312189.7:p.Ser61ArgfsTer80
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.135dupG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.182dupG
  hgvsp: ENSP00000406316.1:p.Ser61ArgfsTer?
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.182dupG
  hgvsp: ENSP00000385486.3:p.Ser61ArgfsTer80
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-384dupG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.281dupG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.182dupG
  hgvsp: ENSP00000379011.2:p.Ser61ArgfsTer80
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.182dupG
  hgvsp: ENSP00000409342.1:p.Ser61ArgfsTer80
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.182dupG
  hgvsp: ENSP00000414713.1:p.Ser61ArgfsTer80
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*457dupG
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.182dupG
  hgvsp: ENSP00000353945.2:p.Ser61ArgfsTer80
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2390dupG
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser61ArgfsTer80
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

22-51015858-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015858
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015858
    reference: chr 22
allele count: 2
allele frequency: 1.659337924168257e-5
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*451C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.129C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-390C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2384C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.176C>A
  hgvsp: ENSP00000414713.1:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.176C>A
  hgvsp: ENSP00000312189.7:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.176C>A
  hgvsp: ENSP00000409342.1:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.176C>A
  hgvsp: ENSP00000379011.2:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.275C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.176C>A
  hgvsp: ENSP00000406316.1:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.176C>A
  hgvsp: ENSP00000353945.2:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.176C>A
  hgvsp: ENSP00000385486.3:p.Pro59His
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro59His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

22-51015861-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015861
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015859
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.171_172delCA
  hgvsp: ENSP00000379011.2:p.Ser58ProfsTer82
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-395_-394delCA
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.171_172delCA
  hgvsp: ENSP00000409342.1:p.Ser58ProfsTer82
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.171_172delCA
  hgvsp: ENSP00000312189.7:p.Ser58ProfsTer82
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.171_172delCA
  hgvsp: ENSP00000353945.2:p.Ser58ProfsTer82
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.171_172delCA
  hgvsp: ENSP00000385486.3:p.Ser58ProfsTer82
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2379_2380delCA
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.171_172delCA
  hgvsp: ENSP00000406316.1:p.Ser58ProfsTer?
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.270_271delCA
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.124_125delCA
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*446_*447delCA
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.171_172delCA
  hgvsp: ENSP00000414713.1:p.Ser58ProfsTer82
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser58ProfsTer82
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: CTG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-51015864-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015864
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015864
    reference: chr 22
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.170G>C
  hgvsp: ENSP00000414713.1:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.123G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.269G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.170G>C
  hgvsp: ENSP00000385486.3:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.170G>C
  hgvsp: ENSP00000409342.1:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.170G>C
  hgvsp: ENSP00000312189.7:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.170G>C
  hgvsp: ENSP00000379011.2:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-396G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2378G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.170G>C
  hgvsp: ENSP00000406316.1:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.170G>C
  hgvsp: ENSP00000353945.2:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*445G>C
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly57Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

22-51015867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015867
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015867
    reference: chr 22
allele count: 3
allele frequency: 2.491115023084333e-5
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2375C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.167C>T
  hgvsp: ENSP00000409342.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*442C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.167C>T
  hgvsp: ENSP00000406316.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.167C>T
  hgvsp: ENSP00000414713.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.167C>T
  hgvsp: ENSP00000353945.2:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.167C>T
  hgvsp: ENSP00000379011.2:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.120C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.167C>T
  hgvsp: ENSP00000312189.7:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-399C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.167C>T
  hgvsp: ENSP00000385486.3:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.266C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

22-51015869-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015869
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015869
    reference: chr 22
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-401C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2373C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.118C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*440C>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.165C>A
  hgvsp: ENSP00000409342.1:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.165C>A
  hgvsp: ENSP00000379011.2:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.165C>A
  hgvsp: ENSP00000312189.7:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.264C>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.165C>A
  hgvsp: ENSP00000406316.1:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.165C>A
  hgvsp: ENSP00000353945.2:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.165C>A
  hgvsp: ENSP00000385486.3:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.165C>A
  hgvsp: ENSP00000414713.1:p.Tyr55Ter
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr55Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

22-51015874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015874
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015874
    reference: chr 22
allele count: 2
allele frequency: 1.662980393461161e-5
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.160G>A
  hgvsp: ENSP00000414713.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-406G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.160G>A
  hgvsp: ENSP00000385486.3:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.160G>A
  hgvsp: ENSP00000353945.2:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.113G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*435G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.160G>A
  hgvsp: ENSP00000409342.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.160G>A
  hgvsp: ENSP00000312189.7:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.160G>A
  hgvsp: ENSP00000379011.2:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.160G>A
  hgvsp: ENSP00000406316.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.259G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2368G>A
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val54Met
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

22-51015875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015875
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015875
    reference: chr 22
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.112C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.159C>T
  hgvsp: ENST00000312108.7:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*434C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.159C>T
  hgvsp: ENST00000417176.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.258C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.159C>T
  hgvsp: ENST00000457250.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.159C>T
  hgvsp: ENST00000405237.3:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.159C>T
  hgvsp: ENST00000360719.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.159C>T
  hgvsp: ENST00000395650.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-407C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.159C>T
  hgvsp: ENST00000440709.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2367C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly53Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

22-51015875-G-GCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015875
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015878
    reference: chr 22
allele count: 11
allele frequency: 9.148826455079262e-5
allele num: 120234
alternate allele: GCCC
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*431_*433dupGGG
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-410_-408dupGGG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.156_158dupGGG
  hgvsp: ENSP00000312189.7:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.156_158dupGGG
  hgvsp: ENSP00000409342.1:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.156_158dupGGG
  hgvsp: ENSP00000406316.1:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.156_158dupGGG
  hgvsp: ENSP00000385486.3:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2364_2366dupGGG
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.156_158dupGGG
  hgvsp: ENSP00000379011.2:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.156_158dupGGG
  hgvsp: ENSP00000414713.1:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.156_158dupGGG
  hgvsp: ENSP00000353945.2:p.Gly53dup
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.109_111dupGGG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.255_257dupGGG
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly53dup
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

22-51015878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015878
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015878
    reference: chr 22
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.156G>A
  hgvsp: ENST00000360719.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2364G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-410G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*431G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.156G>A
  hgvsp: ENST00000457250.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.156G>A
  hgvsp: ENST00000405237.3:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.156G>A
  hgvsp: ENST00000417176.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.255G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.156G>A
  hgvsp: ENST00000440709.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.156G>A
  hgvsp: ENST00000312108.7:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.156G>A
  hgvsp: ENST00000395650.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.109G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg52Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

22-51015878-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015878
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015876
    reference: chr 22
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*429_*430delAG
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-412_-411delAG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.107_108delAG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.154_155delAG
  hgvsp: ENSP00000414713.1:p.Arg52GlyfsTer88
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.154_155delAG
  hgvsp: ENSP00000312189.7:p.Arg52GlyfsTer88
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.253_254delAG
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.154_155delAG
  hgvsp: ENSP00000385486.3:p.Arg52GlyfsTer88
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.154_155delAG
  hgvsp: ENSP00000379011.2:p.Arg52GlyfsTer88
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.154_155delAG
  hgvsp: ENSP00000406316.1:p.Arg52GlyfsTer?
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.154_155delAG
  hgvsp: ENSP00000409342.1:p.Arg52GlyfsTer88
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.154_155delAG
  hgvsp: ENSP00000353945.2:p.Arg52GlyfsTer88
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2362_2363delAG
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg52GlyfsTer88
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: CCT
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

22-51015884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015884
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015884
    reference: chr 22
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.150C>T
  hgvsp: ENST00000457250.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.103C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2358C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.150C>T
  hgvsp: ENST00000312108.7:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.150C>T
  hgvsp: ENST00000417176.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.150C>T
  hgvsp: ENST00000395650.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.150C>T
  hgvsp: ENST00000405237.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.150C>T
  hgvsp: ENST00000360719.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-416C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.150C>T
  hgvsp: ENST00000440709.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.249C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile50Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-51015902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015902
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015902
    reference: chr 22
allele count: 1
allele frequency: 8.430423713095819e-6
allele num: 118618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-10C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-10C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-10C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-10C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

22-51015908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015908
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015908
    reference: chr 22
allele count: 1
allele frequency: 8.475294516484449e-6
allele num: 117990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-16C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-16C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-16C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-16C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

22-51015910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015910
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015910
    reference: chr 22
allele count: 8
allele frequency: 6.797634423220719e-5
allele num: 117688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-18G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-18G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-18G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-51015911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015911
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015911
    reference: chr 22
allele count: 9
allele frequency: 7.65774964263835e-5
allele num: 117528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-19C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-19C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-19C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25468
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

22-51015913-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015913
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015913
    reference: chr 22
allele count: 3
allele frequency: 2.565593678377176e-5
allele num: 116932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-21G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-21G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-21G>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

22-51015913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015913
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015913
    reference: chr 22
allele count: 2
allele frequency: 1.710395785584784e-5
allele num: 116932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-21G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-21G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-21G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

22-51015915-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015915
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015915
    reference: chr 22
allele count: 1
allele frequency: 8.553588230262596e-6
allele num: 116910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-23A>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-23A>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-23A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-23A>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23446
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

22-51015918-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015918
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015918
    reference: chr 22
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-26A>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-26A>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-26A>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-26A>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

22-51015918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015918
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015918
    reference: chr 22
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-26A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-26A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-26A>G
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

22-51015924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015924
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015924
    reference: chr 22
allele count: 4
allele frequency: 3.467887363018449e-5
allele num: 115344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-32G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-32G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-32G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-32G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18141
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

22-51015925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015925
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015925
    reference: chr 22
allele count: 1
allele frequency: 8.700645587902622e-6
allele num: 114934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-33C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-33C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-33C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-33C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

22-51015929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015929
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015929
    reference: chr 22
allele count: 2
allele frequency: 1.741250217656277e-5
allele num: 114860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-37C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-37C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-37C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-37C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-51015931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015931
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015931
    reference: chr 22
allele count: 1
allele frequency: 8.800337932976626e-6
allele num: 113632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-39G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-39G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-39G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-39G>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

22-51015931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015931
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015931
    reference: chr 22
allele count: 458
allele frequency: 4.030554773303295e-3
allele num: 113632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-39G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-39G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-39G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11872
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 1.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 9
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

22-51015932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015932
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015932
    reference: chr 22
allele count: 2
allele frequency: 1.760284461969054e-5
allele num: 113618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-40C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-40C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-40C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

22-51015932-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015932
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015932
    reference: chr 22
allele count: 2
allele frequency: 1.760284461969054e-5
allele num: 113618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-40C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-40C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-40C>G
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

22-51015933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015933
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015933
    reference: chr 22
allele count: 1
allele frequency: 8.803901889317345e-6
allele num: 113586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-41C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-41C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-41C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

22-51015937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51015937
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51015937
    reference: chr 22
allele count: 1
allele frequency: 8.923950097271056e-6
allele num: 112058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2350-45C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.95-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*417-45C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.241-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-424-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.142-45C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

22-51016154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016154
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016154
    reference: chr 22
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+50T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+50T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+50T>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

22-51016158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016158
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016158
    reference: chr 22
allele count: 642
allele frequency: 5.345545378850958e-3
allele num: 120100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+46C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+46C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+46C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+46C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 23822
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
num of homozygotes: 30
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-51016158-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016158
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016158
    reference: chr 22
allele count: 2
allele frequency: 1.665278934221482e-5
allele num: 120100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+46C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+46C>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+46C>G
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

22-51016160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016160
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016160
    reference: chr 22
allele count: 3
allele frequency: 2.499291867304264e-5
allele num: 120034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+44G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+44G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+44G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+44G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

22-51016163-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016163
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016163
    reference: chr 22
allele count: 7
allele frequency: 5.830418124271198e-5
allele num: 120060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+41G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+41G>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+41G>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+41G>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23996
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/22-51016164-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016164
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016164
    reference: chr 22
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+40G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+40G>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+40G>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+40G>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-51016164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016164
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016164
    reference: chr 22
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+40G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+40G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+40G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-51016165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016165
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016165
    reference: chr 22
allele count: 41
allele frequency: 3.412287564292491e-4
allele num: 120154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+39C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+39C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+39C>T
  variant of: http://identifiers.org/hgnc/41998
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24107
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

22-51016166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016166
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016166
    reference: chr 22
allele count: 12
allele frequency: 9.984690141782599e-5
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+38C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+38C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+38C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24153
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

22-51016170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016170
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016170
    reference: chr 22
allele count: 15
allele frequency: 1.247525740614448e-4
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+34G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+34G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+34G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+34G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-51016172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016172
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016172
    reference: chr 22
allele count: 4
allele frequency: 3.326292680492956e-5
allele num: 120254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+32C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+32C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+32C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+32C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

22-51016177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016177
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016177
    reference: chr 22
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+27G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+27G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+27G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

22-51016182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016182
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016182
    reference: chr 22
allele count: 3
allele frequency: 2.491652962575373e-5
allele num: 120402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+22A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+22A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+22A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+22A>G
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

22-51016196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016196
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016196
    reference: chr 22
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+8C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+8C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+8C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.141+8C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

22-51016197-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016197
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016197
    reference: chr 22
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.240+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*416+7A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2349+7A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.94+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.141+7A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-425+7A>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.141+7A>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

22-51016205-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016205
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016205
    reference: chr 22
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.140A>G
  hgvsp: ENSP00000353945.2:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.140A>G
  hgvsp: ENSP00000312189.7:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-426A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.140A>G
  hgvsp: ENSP00000414713.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.93A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.140A>G
  hgvsp: ENSP00000385486.3:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2348A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.140A>G
  hgvsp: ENSP00000379011.2:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.140A>G
  hgvsp: ENSP00000409342.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.239A>G
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*415A>G
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.140A>G
  hgvsp: ENSP00000406316.1:p.Lys47Arg
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys47Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-51016208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016208
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016208
    reference: chr 22
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2345T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*412T>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-429T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.137T>C
  hgvsp: ENSP00000312189.7:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.90T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.137T>C
  hgvsp: ENSP00000414713.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.137T>C
  hgvsp: ENSP00000385486.3:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.137T>C
  hgvsp: ENSP00000379011.2:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.137T>C
  hgvsp: ENSP00000409342.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.236T>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.137T>C
  hgvsp: ENSP00000353945.2:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.137T>C
  hgvsp: ENSP00000406316.1:p.Ile46Thr
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile46Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-51016225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016225
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016225
    reference: chr 22
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.120G>A
  hgvsp: ENST00000395650.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.120G>A
  hgvsp: ENST00000312108.7:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.120G>A
  hgvsp: ENST00000360719.2:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.120G>A
  hgvsp: ENST00000417176.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.120G>A
  hgvsp: ENST00000457250.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-446G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2328G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.120G>A
  hgvsp: ENST00000440709.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.120G>A
  hgvsp: ENST00000405237.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.73G>A
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.219G>A
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys40Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

22-51016232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016232
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016232
    reference: chr 22
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.113C>T
  hgvsp: ENSP00000409342.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*388C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.113C>T
  hgvsp: ENSP00000406316.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000414713
  ensembl transcript: ENST00000440709
  gene symbol: CPT1B
  hgvsc: ENST00000440709.1:c.113C>T
  hgvsp: ENSP00000414713.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.66C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.113C>T
  hgvsp: ENSP00000379011.2:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000312189
  ensembl transcript: ENST00000312108
  gene symbol: CPT1B
  hgvsc: ENST00000312108.7:c.113C>T
  hgvsp: ENSP00000312189.7:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.113C>T
  hgvsp: ENSP00000385486.3:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.113C>T
  hgvsp: ENSP00000353945.2:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254413
  ensembl transcript: ENST00000492556
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000492556.1:n.2321C>T
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.212C>T
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-453C>T
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser38Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

22-51016235-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51016235
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 51016235
    reference: chr 22
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254413
  ensembl protein: ENSP00000457031
  ensembl transcript: ENST00000453634
  gene symbol: CHKB-CPT1B
  hgvsc: ENST00000453634.1:c.*385A>C
  variant of: http://identifiers.org/hgnc/41998
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000460853
  gene symbol: CPT1B
  hgvsc: ENST00000460853.1:n.209A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000406316
  ensembl transcript: ENST00000417176
  gene symbol: CPT1B
  hgvsc: ENST00000417176.1:c.110A>C
  hgvsp: ENSP00000406316.1:p.Asn37Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000205560
  ensembl transcript: ENST00000461117
  gene symbol: CPT1B
  hgvsc: ENST00000461117.1:n.63A>C
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000385486
  ensembl transcript: ENST00000405237
  gene symbol: CPT1B
  hgvsc: ENST00000405237.3:c.110A>C
  hgvsp: ENSP00000385486.3:p.Asn37Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000379011
  ensembl transcript: ENST00000395650
  gene symbol: CPT1B
  hgvsc: ENST00000395650.2:c.110A>C
  hgvsp: ENSP00000379011.2:p.Asn37Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000353945
  ensembl transcript: ENST00000360719
  gene symbol: CPT1B
  hgvsc: ENST00000360719.2:c.110A>C
  hgvsp: ENSP00000353945.2:p.Asn37Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000409342
  ensembl transcript: ENST00000457250
  gene symbol: CPT1B
  hgvsc: ENST00000457250.1:c.110A>C
  hgvsp: ENSP00000409342.1:p.Asn37Thr
  variant of: http://identifiers.org/hgnc/2329
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000205560
  ensembl protein: ENSP00000410966
  ensembl transcript: ENST00000434492
  gene symbol: CPT1B
  hgvsc: ENST00000434492.2:c.-456A>C
  variant of: http://identifiers.org/hgnc/2329
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asn37Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53035336756267e-5
allele num: 66220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.943878e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 3.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeQuality
all individuals: 4444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.938735944164405e-4
allele num: 10316
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: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.44e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.144e0

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.939227e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeQuality
all individuals: 4589
bin: 9.75e1
variant carriers: 102

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10702
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.544077552256892e-3
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 1.044979554747842e-3
allele num: 66030
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.935284e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeQuality
all individuals: 196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.165501165501166e-3
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.574609907589759e-5
allele num: 66010
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.92979e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.517036317849449e-4
allele num: 65918
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.687e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

DP
type: SiteQuality
SIO_000300: 1.923201e6

QD
type: SiteQuality
SIO_000300: 1.384e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3973
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
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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: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Latino
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African
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Other
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South Asian
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FS
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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MQ
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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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East Asian
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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DP
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele num: 66262
num of homozygotes: 0

South Asian
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European (Finnish)
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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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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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African
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European (Finnish)
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Other
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DP
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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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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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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MQRankSum
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MQ
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FS
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VQSLOD
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.018503426001389e-5
allele num: 66258
num of homozygotes: 0

BaseQRankSum
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DP
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SIO_000300: 1.751281e6

QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
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SIO_000300: 5.83e-1

MQ
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SIO_000300: 6.069e1

ReadPosRankSum
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SIO_000300: -9.27e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.105e0

InbreedingCoeff
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SIO_000300: 1.2e-3

MQ
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SIO_000300: 5.961e1

ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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SIO_000300: 2.06e-1

VQSLOD
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DP
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SIO_000300: 1.75126e6

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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SIO_000300: 3.89e-1

QD
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SIO_000300: 1.498e1

ReadPosRankSum
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SIO_000300: -5.88e-1

DP
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SIO_000300: 1.750907e6

VQSLOD
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MQ
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SIO_000300: 5.984e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -9.1e-1

MQRankSum
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SIO_000300: 1.14e-1

GenotypeDepth
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variant carriers: 558

GenotypeDepth
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variant carriers: 691

GenotypeDepth
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variant carriers: 2200

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12241

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 340
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GenotypeQuality
all individuals: 1032
bin: 8.25e1
variant carriers: 8

Latino
type: Population
allele count: 2520
allele frequency: 2.181818181818182e-1
allele num: 11550
num of homozygotes: 292

East Asian
type: Population
allele count: 3632
allele frequency: 4.21737111007896e-1
allele num: 8612
num of homozygotes: 782

European (Non-Finnish)
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allele count: 3439
allele frequency: 5.195020997613221e-2
allele num: 66198
num of homozygotes: 94

Other
type: Population
allele count: 96
allele frequency: 1.06430155210643e-1
allele num: 902
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European (Finnish)
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allele count: 473
allele frequency: 7.177541729893779e-2
allele num: 6590
num of homozygotes: 13

African
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allele count: 1189
allele frequency: 1.149458623356535e-1
allele num: 10344
num of homozygotes: 70

South Asian
type: Population
allele count: 2409
allele frequency: 1.459823051751303e-1
allele num: 16502
num of homozygotes: 204

FS
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SIO_000300: 0.0e0

ClippingRankSum
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MQ
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SIO_000300: 5.963e1

BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.025e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.489e1

ReadPosRankSum
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SIO_000300: 3.55e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 2
allele frequency: 1.934235976789168e-4
allele num: 10340
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

QD
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SIO_000300: 1.75e1

MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
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African
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allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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East Asian
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QD
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.567960283344433e-5
allele num: 66068
num of homozygotes: 0

South Asian
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African
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Other
type: Population
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allele num: 900
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

South Asian
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allele frequency: 1.212121212121212e-4
allele num: 16500
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.964e1

ReadPosRankSum
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QD
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SIO_000300: 1.063e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

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

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

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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SIO_000300: 2.909e1

DP
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BaseQRankSum
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SIO_000300: -2.551e0

FS
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ClippingRankSum
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SIO_000300: -2.48e-1

MQ
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SIO_000300: 5.972e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
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African
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ReadPosRankSum
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SIO_000300: 1.66e0

BaseQRankSum
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SIO_000300: 9.67e-1

VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.939e1

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.683119e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.547383738555751e-5
allele num: 65972
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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MQ
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SIO_000300: 5.948e1

VQSLOD
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SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
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SIO_000300: 1.682327e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele num: 65888
num of homozygotes: 0

African
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East Asian
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European (Finnish)
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South Asian
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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East Asian
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Other
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65854
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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FS
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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European (Finnish)
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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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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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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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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Non-Finnish)
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East Asian
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MQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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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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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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InbreedingCoeff
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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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QD
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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African
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
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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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
all individuals: 429
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GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553180914512922e-5
allele num: 64384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.969715082685794e-4
allele num: 10038
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
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SIO_000300: -3.23e-1

BaseQRankSum
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SIO_000300: -1.872e0

QD
type: SiteQuality
SIO_000300: 1.05e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.562039e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 1284
bin: 9.75e1
variant carriers: 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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.005025125628141e-4
allele num: 9950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.370229912301493e-4
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.508011e6

QD
type: SiteQuality
SIO_000300: 1.114e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 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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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
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variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64058
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.244536030972898e-5
allele num: 16014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 2.67e0

DP
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SIO_000300: 1.508011e6

InbreedingCoeff
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SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32523
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 107
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GenotypeQuality
all individuals: 1070
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561231499406732e-5
allele num: 64052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.946e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.862e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

DP
type: SiteQuality
SIO_000300: 1.505894e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

GenotypeDepth
all individuals: 64
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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
all individuals: 6956
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 477
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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
all individuals: 143
bin: 1.25e1
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GenotypeQuality
all individuals: 1693
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30174
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567299855808413e-5
allele num: 63804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.185e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.470005e6

ClippingRankSum
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SIO_000300: 1.17e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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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
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.095004095004095e-4
allele num: 9768
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQ
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588966218578193e-5
allele num: 62934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.1758e1

DP
type: SiteQuality
SIO_000300: 1.348934e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 3.293e1

GenotypeDepth
all individuals: 7530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1584
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GenotypeQuality
all individuals: 3908
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590634344976777e-5
allele num: 62868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.625487646293888e-4
allele num: 6152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

DP
type: SiteQuality
SIO_000300: 1.311583e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
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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GenotypeQuality
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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: 4042
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15958
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606632177629254e-5
allele num: 62242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.274844e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4042
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6293
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1670
bin: 9.75e1
variant carriers: 433

GenotypeQuality
all individuals: 2888
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2740
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 7936
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variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6603
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 903
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1519
bin: 7.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 15958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.891937919732656e-4
allele num: 62242
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 3.210479003467317e-3
allele num: 15574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.709048221058335e-4
allele num: 11074
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.640776699029126e-3
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

East Asian
type: Population
allele count: 383
allele frequency: 4.663906478324403e-2
allele num: 8212
num of homozygotes: 9

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.274844e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 3704
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 6754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3164
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variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 459
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GenotypeQuality
all individuals: 515
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variant carriers: 0

GenotypeQuality
all individuals: 1270
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variant carriers: 0

GenotypeQuality
all individuals: 2899
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variant carriers: 0

GenotypeQuality
all individuals: 1510
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variant carriers: 0

GenotypeQuality
all individuals: 15573
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.80635838150289e-4
allele num: 11072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62168
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.262984e6

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 704
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.217089177712006e-5
allele num: 62168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
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SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.262984e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
all individuals: 1503
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608958681941048e-5
allele num: 62152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 1.255375e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeDepth
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variant carriers: 0

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
all individuals: 710
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GenotypeQuality
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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: 4198
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GenotypeQuality
all individuals: 1240
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GenotypeQuality
all individuals: 11071
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GenotypeQuality
all individuals: 1179
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variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.145783793671118e-5
allele num: 10934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

DP
type: SiteQuality
SIO_000300: 1.226063e6

VQSLOD
type: SiteQuality
SIO_000300: -2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeDepth
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 1.4709e1

QD
type: SiteQuality
SIO_000300: 7.49e0

DP
type: SiteQuality
SIO_000300: 1.800359e6

GenotypeDepth
all individuals: 65
bin: 8.25e1
variant carriers: 15

GenotypeQuality
all individuals: 10637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 2

GenotypeQuality
all individuals: 526
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 9.75e1
variant carriers: 605

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
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variant carriers: 1

GenotypeQuality
all individuals: 632
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
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variant carriers: 2

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36339
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2374
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 575
allele frequency: 5.565234223770809e-2
allele num: 10332
num of homozygotes: 30

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: 33
allele frequency: 5.01154173247479e-4
allele num: 65848
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.422983731394946e-3
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.63063063063063e-3
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.803969e6

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.53e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

GenotypeDepth
all individuals: 309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2374
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variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36339
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037298019681691e-5
allele num: 65848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

DP
type: SiteQuality
SIO_000300: 1.803969e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.749e0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.53e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeDepth
all individuals: 17165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 36604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 281
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variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 614
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 520
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 2389
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variant carriers: 0

GenotypeQuality
all individuals: 591
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GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 2150
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variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0389594602808e-5
allele num: 65812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.796053e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 2.436e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
all individuals: 211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37006
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variant carriers: 0

GenotypeQuality
all individuals: 2392
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variant carriers: 0

GenotypeQuality
all individuals: 614
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 430
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GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 278
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GenotypeQuality
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GenotypeQuality
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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: 1085
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 586
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GenotypeQuality
all individuals: 516
bin: 3.25e1
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GenotypeQuality
all individuals: 10662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.775067750677507e-4
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 8.4e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeDepth
all individuals: 7683
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 364
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 83
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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: 210
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GenotypeQuality
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GenotypeQuality
all individuals: 623
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GenotypeQuality
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GenotypeQuality
all individuals: 10690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 37280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 6.501e0

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.80057e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeDepth
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 623
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 2126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.80057e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 6.501e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 10735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 3.546712802768166e-3
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.803263e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeDepth
all individuals: 283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
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GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.372818874416319e-4
allele num: 16276
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.627e0

DP
type: SiteQuality
SIO_000300: 1.802534e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 9.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeDepth
all individuals: 4947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
all individuals: 161
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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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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 10768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.257983355912522e-3
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.805918e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

FS
type: SiteQuality
SIO_000300: 2.886e0

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.145e0

GenotypeDepth
all individuals: 4947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
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variant carriers: 0

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 38312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10782
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variant carriers: 0

GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03425675880693e-5
allele num: 65914
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.267e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 1.806725e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 512
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GenotypeQuality
all individuals: 2385
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GenotypeQuality
all individuals: 1094
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GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 170
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 38566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10794
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.668e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 8.300000000000001e0

DP
type: SiteQuality
SIO_000300: 1.810721e6

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 9.25e0

GenotypeDepth
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variant carriers: 0

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: 0

GenotypeQuality
all individuals: 1095
bin: 8.25e1
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GenotypeQuality
all individuals: 3069
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 3
allele frequency: 2.901915264074289e-4
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.333e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

DP
type: SiteQuality
SIO_000300: 1.814588e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3072
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 420
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GenotypeQuality
all individuals: 39348
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GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 2404
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GenotypeQuality
all individuals: 10866
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.820211e6

FS
type: SiteQuality
SIO_000300: 1.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

Latino
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allele num: 11564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 8.196999999999999e0

QD
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SIO_000300: 1.168e1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: 2.91e-1

ReadPosRankSum
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SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.820261e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
SIO_000300: 1.512e0

DP
type: SiteQuality
SIO_000300: 1.821651e6

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
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SIO_000300: 2.28e0

VQSLOD
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SIO_000300: -6.1e-3

QD
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SIO_000300: 1.261e1

MQRankSum
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SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele count: 1
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allele num: 10342
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 1.8218e6

ClippingRankSum
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SIO_000300: 1.92e0

BaseQRankSum
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SIO_000300: 2.07e0

QD
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SIO_000300: 9.76e0

ReadPosRankSum
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SIO_000300: -2.086e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 34
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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BaseQRankSum
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SIO_000300: -4.813e0

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.822748e6

GenotypeDepth
all individuals: 420
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 14
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512264464809606e-5
allele num: 66126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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SIO_000300: 1.58e-1

QD
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ClippingRankSum
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SIO_000300: 6.63e-1

BaseQRankSum
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