19-49539034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539034
    reference: chr 19
allele count: 1
allele frequency: 1.15628324314324e-5
allele num: 86484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+749G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.265G>A
  hgvsp: ENSP00000472896.2:p.Ala89Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.301G>A
  hgvsp: ENSP00000301407.6:p.Ala101Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.301G>A
  hgvsp: ENSP00000375742.3:p.Ala101Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+926G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala101Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-49539035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539035
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539035
    reference: chr 19
allele count: 14
allele frequency: 1.620933194396202e-4
allele num: 86370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+748C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.300C>T
  hgvsp: ENST00000301407.7:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.300C>T
  hgvsp: ENST00000391869.3:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.264C>T
  hgvsp: ENST00000601167.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+925C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr100Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-49539035-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539035
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539035
    reference: chr 19
allele count: 1
allele frequency: 1.157809424568716e-5
allele num: 86370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.264C>G
  hgvsp: ENSP00000472896.2:p.Tyr88Ter
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.300C>G
  hgvsp: ENSP00000375742.3:p.Tyr100Ter
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.300C>G
  hgvsp: ENSP00000301407.6:p.Tyr100Ter
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+748C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+925C>G
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr100Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-49539045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539045
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539045
    reference: chr 19
allele count: 1
allele frequency: 1.379576745854372e-5
allele num: 72486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.254T>C
  hgvsp: ENSP00000472896.2:p.Val85Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+738T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.290T>C
  hgvsp: ENSP00000375742.3:p.Val97Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.290T>C
  hgvsp: ENSP00000301407.6:p.Val97Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+915T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12132
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val97Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-49539046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539046
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539046
    reference: chr 19
allele count: 348
allele frequency: 4.812079980087945e-3
allele num: 72318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+737G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.289G>A
  hgvsp: ENSP00000375742.3:p.Val97Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.289G>A
  hgvsp: ENSP00000301407.6:p.Val97Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+914G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.253G>A
  hgvsp: ENSP00000472896.2:p.Val85Met
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16087
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17096
  bin: 1.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6243
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 29430
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 8
hgvs: p.Val97Met
num of homozygotes: 15
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

19-49539047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539047
    reference: chr 19
allele count: 2
allele frequency: 2.785360147067016e-5
allele num: 71804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.252C>G
  hgvsp: ENST00000601167.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+913C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+736C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.288C>G
  hgvsp: ENST00000301407.7:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.288C>G
  hgvsp: ENST00000391869.3:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro96Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49539047-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539047
    reference: chr 19
allele count: 1
allele frequency: 1.392680073533508e-5
allele num: 71804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+913C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.252C>A
  hgvsp: ENST00000601167.1:c.252C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.288C>A
  hgvsp: ENST00000301407.7:c.288C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+736C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.288C>A
  hgvsp: ENST00000391869.3:c.288C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro96Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49539050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539050
    reference: chr 19
allele count: 1
allele frequency: 1.497140461718118e-5
allele num: 66794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+910C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.285C>T
  hgvsp: ENST00000391869.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.285C>T
  hgvsp: ENST00000301407.7:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+733C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.249C>T
  hgvsp: ENST00000601167.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn95Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-49539050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539050
    reference: chr 19
allele count: 1
allele frequency: 1.497140461718118e-5
allele num: 66794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+910C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.285C>A
  hgvsp: ENSP00000375742.3:p.Asn95Lys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.285C>A
  hgvsp: ENSP00000301407.6:p.Asn95Lys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.249C>A
  hgvsp: ENSP00000472896.2:p.Asn83Lys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+733C>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn95Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-49539055-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539055
    reference: chr 19
allele count: 7
allele frequency: 1.212961358516722e-4
allele num: 57710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+905G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.244G>T
  hgvsp: ENSP00000472896.2:p.Val82Leu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.280G>T
  hgvsp: ENSP00000375742.3:p.Val94Leu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.280G>T
  hgvsp: ENSP00000301407.6:p.Val94Leu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+728G>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9097
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val94Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-49539055-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539055
    reference: chr 19
allele count: 1
allele frequency: 1.732801940738174e-5
allele num: 57710
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.280G>C
  hgvsp: ENSP00000301407.6:p.Val94Leu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+728G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.280G>C
  hgvsp: ENSP00000375742.3:p.Val94Leu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.244G>C
  hgvsp: ENSP00000472896.2:p.Val82Leu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+905G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9097
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val94Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

19-49539055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539055
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 57710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+728G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.244G>A
  hgvsp: ENSP00000472896.2:p.Val82Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+905G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.280G>A
  hgvsp: ENSP00000301407.6:p.Val94Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.280G>A
  hgvsp: ENSP00000375742.3:p.Val94Met
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9097
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val94Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-49539059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539059
    reference: chr 19
allele count: 1
allele frequency: 1.948178453146308e-5
allele num: 51330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+901C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.276C>T
  hgvsp: ENST00000301407.7:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.240C>T
  hgvsp: ENST00000601167.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.276C>T
  hgvsp: ENST00000391869.3:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+724C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10506
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg92Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

19-49539060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539060
    reference: chr 19
allele count: 16
allele frequency: 3.16205533596838e-4
allele num: 50600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.239G>A
  hgvsp: ENSP00000472896.2:p.Arg80His
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+900G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.275G>A
  hgvsp: ENSP00000301407.6:p.Arg92His
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.275G>A
  hgvsp: ENSP00000375742.3:p.Arg92His
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+723G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21019
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg92His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-49539062-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539062
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539061
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 49158
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.272delC
  hgvsp: ENSP00000301407.6:p.Pro91ArgfsTer4
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+897delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.272delC
  hgvsp: ENSP00000375742.3:p.Pro91ArgfsTer4
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+720delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.236delC
  hgvsp: ENSP00000472896.2:p.Pro79ArgfsTer4
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro91ArgfsTer4
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: CG
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-49539072-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539072
    reference: chr 19
allele count: 1
allele frequency: 2.546213780108978e-5
allele num: 39274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.263C>G
  hgvsp: ENSP00000375742.3:p.Pro88Arg
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+711C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.227C>G
  hgvsp: ENSP00000472896.2:p.Pro76Arg
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.263C>G
  hgvsp: ENSP00000301407.6:p.Pro88Arg
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+888C>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21981
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro88Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/19-49539077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539077
    reference: chr 19
allele count: 7
allele frequency: 2.033228767282444e-4
allele num: 34428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.222G>T
  hgvsp: ENST00000601167.1:c.222G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+706G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.258G>T
  hgvsp: ENST00000391869.3:c.258G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.258G>T
  hgvsp: ENST00000301407.7:c.258G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+883G>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg86Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-49539079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539079
    reference: chr 19
allele count: 15
allele frequency: 4.999000199960008e-4
allele num: 30006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.220C>T
  hgvsp: ENSP00000472896.2:p.Arg74Trp
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+881C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.256C>T
  hgvsp: ENSP00000375742.3:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+704C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.256C>T
  hgvsp: ENSP00000301407.6:p.Arg86Trp
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18451
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21045
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19121
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Arg86Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-49539082-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539082
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28670
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+701A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.253A>T
  hgvsp: ENSP00000375742.3:p.Ile85Phe
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.217A>T
  hgvsp: ENSP00000472896.2:p.Ile73Phe
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.253A>T
  hgvsp: ENSP00000301407.6:p.Ile85Phe
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+878A>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile85Phe
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

19-49539084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539084
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539084
    reference: chr 19
allele count: 2
allele frequency: 7.913270554720265e-5
allele num: 25274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+876C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.251C>T
  hgvsp: ENSP00000301407.6:p.Ser84Phe
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.215C>T
  hgvsp: ENSP00000472896.2:p.Ser72Phe
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+699C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.251C>T
  hgvsp: ENSP00000375742.3:p.Ser84Phe
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser84Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

19-49539084-GACTCGAAGCGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539084
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539071
    reference: chr 19
allele count: 3
allele frequency: 1.18699058320804e-4
allele num: 25274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsp: ENSP00000301407.6:p.Val80ProfsTer11
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsp: ENSP00000472896.2:p.Val68ProfsTer11
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsp: ENSP00000375742.3:p.Val80ProfsTer11
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val80ProfsTer11
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: GACTCGAAGCGCAC
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-49539088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539088
    reference: chr 19
allele count: 1
allele frequency: 4.275696938600992e-5
allele num: 23388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+872G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.247G>C
  hgvsp: ENSP00000301407.6:p.Glu83Gln
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.211G>C
  hgvsp: ENSP00000472896.2:p.Glu71Gln
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.247G>C
  hgvsp: ENSP00000375742.3:p.Glu83Gln
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+695G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu83Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-49539088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539088
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+695G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.247G>A
  hgvsp: ENSP00000301407.6:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+872G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.247G>A
  hgvsp: ENSP00000375742.3:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.211G>A
  hgvsp: ENSP00000472896.2:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu83Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

19-49539094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539094
    reference: chr 19
allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+689C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+866C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.241C>T
  hgvsp: ENSP00000375742.3:p.Arg81Cys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.241C>T
  hgvsp: ENSP00000301407.6:p.Arg81Cys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.205C>T
  hgvsp: ENSP00000472896.2:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg81Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/19-49539098-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539098
    reference: chr 19
allele count: 11
allele frequency: 7.536311318169361e-4
allele num: 14596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.201T>G
  hgvsp: ENSP00000472896.2:p.Asp67Glu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+685T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.237T>G
  hgvsp: ENSP00000301407.6:p.Asp79Glu
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+862T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.237T>G
  hgvsp: ENSP00000375742.3:p.Asp79Glu
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16918
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17052
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
hgvs: p.Asp79Glu
num of homozygotes: 1
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-49539101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539101
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539101
    reference: chr 19
allele count: 1
allele frequency: 8.358408559010364e-5
allele num: 11964
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+682C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.234C>T
  hgvsp: ENST00000391869.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.234C>T
  hgvsp: ENST00000301407.7:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.198C>T
  hgvsp: ENST00000601167.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+859C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg78Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-49539103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539103
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 11342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+857C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.232C>T
  hgvsp: ENSP00000375742.3:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.232C>T
  hgvsp: ENSP00000301407.6:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.196C>T
  hgvsp: ENSP00000472896.2:p.Arg66Cys
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+680C>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg78Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

19-49539108-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539108
    reference: chr 19
allele count: 6
allele frequency: 5.946481665014867e-4
allele num: 10090
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.227A>C
  hgvsp: ENSP00000301407.6:p.Asn76Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.227A>C
  hgvsp: ENSP00000375742.3:p.Asn76Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+675A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.191A>C
  hgvsp: ENSP00000472896.2:p.Asn64Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+852A>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15012
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29988
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14053
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Asn76Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-49539118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539118
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 7726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.181G>A
  hgvsp: ENSP00000472896.2:p.Val61Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+842G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.217G>A
  hgvsp: ENSP00000375742.3:p.Val73Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+665G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.217G>A
  hgvsp: ENSP00000301407.6:p.Val73Met
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val73Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

19-49539128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539128
    reference: chr 19
allele count: 6
allele frequency: 1.205787781350482e-3
allele num: 4976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.207C>T
  hgvsp: ENST00000301407.7:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.171C>T
  hgvsp: ENST00000601167.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+655C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+832C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.207C>T
  hgvsp: ENST00000391869.3:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32578
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31523
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ala69Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-49539130-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539130
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539130
    reference: chr 19
allele count: 31
allele frequency: 7.026291931097008e-3
allele num: 4412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.169G>C
  hgvsp: ENSP00000472896.2:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.205G>C
  hgvsp: ENSP00000301407.6:p.Ala69Pro
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.205G>C
  hgvsp: ENSP00000375742.3:p.Ala69Pro
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+653G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+830G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 7.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 32408
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7458
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 31005
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 3
hgvs: p.Ala69Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-49539131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539131
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539131
    reference: chr 19
allele count: 2
allele frequency: 4.616805170821791e-4
allele num: 4332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.204G>A
  hgvsp: ENST00000391869.3:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+652G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.204G>A
  hgvsp: ENST00000301407.7:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+829G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.168G>A
  hgvsp: ENST00000601167.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro68Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-49539143-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539144
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2870
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.155dupA
  hgvsp: ENSP00000472896.2:p.Val54GlyfsTer52
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.191dupA
  hgvsp: ENSP00000375742.3:p.Val66GlyfsTer52
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+816dupA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.191dupA
  hgvsp: ENSP00000301407.6:p.Val66GlyfsTer52
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+639dupA
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32003
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 6.25e1
  variant carriers: 2
hgvs: p.Val66GlyfsTer52
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

19-49539149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539149
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539149
    reference: chr 19
allele count: 1
allele frequency: 4.212299915754001e-4
allele num: 2374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+634G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.186G>A
  hgvsp: ENST00000391869.3:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.150G>A
  hgvsp: ENST00000601167.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.186G>A
  hgvsp: ENST00000301407.7:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+811G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val62Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-49539178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539178
    reference: chr 19
allele count: 11
allele frequency: 1.167728237791932e-2
allele num: 942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+782C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+605C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.142-21C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.178-21C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.178-21C>T
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26329
  bin: 2.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22158
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-49539187-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539187
    reference: chr 19
allele count: 1
allele frequency: 1.282051282051282e-3
allele num: 780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.178-30T>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.178-30T>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+596T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.142-30T>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+773T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20454
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

19-49539342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539342
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539342
    reference: chr 19
allele count: 1
allele frequency: 1.021158402091332e-5
allele num: 97928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+51C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+51C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+441C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+618C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+51C>T
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

19-49539343-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539343
    reference: chr 19
allele count: 1
allele frequency: 1.020845668551828e-5
allele num: 97958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+50A>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+617A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+50A>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+440A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+50A>T
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-49539354-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539354
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539354
    reference: chr 19
allele count: 2
allele frequency: 2.026424576477264e-5
allele num: 98696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+429G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+39G>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+39G>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+39G>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+606G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-49539357-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539357
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539357
    reference: chr 19
allele count: 1
allele frequency: 1.010121416594275e-5
allele num: 98998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+36T>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+36T>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+426T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+603T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+36T>G
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22047
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

19-49539357-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539357
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539357
    reference: chr 19
allele count: 1
allele frequency: 1.010121416594275e-5
allele num: 98998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+36T>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+603T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+36T>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+426T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+36T>A
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-49539367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539367
    reference: chr 19
allele count: 1
allele frequency: 9.904128040567309e-6
allele num: 100968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+416T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+593T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+26T>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+26T>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+26T>C
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-49539368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539368
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539368
    reference: chr 19
allele count: 36
allele frequency: 3.558015418066812e-4
allele num: 101180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+25G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+25G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+592G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+25G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+415G>A
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28955
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6599
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-49539371-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539371
    reference: chr 19
allele count: 1
allele frequency: 9.777464898901012e-6
allele num: 102276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+22C>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+22C>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+589C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+412C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+22C>G
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

19-49539375-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539375
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539375
    reference: chr 19
allele count: 4672
allele frequency: 4.557781983493649e-2
allele num: 102506
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+18A>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+18A>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+585A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+408A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+18A>G
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 1.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 7.5e0
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 708
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 27826
  bin: 2.25e1
  variant carriers: 518
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 3.25e1
  variant carriers: 705
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 368
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 549
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 9.25e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 3.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 9.75e1
  variant carriers: 3192
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 26269
  bin: 6.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 8.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 2.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 41
num of homozygotes: 6
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-49539375-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539375
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539375
    reference: chr 19
allele count: 346
allele frequency: 3.375412170994868e-3
allele num: 102506
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+408A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+18A>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+18A>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+18A>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+585A>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 27826
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 9.75e1
  variant carriers: 212
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 26269
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 8
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-49539377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539377
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539377
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 104924
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+16C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+406C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+583C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+16C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+16C>T
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-49539377-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539377
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539377
    reference: chr 19
allele count: 1
allele frequency: 9.530707940985856e-6
allele num: 104924
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+406C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+16C>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+16C>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+583C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+16C>A
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-49539378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539378
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539378
    reference: chr 19
allele count: 517
allele frequency: 4.923059343338158e-3
allele num: 105016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+15G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+405G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+582G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+15G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+15G>A
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 27693
  bin: 2.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 3.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 5
num of homozygotes: 14
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-49539381-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539381
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539381
    reference: chr 19
allele count: 1
allele frequency: 9.488026111047858e-6
allele num: 105396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+12G>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+12G>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+12G>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+579G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+402G>T
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49539381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539381
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539381
    reference: chr 19
allele count: 3
allele frequency: 2.846407833314357e-5
allele num: 105396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+579G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+12G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+12G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+12G>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+402G>A
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-49539381-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539381
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539380
    reference: chr 19
allele count: 1
allele frequency: 9.488026111047858e-6
allele num: 105396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+578delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+11delC
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+401delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+11delC
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+11delC
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: CG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

19-49539382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539382
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539382
    reference: chr 19
allele count: 1
allele frequency: 9.46736598943442e-6
allele num: 105626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+11C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+578C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+401C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+11C>T
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+11C>T
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

19-49539386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539386
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539386
    reference: chr 19
allele count: 1
allele frequency: 9.420808682217281e-6
allele num: 106148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+574T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+7T>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+397T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+7T>C
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+7T>C
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
hgvs: c.177+7T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-49539387-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539387
    reference: chr 19
allele count: 10
allele frequency: 9.418146885418825e-5
allele num: 106178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+396C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+6C>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+6C>G
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+573C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+6C>G
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27678
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
hgvs: c.177+6C>G
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

19-49539387-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539387
    reference: chr 19
allele count: 1
allele frequency: 9.418146885418825e-6
allele num: 106178
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+396C>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177+6C>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141+6C>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177+6C>A
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+573C>A
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
hgvs: c.177+6C>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

19-49539393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539393
    reference: chr 19
allele count: 1
allele frequency: 9.376640912159629e-6
allele num: 106648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+567G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.141G>C
  hgvsp: ENSP00000472896.2:p.Met47Ile
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.177G>C
  hgvsp: ENSP00000375742.3:p.Met59Ile
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.177G>C
  hgvsp: ENSP00000301407.6:p.Met59Ile
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+390G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met59Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-49539394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539394
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539394
    reference: chr 19
allele count: 1
allele frequency: 9.37049045147023e-6
allele num: 106718
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+389T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.176T>C
  hgvsp: ENSP00000301407.6:p.Met59Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+566T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.140T>C
  hgvsp: ENSP00000472896.2:p.Met47Thr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.176T>C
  hgvsp: ENSP00000375742.3:p.Met59Thr
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met59Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49539396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539396
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539396
    reference: chr 19
allele count: 1
allele frequency: 9.358564021936475e-6
allele num: 106854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.174C>T
  hgvsp: ENST00000391869.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+387C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.174C>T
  hgvsp: ENST00000301407.7:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+564C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.138C>T
  hgvsp: ENST00000601167.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr58Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-49539403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539403
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539403
    reference: chr 19
allele count: 484
allele frequency: 4.521336223002765e-3
allele num: 107048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.131G>A
  hgvsp: ENSP00000472896.2:p.Cys44Tyr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+557G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.167G>A
  hgvsp: ENSP00000375742.3:p.Cys56Tyr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.167G>A
  hgvsp: ENSP00000301407.6:p.Cys56Tyr
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+380G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 3.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 25988
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 2.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.25e1
  variant carriers: 8
hgvs: p.Cys56Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

19-49539412-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539412
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539412
    reference: chr 19
allele count: 1
allele frequency: 9.279020135473694e-6
allele num: 107770
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.158C>A
  hgvsp: ENSP00000301407.6:p.Ala53Asp
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+371C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.122C>A
  hgvsp: ENSP00000472896.2:p.Ala41Asp
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+548C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.158C>A
  hgvsp: ENSP00000375742.3:p.Ala53Asp
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala53Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-49539417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539417
    reference: chr 19
allele count: 1
allele frequency: 9.24402373865296e-6
allele num: 108178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.117C>A
  hgvsp: ENST00000601167.1:c.117C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+543C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.153C>A
  hgvsp: ENST00000391869.3:c.153C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.153C>A
  hgvsp: ENST00000301407.7:c.153C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+366C>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile51Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-49539419-TGGTGGTGTTGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539407
    reference: chr 19
allele count: 1
allele frequency: 9.232416862086156e-6
allele num: 108314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsp: ENSP00000301407.6:p.Val47_Thr50del
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsp: ENSP00000375742.3:p.Val47_Thr50del
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsp: ENSP00000472896.2:p.Val35_Thr38del
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val47_Thr50del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: TGGTGGTGTTGAC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

19-49539421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539421
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539421
    reference: chr 19
allele count: 1
allele frequency: 9.225943352707814e-6
allele num: 108390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.149C>T
  hgvsp: ENSP00000301407.6:p.Thr50Ile
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+362C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.149C>T
  hgvsp: ENSP00000375742.3:p.Thr50Ile
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+539C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.113C>T
  hgvsp: ENSP00000472896.2:p.Thr38Ile
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr50Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49539422-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539422
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539422
    reference: chr 19
allele count: 1
allele frequency: 9.230542017427263e-6
allele num: 108336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+538A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.112A>C
  hgvsp: ENSP00000472896.2:p.Thr38Pro
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.148A>C
  hgvsp: ENSP00000375742.3:p.Thr50Pro
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.148A>C
  hgvsp: ENSP00000301407.6:p.Thr50Pro
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+361A>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr50Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-49539423-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539423
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539423
    reference: chr 19
allele count: 1
allele frequency: 9.228667934070397e-6
allele num: 108358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.147C>G
  hgvsp: ENST00000301407.7:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.111C>G
  hgvsp: ENST00000601167.1:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+537C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+360C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.147C>G
  hgvsp: ENST00000391869.3:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr49Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-49539424-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539424
    reference: chr 19
allele count: 1
allele frequency: 9.216759755940201e-6
allele num: 108498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+536C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+359C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.146C>A
  hgvsp: ENSP00000301407.6:p.Thr49Asn
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.110C>A
  hgvsp: ENSP00000472896.2:p.Thr37Asn
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.146C>A
  hgvsp: ENSP00000375742.3:p.Thr49Asn
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr49Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

19-49539432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539432
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539432
    reference: chr 19
allele count: 1
allele frequency: 9.191176470588234e-6
allele num: 108800
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+351C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.102C>T
  hgvsp: ENST00000601167.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.138C>T
  hgvsp: ENST00000301407.7:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.138C>T
  hgvsp: ENST00000391869.3:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+528C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23128
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr46Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-49539435-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539435
    reference: chr 19
allele count: 3
allele frequency: 2.76380520700901e-5
allele num: 108546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+525C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+348C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.135C>A
  hgvsp: ENST00000301407.7:c.135C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.135C>A
  hgvsp: ENST00000391869.3:c.135C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.99C>A
  hgvsp: ENST00000601167.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile45Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

19-49539442-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539442
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539442
    reference: chr 19
allele count: 1
allele frequency: 9.353137042163941e-6
allele num: 106916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.128T>C
  hgvsp: ENSP00000375742.3:p.Val43Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.92T>C
  hgvsp: ENSP00000472896.2:p.Val31Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+518T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.128T>C
  hgvsp: ENSP00000301407.6:p.Val43Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+341T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19976
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val43Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-49539443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539443
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539443
    reference: chr 19
allele count: 2
allele frequency: 1.873536299765808e-5
allele num: 106750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.127G>A
  hgvsp: ENSP00000375742.3:p.Val43Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+517G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.91G>A
  hgvsp: ENSP00000472896.2:p.Val31Met
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+340G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.127G>A
  hgvsp: ENSP00000301407.6:p.Val43Met
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val43Met
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

19-49539444-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539444
    reference: chr 19
allele count: 1
allele frequency: 9.344746383583149e-6
allele num: 107012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.90C>A
  hgvsp: ENST00000601167.1:c.90C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.126C>A
  hgvsp: ENST00000391869.3:c.126C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.126C>A
  hgvsp: ENST00000301407.7:c.126C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+339C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+516C>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro42Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-49539446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539446
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539446
    reference: chr 19
allele count: 8
allele frequency: 7.461155359907482e-5
allele num: 107222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+337C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.124C>G
  hgvsp: ENSP00000375742.3:p.Pro42Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.124C>G
  hgvsp: ENSP00000301407.6:p.Pro42Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.88C>G
  hgvsp: ENSP00000472896.2:p.Pro30Ala
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+514C>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21626
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro42Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-49539450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49539450
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49539450
    reference: chr 19
allele count: 5
allele frequency: 4.659311167437006e-5
allele num: 107312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000466140
  ensembl transcript: ENST00000591656
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000591656.1:c.-28+333C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000375742
  ensembl transcript: ENST00000391869
  gene symbol: CGB1
  hgvsc: ENST00000391869.3:c.120C>T
  hgvsp: ENST00000391869.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000301407
  ensembl transcript: ENST00000301407
  gene symbol: CGB1
  hgvsc: ENST00000301407.7:c.120C>T
  hgvsp: ENST00000301407.7:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000267335
  ensembl protein: ENSP00000474022
  ensembl transcript: ENST00000604577
  gene symbol: CTB-60B18.6
  hgvsc: ENST00000604577.1:c.9+510C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000267631
  ensembl protein: ENSP00000472896
  ensembl transcript: ENST00000601167
  gene symbol: CGB1
  hgvsc: ENST00000601167.1:c.84C>T
  hgvsp: ENST00000601167.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16721
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly40Gly
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.105529119467722e-5
allele num: 47494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

DP
type: SiteQuality
SIO_000300: 1.029925e6

QD
type: SiteQuality
SIO_000300: 1.45e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.626e0

MQ
type: SiteQuality
SIO_000300: 3.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.819028222286878e-4
allele num: 13748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 9.711880867594691e-4
allele num: 6178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.024e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.83e0

VQSLOD
type: SiteQuality
SIO_000300: -4.142e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

DP
type: SiteQuality
SIO_000300: 1.026879e6

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.106771162516327e-5
allele num: 47466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13748
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.142e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

MQ
type: SiteQuality
SIO_000300: 3.024e1

QD
type: SiteQuality
SIO_000300: 9.83e0

DP
type: SiteQuality
SIO_000300: 1.026879e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.523595619038005e-5
allele num: 39626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: -5.557e0

DP
type: SiteQuality
SIO_000300: 8.23246e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 2.956e1

GenotypeQuality
all individuals: 1999
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2261
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 12472
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 311
bin: 9.75e1
variant carriers: 299

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

African
type: Population
allele count: 330
allele frequency: 6.795716639209226e-2
allele num: 4856
num of homozygotes: 15

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12152
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

Latino
type: Population
allele count: 16
allele frequency: 2.551020408163265e-3
allele num: 6272
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.831501831501832e-3
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.526783909440065e-5
allele num: 39576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 8.2184e5

VQSLOD
type: SiteQuality
SIO_000300: -3.4e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.541554414680018e-5
allele num: 39346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12128
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.845018450184502e-3
allele num: 542
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.16205e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.01e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

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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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.541554414680018e-5
allele num: 39346
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4694
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -3.802e0

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.01e1

DP
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.735678721890901e-5
allele num: 36554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3526
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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 506
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.052e1

QD
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SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 7.49768e5

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.735678721890901e-5
allele num: 36554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 3.052e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.49768e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.984e0

GenotypeQuality
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variant carriers: 1

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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bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.565295169946333e-3
allele num: 4472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31496
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
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QD
type: SiteQuality
SIO_000300: 1.515e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 3.02e1

DP
type: SiteQuality
SIO_000300: 6.52749e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.680965147453083e-4
allele num: 3730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.723e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.02e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 31496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.02e1

GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 3320
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2602
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
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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 count: 1
allele frequency: 3.562014675500463e-5
allele num: 28074
num of homozygotes: 0

South Asian
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East Asian
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MQ
type: SiteQuality
SIO_000300: 2.992e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27656
num of homozygotes: 0

Latino
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allele frequency: 2.804262478968031e-4
allele num: 3566
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2568
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
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South Asian
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allele frequency: 1.540041067761807e-3
allele num: 9740
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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FS
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 2612
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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Latino
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.179e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2340
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 3.48605577689243e-3
allele num: 2008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.95e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 3.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

DP
type: SiteQuality
SIO_000300: 4.60953e5

VQSLOD
type: SiteQuality
SIO_000300: -4.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
all individuals: 1401
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 3.090234857849196e-3
allele num: 1618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 4.849660523763337e-3
allele num: 2062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 3.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.31441e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeQuality
all individuals: 1804
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 2.007e1

DP
type: SiteQuality
SIO_000300: 4.14739e5

VQSLOD
type: SiteQuality
SIO_000300: -4.857e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 3.028e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 1506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.3003300330033e-4
allele num: 6060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.943e1

DP
type: SiteQuality
SIO_000300: 3.90497e5

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 3.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 3.083e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13490
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.681614349775785e-3
allele num: 1784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 3.90497e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

QD
type: SiteQuality
SIO_000300: 3.88e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 3.083e0

MQ
type: SiteQuality
SIO_000300: 2.943e1

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.077544426494346e-5
allele num: 12380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.07e0

MQ
type: SiteQuality
SIO_000300: 3.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 3.74221e5

GenotypeQuality
all individuals: 37
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.07e0

DP
type: SiteQuality
SIO_000300: 3.74221e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.96e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 3.058e1

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

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

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.329113924050633e-3
allele num: 158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.445086705202312e-3
allele num: 692
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 3.17288e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 3.174e0

MQ
type: SiteQuality
SIO_000300: 2.9e1

VQSLOD
type: SiteQuality
SIO_000300: -5.36e0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 537
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.0e-2
allele num: 1100
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.19e-2

DP
type: SiteQuality
SIO_000300: 2.97583e5

VQSLOD
type: SiteQuality
SIO_000300: -3.714e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.063e1

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 21
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.915708812260536e-3
allele num: 522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.021e0

DP
type: SiteQuality
SIO_000300: 2.77661e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

QD
type: SiteQuality
SIO_000300: 2.44e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.63e-2

MQ
type: SiteQuality
SIO_000300: 2.977e1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.69e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.819e0

DP
type: SiteQuality
SIO_000300: 2.71833e5

MQ
type: SiteQuality
SIO_000300: 2.9e1

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
all individuals: 1747
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.2531328320802e-3
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.09981401115933e-4
allele num: 3226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.110152075626798e-4
allele num: 4866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.025125628140704e-3
allele num: 398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -3.666e0

QD
type: SiteQuality
SIO_000300: 1.064e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.87e-2

DP
type: SiteQuality
SIO_000300: 2.55104e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 3.03e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.203e0

DP
type: SiteQuality
SIO_000300: 2.21327e5

QD
type: SiteQuality
SIO_000300: 1.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.808e0

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8248
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.008064516129032e-2
allele num: 496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.0e-3
allele num: 250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 3.09e1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.908e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.86198e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 218
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 6.75e1
variant carriers: 3

Latino
type: Population
allele count: 2
allele frequency: 8.849557522123894e-3
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 1.027397260273973e-2
allele num: 2044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.755395683453238e-3
allele num: 1390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.294e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 4.333e0

DP
type: SiteQuality
SIO_000300: 1.78711e5

MQ
type: SiteQuality
SIO_000300: 3.053e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.107e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.119999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7627
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.484304932735426e-3
allele num: 446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.964e0

QD
type: SiteQuality
SIO_000300: 1.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.039e1

DP
type: SiteQuality
SIO_000300: 1.77778e5

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1222
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.819e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 1.43378e5

GenotypeQuality
all individuals: 120
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.105590062111801e-3
allele num: 322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.383e1

VQSLOD
type: SiteQuality
SIO_000300: -1.593e0

QD
type: SiteQuality
SIO_000300: 7.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.3214e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.429999999999999e-2

GenotypeQuality
all individuals: 360
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 618
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 35
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 5
bin: 7.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.19047619047619e-2
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.923076923076923e-2
allele num: 156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 1.333333333333333e-2
allele num: 300
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.9e1

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 8.6594e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.459e0

GenotypeQuality
all individuals: 1137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.083333333333333e-2
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 3.191e1

VQSLOD
type: SiteQuality
SIO_000300: -1.951e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.8397e4

GenotypeQuality
all individuals: 1967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 4866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.867901972504483e-5
allele num: 53536
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.858e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.528e0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 3.33e1

QD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.08423e6

VQSLOD
type: SiteQuality
SIO_000300: -5.449e0

GenotypeQuality
all individuals: 4878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4785
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
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variant carriers: 1

GenotypeQuality
all individuals: 1578
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.2e1

DP
type: SiteQuality
SIO_000300: 1.086446e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 8.59e0

GenotypeQuality
all individuals: 5210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19331
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.853430700226118e-5
allele num: 53954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.643635397289396e-5
allele num: 15052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.151608e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 4.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 1.936e0

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 6.48e0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 9.25e1
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GenotypeQuality
all individuals: 396
bin: 5.25e1
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GenotypeQuality
all individuals: 1748
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.848497171799327e-5
allele num: 54098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.359e1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

DP
type: SiteQuality
SIO_000300: 1.179033e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.3e0

GenotypeQuality
all individuals: 465
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.848497171799327e-5
allele num: 54098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15082
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.179033e6

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 4.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
all individuals: 1467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26295
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.432254368375824e-4
allele num: 6982
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.599e0

QD
type: SiteQuality
SIO_000300: 4.4e0

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

MQ
type: SiteQuality
SIO_000300: 3.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: -5.872e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.252196e6

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26578
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1825
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.71342383107089e-4
allele num: 10608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.170060400014467e-4
allele num: 55298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.240694789081886e-3
allele num: 15314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

FS
type: SiteQuality
SIO_000300: 7.323e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

QD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -3.722e0

MQ
type: SiteQuality
SIO_000300: 3.654e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
SIO_000300: 1.263308e6

GenotypeQuality
all individuals: 4893
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.261034047919294e-4
allele num: 7930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
SIO_000300: 2.884e0

QD
type: SiteQuality
SIO_000300: 6.16e0

VQSLOD
type: SiteQuality
SIO_000300: -2.016e0

DP
type: SiteQuality
SIO_000300: 1.285671e6

MQ
type: SiteQuality
SIO_000300: 4.547e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
all individuals: 432
bin: 3.75e1
variant carriers: 72

GenotypeQuality
all individuals: 2490
bin: 7.25e1
variant carriers: 116

GenotypeQuality
all individuals: 2888
bin: 7.75e1
variant carriers: 140

GenotypeQuality
all individuals: 6310
bin: 6.75e1
variant carriers: 131

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 88

Latino
type: Population
allele count: 261
allele frequency: 2.451164537941397e-2
allele num: 10648
num of homozygotes: 1

South Asian
type: Population
allele count: 422
allele frequency: 2.700627159861769e-2
allele num: 15626
num of homozygotes: 0

African
type: Population
allele count: 367
allele frequency: 4.970205850487541e-2
allele num: 7384
num of homozygotes: 0

Other
type: Population
allele count: 40
allele frequency: 5.555555555555555e-2
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 354
allele frequency: 7.769973661106233e-2
allele num: 4556
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3159
allele frequency: 5.683494656543486e-2
allele num: 55582
num of homozygotes: 4

East Asian
type: Population
allele count: 69
allele frequency: 8.635794743429287e-3
allele num: 7990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.886e0

DP
type: SiteQuality
SIO_000300: 1.402396e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

MQ
type: SiteQuality
SIO_000300: 3.572e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 7.7997e1

VQSLOD
type: SiteQuality
SIO_000300: -3.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 1135
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2490
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 890
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6310
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 984
bin: 8.75e1
variant carriers: 7

Latino
type: Population
allele count: 15
allele frequency: 1.408715251690458e-3
allele num: 10648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 59
allele frequency: 1.06149472850923e-3
allele num: 55582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.388888888888889e-3
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 79
allele frequency: 9.887359198998748e-3
allele num: 7990
num of homozygotes: 0

African
type: Population
allele count: 187
allele frequency: 2.532502708559047e-2
allele num: 7384
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.097453906935909e-3
allele num: 4556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.402396e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.121e1

FS
type: SiteQuality
SIO_000300: 7.7997e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.886e0

QD
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 3.572e1

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 3.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.345e0

QD
type: SiteQuality
SIO_000300: 7.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.377653e6

GenotypeQuality
all individuals: 407
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.223390518354546e-5
allele num: 10842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.345e0

MQ
type: SiteQuality
SIO_000300: 3.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 7.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 1.377653e6

GenotypeQuality
all individuals: 1315
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 4079
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 27180
bin: 6.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2818
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 4024
bin: 9.75e1
variant carriers: 367

Other
type: Population
allele count: 1
allele frequency: 1.347708894878706e-3
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.745688150268836e-5
allele num: 57284
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.241310824230387e-4
allele num: 8056
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.950396459524249e-3
allele num: 10846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.346788525006347e-5
allele num: 15756
num of homozygotes: 0

African
type: Population
allele count: 481
allele frequency: 6.323954772547988e-2
allele num: 7606
num of homozygotes: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.636e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.035e0

MQ
type: SiteQuality
SIO_000300: 3.716e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.71e0

DP
type: SiteQuality
SIO_000300: 1.386518e6

GenotypeQuality
all individuals: 825
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2864
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.324310650139134e-5
allele num: 15812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

DP
type: SiteQuality
SIO_000300: 1.388175e6

QD
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 3.214e0

MQ
type: SiteQuality
SIO_000300: 3.828e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.324310650139134e-5
allele num: 15812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.484077764615706e-5
allele num: 57404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.388175e6

FS
type: SiteQuality
SIO_000300: 3.214e0

MQ
type: SiteQuality
SIO_000300: 3.828e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

QD
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.240387000744232e-4
allele num: 8062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.828e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

QD
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

FS
type: SiteQuality
SIO_000300: 3.214e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 1.388175e6

GenotypeQuality
all individuals: 3673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.314725940894166e-5
allele num: 15836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.335e0

DP
type: SiteQuality
SIO_000300: 1.391498e6

FS
type: SiteQuality
SIO_000300: 1.738e0

QD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 3.576e1

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3674
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57772
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.233654083395016e-4
allele num: 8106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.498e0

MQ
type: SiteQuality
SIO_000300: 3.42e1

FS
type: SiteQuality
SIO_000300: 6.081e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

DP
type: SiteQuality
SIO_000300: 1.396218e6

QD
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

GenotypeQuality
all individuals: 3675
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3341
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 7.307270734380709e-4
allele num: 10948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.461285521442664e-5
allele num: 57782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.546e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

DP
type: SiteQuality
SIO_000300: 1.397583e6

VQSLOD
type: SiteQuality
SIO_000300: -3.257e0

QD
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 783
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.283697047496791e-4
allele num: 7790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.397583e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.546e1

QD
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1309
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.274312962730582e-5
allele num: 15938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.566e0

MQ
type: SiteQuality
SIO_000300: 4.102e1

DP
type: SiteQuality
SIO_000300: 1.402601e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.161e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.110787172011662e-5
allele num: 10976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.403513e6

QD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

MQ
type: SiteQuality
SIO_000300: 3.459e1

FS
type: SiteQuality
SIO_000300: 1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.52e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.275835672365399e-4
allele num: 7838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 3.542e0

DP
type: SiteQuality
SIO_000300: 1.404982e6

VQSLOD
type: SiteQuality
SIO_000300: -2.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 3.856e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 6.78e0

GenotypeQuality
all individuals: 7285
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 917
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 14

GenotypeQuality
all individuals: 3988
bin: 9.75e1
variant carriers: 333

GenotypeQuality
all individuals: 26179
bin: 6.25e1
variant carriers: 13

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

South Asian
type: Population
allele count: 478
allele frequency: 3.000627746390458e-2
allele num: 15930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58240
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.31578947368421e-3
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.551247041689423e-4
allele num: 10986
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.629e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.414486e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.388e0

VQSLOD
type: SiteQuality
SIO_000300: -3.194e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
all individuals: 2083
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7436
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.236746912810279e-5
allele num: 16034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.844e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.113e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.357e0

DP
type: SiteQuality
SIO_000300: 1.420768e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.248e0

MQ
type: SiteQuality
SIO_000300: 3.585e1

GenotypeQuality
all individuals: 2929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4854
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.812e1

VQSLOD
type: SiteQuality
SIO_000300: -3.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

FS
type: SiteQuality
SIO_000300: 4.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

QD
type: SiteQuality
SIO_000300: 1.356e1

DP
type: SiteQuality
SIO_000300: 1.425326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58836
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.077705156136529e-5
allele num: 11016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 3.306e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.42434e6

FS
type: SiteQuality
SIO_000300: 4.505e0

QD
type: SiteQuality
SIO_000300: 8.3e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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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
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

South Asian
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allele frequency: 6.224324660774306e-5
allele num: 16066
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58884
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.425e1

DP
type: SiteQuality
SIO_000300: 1.42569e6

QD
type: SiteQuality
SIO_000300: 1.002e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.413e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699581902851899e-5
allele num: 58838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.512e1

FS
type: SiteQuality
SIO_000300: 1.9931e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

DP
type: SiteQuality
SIO_000300: 1.425155e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.4e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699293094072866e-5
allele num: 58848
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.633e0

QD
type: SiteQuality
SIO_000300: 4.41e0

VQSLOD
type: SiteQuality
SIO_000300: -3.792e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 3.331e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

DP
type: SiteQuality
SIO_000300: 1.422207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58924
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3067e1

MQRankSum
type: SiteQuality
SIO_000300: -3.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 4.58e0

DP
type: SiteQuality
SIO_000300: 1.422832e6

MQ
type: SiteQuality
SIO_000300: 3.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

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: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.69284940411701e-5
allele num: 59072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 4.993e0

VQSLOD
type: SiteQuality
SIO_000300: -4.386e0

MQ
type: SiteQuality
SIO_000300: 3.334e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 1.426311e6

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1313
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GenotypeQuality
all individuals: 1100
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variant carriers: 0

African
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allele count: 3
allele frequency: 3.665689149560117e-4
allele num: 8184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.536e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

DP
type: SiteQuality
SIO_000300: 1.409732e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 3.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

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: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724316308583647e-5
allele num: 57994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.386266e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5650
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.453634950785702e-5
allele num: 57910
num of homozygotes: 0

African
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allele frequency: 0.0e0
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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
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.319e1

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
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BaseQRankSum
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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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.723068440278448e-5
allele num: 58036
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European (Finnish)
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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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Latino
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allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.069e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.028e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.38356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-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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variant carriers: 0

African
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allele frequency: 1.222493887530562e-4
allele num: 8180
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.799342741156003e-4
allele num: 10346
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South Asian
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Other
type: Population
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allele frequency: 1.295336787564767e-3
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58162
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8190
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5706
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.221e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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