12-53242544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242544
    reference: chr 12
allele count: 1
allele frequency: 8.821453775582216e-6
allele num: 113360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.171G>A
  hgvsp: ENST00000304620.4:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-139G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly57Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5988
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-53242545-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242545
    reference: chr 12
allele count: 1
allele frequency: 8.81010695469843e-6
allele num: 113506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-140G>C
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.170G>C
  hgvsp: ENSP00000306261.4:p.Gly57Ala
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15384
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly57Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6008
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

12-53242546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242546
    reference: chr 12
allele count: 1
allele frequency: 8.81414493979939e-6
allele num: 113454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.169G>A
  hgvsp: ENSP00000306261.4:p.Gly57Arg
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-141G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly57Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8330
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-53242547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242547
    reference: chr 12
allele count: 1
allele frequency: 8.807934187115753e-6
allele num: 113534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.168G>A
  hgvsp: ENSP00000306261.4:p.Trp56Ter
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-142G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp56Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15760
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

12-53242551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242551
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 113620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.164C>T
  hgvsp: ENSP00000306261.4:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-146C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr55Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9610
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

12-53242552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242552
    reference: chr 12
allele count: 1
allele frequency: 8.832049742104147e-6
allele num: 113224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-147A>G
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.163A>G
  hgvsp: ENSP00000306261.4:p.Thr55Ala
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr55Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61754
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

12-53242556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242556
    reference: chr 12
allele count: 1
allele frequency: 8.774084862948794e-6
allele num: 113972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-151G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.159G>A
  hgvsp: ENST00000304620.4:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18913
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27000
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly53Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6030
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-53242560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242560
    reference: chr 12
allele count: 91
allele frequency: 7.971966710468682e-4
allele num: 114150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.155G>A
  hgvsp: ENSP00000306261.4:p.Arg52His
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-155G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 18
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20377
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1271
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Arg52His
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9618
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-53242561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242561
    reference: chr 12
allele count: 2
allele frequency: 1.754693805930865e-5
allele num: 113980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-156C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.154C>T
  hgvsp: ENSP00000306261.4:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31001
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg52Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9608
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53242566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242566
    reference: chr 12
allele count: 1
allele frequency: 8.720372534314665e-6
allele num: 114674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.149G>T
  hgvsp: ENSP00000306261.4:p.Gly50Val
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-161G>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 278
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 500
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly50Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6074
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-53242573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242573
    reference: chr 12
allele count: 1
allele frequency: 8.701251239928301e-6
allele num: 114926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-168C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.142C>T
  hgvsp: ENST00000304620.4:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 436
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genotype depth: GenotypeDepth
  all individuals: 1161
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu48Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6110
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/12-53242576-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242577
    reference: chr 12
allele count: 1
allele frequency: 8.710194411539265e-6
allele num: 114808
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.138dupG
  hgvsp: ENSP00000306261.4:p.Cys47ValfsTer15
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-172dupG
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 674
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hgvs: p.Cys47ValfsTer15
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6092
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-53242576-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242575
    reference: chr 12
allele count: 3
allele frequency: 2.61305832346178e-5
allele num: 114808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.138delG
  hgvsp: ENSP00000306261.4:p.Cys47AlafsTer40
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-172delG
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys47AlafsTer40
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11240
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: AC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-53242579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242579
    reference: chr 12
allele count: 11307
allele frequency: 9.80064141457918e-2
allele num: 115370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-174G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.136G>A
  hgvsp: ENSP00000306261.4:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 23034
  bin: 2.25e1
  variant carriers: 1737
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 853
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2093
genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 519
genotype depth: GenotypeDepth
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  variant carriers: 458
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1330
genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1853
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.75e1
  variant carriers: 1081
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 4605
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 10320
  bin: 9.75e1
  variant carriers: 10052
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 69
hgvs: p.Gly46Arg
num of homozygotes: 680
population: African
  type: Population
  allele count: 771
  allele frequency: 7.9764121663563e-2
  allele num: 9666
  num of homozygotes: 36
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-53242581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242581
    reference: chr 12
allele count: 1
allele frequency: 8.653962649497205e-6
allele num: 115554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-176G>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.134G>T
  hgvsp: ENSP00000306261.4:p.Gly45Val
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly45Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11290
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-53242581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242581
    reference: chr 12
allele count: 1
allele frequency: 8.653962649497205e-6
allele num: 115554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-176G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.134G>A
  hgvsp: ENSP00000306261.4:p.Gly45Glu
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37733
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly45Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9650
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53242582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242582
    reference: chr 12
allele count: 1
allele frequency: 8.660258075690655e-6
allele num: 115470
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.133G>A
  hgvsp: ENSP00000306261.4:p.Gly45Arg
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-177G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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  bin: 3.75e1
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gly45Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9626
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

12-53242595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242595
    reference: chr 12
allele count: 139
allele frequency: 1.202775902947234e-3
allele num: 115566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-190C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.120C>T
  hgvsp: ENST00000304620.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24388
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19764
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser40Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 34
  allele frequency: 4.011326097215668e-3
  allele num: 8476
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-53242597-T-TCCTGCTGCTGAAGCCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242615
    reference: chr 12
allele count: 2
allele frequency: 1.729475450095986e-5
allele num: 115642
alternate allele: TCCTGCTGCTGAAGCCGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsp: ENSP00000306261.4:p.Gly34_Arg39dup
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24382
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly34_Arg39dup
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11318
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-53242597-TCCTGCTGCTGAAGCCGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242579
    reference: chr 12
allele count: 559
allele frequency: 4.833883883018281e-3
allele num: 115642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsp: ENSP00000306261.4:p.Gly34_Arg39del
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 3.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19913
  bin: 2.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 24382
  bin: 2.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 541
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Gly34_Arg39del
num of homozygotes: 7
population: East Asian
  type: Population
  allele count: 4
  allele frequency: 4.727014890096904e-4
  allele num: 8462
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TCCTGCTGCTGAAGCCGCC
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-53242598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242598
    reference: chr 12
allele count: 1
allele frequency: 8.727374282173466e-6
allele num: 114582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.117G>A
  hgvsp: ENST00000304620.4:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-193G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg39Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10236
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-53242600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242600
    reference: chr 12
allele count: 3
allele frequency: 2.61926381225117e-5
allele num: 114536
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.115A>G
  hgvsp: ENSP00000306261.4:p.Arg39Gly
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-195A>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg39Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63154
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-53242601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242601
    reference: chr 12
allele count: 1
allele frequency: 8.740494712000699e-6
allele num: 114410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.114C>T
  hgvsp: ENST00000304620.4:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-196C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser38Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9502
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-53242612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242612
    reference: chr 12
allele count: 2
allele frequency: 1.753063478428554e-5
allele num: 114086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-378-207G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.103G>A
  hgvsp: ENSP00000306261.4:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20387
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38029
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 474
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 209
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1016
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly35Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 848
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

12-53242613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242613
    reference: chr 12
allele count: 4
allele frequency: 3.510188321603454e-5
allele num: 113954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+207C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.102C>T
  hgvsp: ENST00000304620.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly34Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 844
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-53242613-G-GCCCCTGCTGCTGAAGCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242631
    reference: chr 12
allele count: 6
allele frequency: 5.265282482405181e-5
allele num: 113954
alternate allele: GCCCCTGCTGCTGAAGCCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsp: ENSP00000306261.4:p.Gly29_Gly34dup
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20468
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly29_Gly34dup
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15998
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

12-53242613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242613
    reference: chr 12
allele count: 1
allele frequency: 8.775470804008634e-6
allele num: 113954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+207C>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.102C>A
  hgvsp: ENST00000304620.4:c.102C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Gly34Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9360
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-53242613-GCCCCTGCTGCTGAAGCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242595
    reference: chr 12
allele count: 1
allele frequency: 8.775470804008634e-6
allele num: 113954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsp: ENSP00000306261.4:p.Gly34_Arg39del
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 565
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly34_Arg39del
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8458
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: GCCCCTGCTGCTGAAGCCT
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-53242620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242620
    reference: chr 12
allele count: 1
allele frequency: 8.695954641900589e-6
allele num: 114996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.95G>A
  hgvsp: ENSP00000306261.4:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+200G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6066
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 980
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 210
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 671
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genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser32Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.06473594548552e-4
  allele num: 9392
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-53242626-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242626
    reference: chr 12
allele count: 1
allele frequency: 8.711560240439062e-6
allele num: 114790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.89T>A
  hgvsp: ENSP00000306261.4:p.Phe30Tyr
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+194T>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe30Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9374
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-53242630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242630
    reference: chr 12
allele count: 1
allele frequency: 8.736523911865946e-6
allele num: 114462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+190G>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.85G>T
  hgvsp: ENSP00000306261.4:p.Gly29Cys
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly29Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9354
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
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site quality: MQ
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site quality: QD

12-53242635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242635
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242635
    reference: chr 12
allele count: 11
allele frequency: 9.647768734212742e-5
allele num: 114016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.80G>A
  hgvsp: ENSP00000306261.4:p.Arg27Lys
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+185G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg27Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 9
  allele frequency: 5.932762030323006e-4
  allele num: 15170
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-53242638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242638
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242638
    reference: chr 12
allele count: 1
allele frequency: 8.791208791208792e-6
allele num: 113750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.77G>A
  hgvsp: ENSP00000306261.4:p.Ser26Asn
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+182G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ser26Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6182
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
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12-53242639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242639
    reference: chr 12
allele count: 1
allele frequency: 8.80467704444601e-6
allele num: 113576
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.76A>G
  hgvsp: ENSP00000306261.4:p.Ser26Gly
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+181A>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35745
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser26Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11292
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-53242640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242640
    reference: chr 12
allele count: 67
allele frequency: 5.895707572904383e-4
allele num: 113642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.75C>T
  hgvsp: ENST00000304620.4:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+180C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20424
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22790
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg25Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.234152652005175e-4
  allele num: 6184
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS

12-53242640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242640
    reference: chr 12
allele count: 138
allele frequency: 1.21433976874747e-3
allele num: 113642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+180C>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.75C>A
  hgvsp: ENST00000304620.4:c.75C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 20424
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 22790
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36293
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Arg25Arg
num of homozygotes: 2
population: Latino
  type: Population
  allele count: 15
  allele frequency: 1.327903682719547e-3
  allele num: 11296
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-53242641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242641
    reference: chr 12
allele count: 6108
allele frequency: 5.383110359050288e-2
allele num: 113466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+179G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.74G>A
  hgvsp: ENSP00000306261.4:p.Arg25His
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21366
  bin: 2.25e1
  variant carriers: 687
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.25e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 620
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 2.75e1
  variant carriers: 841
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 1.75e1
  variant carriers: 459
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.25e1
  variant carriers: 922
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 7.5e0
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 433
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 816
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 6.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 34168
  bin: 6.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 9.75e1
  variant carriers: 5264
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 28
hgvs: p.Arg25His
num of homozygotes: 524
population: European (Non-Finnish)
  type: Population
  allele count: 589
  allele frequency: 9.42852569233232e-3
  allele num: 62470
  num of homozygotes: 2
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-53242642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242642
    reference: chr 12
allele count: 4
allele frequency: 3.539008723656504e-5
allele num: 113026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+178C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.73C>T
  hgvsp: ENSP00000306261.4:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg25Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14630
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-53242645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242645
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242645
    reference: chr 12
allele count: 4
allele frequency: 3.546665248000568e-5
allele num: 112782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.70G>T
  hgvsp: ENSP00000306261.4:p.Gly24Cys
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+175G>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37504
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly24Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62376
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS

12-53242651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242651
    reference: chr 12
allele count: 1
allele frequency: 8.934474563550918e-6
allele num: 111926
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.64T>C
  hgvsp: ENSP00000306261.4:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+169T>C
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser22Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6196
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

12-53242653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242653
    reference: chr 12
allele count: 1
allele frequency: 8.960734063334468e-6
allele num: 111598
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.62G>A
  hgvsp: ENSP00000306261.4:p.Arg21His
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+167G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 246
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 37404
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
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genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 465
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg21His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.61077284881286e-5
  allele num: 62082
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-53242654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242654
    reference: chr 12
allele count: 30
allele frequency: 2.692176534989321e-4
allele num: 111434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.61C>T
  hgvsp: ENSP00000306261.4:p.Arg21Cys
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+166C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20679
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21931
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 37252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 737
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6830
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
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genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 490
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1503
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg21Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8414
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-53242654-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242654
    reference: chr 12
allele count: 2
allele frequency: 1.794784356659547e-5
allele num: 111434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.61C>A
  hgvsp: ENSP00000306261.4:p.Arg21Ser
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+166C>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg21Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6204
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-53242656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242656
    reference: chr 12
allele count: 2
allele frequency: 1.797623541677902e-5
allele num: 111258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+164C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.59C>T
  hgvsp: ENSP00000306261.4:p.Ala20Val
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 203
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala20Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 818
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-53242659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242659
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242659
    reference: chr 12
allele count: 23
allele frequency: 2.075737338002238e-4
allele num: 110804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+161C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.56C>T
  hgvsp: ENSP00000306261.4:p.Ser19Phe
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
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hgvs: p.Ser19Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8410
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

12-53242671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242671
    reference: chr 12
allele count: 76
allele frequency: 6.973628672624837e-4
allele num: 108982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.44G>A
  hgvsp: ENSP00000306261.4:p.Arg15His
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+149G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20310
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36575
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  variant carriers: 0
hgvs: p.Arg15His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.139345596614032e-5
  allele num: 12286
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-53242672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242672
    reference: chr 12
allele count: 1
allele frequency: 9.171955827860732e-6
allele num: 109028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.43C>T
  hgvsp: ENSP00000306261.4:p.Arg15Cys
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+148C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg15Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61310
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

12-53242675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242675
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242675
    reference: chr 12
allele count: 16
allele frequency: 1.473649308305856e-4
allele num: 108574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+145G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.40G>A
  hgvsp: ENSP00000306261.4:p.Ala14Thr
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20286
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21732
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala14Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11224
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-53242676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242676
    reference: chr 12
allele count: 4
allele frequency: 3.682291858452701e-5
allele num: 108628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+144C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.39C>T
  hgvsp: ENST00000304620.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7275
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1200
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5475
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genotype quality: GenotypeQuality
  all individuals: 283
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser13Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.259445843828715e-3
  allele num: 794
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53242681-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242681
    reference: chr 12
allele count: 1
allele frequency: 9.230030828302967e-6
allele num: 108342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+139T>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.34T>A
  hgvsp: ENSP00000306261.4:p.Phe12Ile
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21952
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
hgvs: p.Phe12Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8802
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-53242685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242685
    reference: chr 12
allele count: 114
allele frequency: 1.059499247197903e-3
allele num: 107598
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.30G>A
  hgvsp: ENST00000304620.4:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+135G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21801
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  variant carriers: 16
genotype depth: GenotypeDepth
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  variant carriers: 17
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37318
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 112
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg10Arg
num of homozygotes: 2
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.732099196646873e-5
  allele num: 11452
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-53242689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242689
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242689
    reference: chr 12
allele count: 2
allele frequency: 1.866159071399246e-5
allele num: 107172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.26A>G
  hgvsp: ENSP00000306261.4:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+131A>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln9Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.288067602669911e-5
  allele num: 60826
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

12-53242690-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242690
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242690
    reference: chr 12
allele count: 2
allele frequency: 1.866960401769878e-5
allele num: 107126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+130C>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.25C>A
  hgvsp: ENSP00000306261.4:p.Gln9Lys
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20472
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln9Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11194
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-53242693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242693
    reference: chr 12
allele count: 2
allele frequency: 1.877757956999343e-5
allele num: 106510
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.22G>A
  hgvsp: ENSP00000306261.4:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+127G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20409
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5382
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala8Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11200
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

12-53242695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242695
    reference: chr 12
allele count: 321
allele frequency: 3.023965634184942e-3
allele num: 106152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+125G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.20G>A
  hgvsp: ENSP00000306261.4:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20381
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 21537
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.75e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 3
hgvs: p.Arg7Gln
num of homozygotes: 5
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 766
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-53242696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242696
    reference: chr 12
allele count: 15
allele frequency: 1.417180000755829e-4
allele num: 105844
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.19C>T
  hgvsp: ENSP00000306261.4:p.Arg7Trp
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+124C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21464
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg7Trp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 11
  allele frequency: 1.819926541146885e-4
  allele num: 60442
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-53242708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242708
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242708
    reference: chr 12
allele count: 1
allele frequency: 9.557488292076842e-6
allele num: 104630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.7C>G
  hgvsp: ENSP00000306261.4:p.Leu3Val
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+112C>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
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genotype quality: GenotypeQuality
  all individuals: 7391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 365
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genotype quality: GenotypeQuality
  all individuals: 1295
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genotype quality: GenotypeQuality
  all individuals: 37065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu3Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 738
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-53242710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242710
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242710
    reference: chr 12
allele count: 1
allele frequency: 9.588279287399084e-6
allele num: 104294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+110C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.5C>T
  hgvsp: ENSP00000306261.4:p.Ser2Phe
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1051
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36289
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser2Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 59916
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-53242730-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242730
    reference: chr 12
allele count: 1
allele frequency: 9.838259021683523e-6
allele num: 101644
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-16A>C
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+90A>C
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 7752
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 364
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genotype quality: GenotypeQuality
  all individuals: 436
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 471
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genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5938
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53242734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242734
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242734
    reference: chr 12
allele count: 1
allele frequency: 9.904520423121112e-6
allele num: 100964
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-20C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+86C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 58558
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-53242740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242740
    reference: chr 12
allele count: 5
allele frequency: 4.984051036682616e-5
allele num: 100320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-26C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+80C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8476
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

12-53242743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242743
    reference: chr 12
allele count: 2
allele frequency: 2.001040541081362e-5
allele num: 99948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+77C>G
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-29C>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7990
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53242745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242745
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242745
    reference: chr 12
allele count: 1
allele frequency: 1.003592862447562e-5
allele num: 99642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-31G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+75G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 126
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 690
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-53242746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242746
    reference: chr 12
allele count: 7
allele frequency: 7.043529009277334e-5
allele num: 99382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-32C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+74C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9077
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 585
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7982
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-53242757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242757
    reference: chr 12
allele count: 1
allele frequency: 1.01721121373642e-5
allele num: 98308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-43A>G
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+63A>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8110
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53242761-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242761
    reference: chr 12
allele count: 3
allele frequency: 3.076481325758353e-5
allele num: 97514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+59G>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-47G>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5652
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-53242761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242761
    reference: chr 12
allele count: 1
allele frequency: 1.025493775252784e-5
allele num: 97514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+59G>A
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-47G>A
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7778
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-53242763-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242763
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242763
    reference: chr 12
allele count: 1
allele frequency: 1.028341080169471e-5
allele num: 97244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-49T>G
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+57T>G
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 9069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5648
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-53242765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53242765
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53242765
    reference: chr 12
allele count: 1
allele frequency: 1.02942084783101e-5
allele num: 97142
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000306261
  ensembl transcript: ENST00000304620
  gene symbol: KRT78
  hgvsc: ENST00000304620.4:c.-51C>T
  variant of: http://identifiers.org/hgnc/28926
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170423
  ensembl protein: ENSP00000447817
  ensembl transcript: ENST00000547110
  gene symbol: KRT78
  hgvsc: ENST00000547110.1:c.-379+55C>T
  variant of: http://identifiers.org/hgnc/28926
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6832
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8022
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-53290961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53290961
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53290961
    reference: chr 12
allele count: 3
allele frequency: 1.675977653631285e-3
allele num: 1790
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 7.653061224489796e-3
  allele num: 392
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 18
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 102
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 150
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-53290975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53290975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53290975
    reference: chr 12
allele count: 5
allele frequency: 2.485089463220676e-3
allele num: 2012
alternate allele: C
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23112
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20147
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 264
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 108
  num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 1.237623762376238e-2
  allele num: 404
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-53290990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53290990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53290990
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000293308
  ensembl transcript: ENST00000293308
  gene symbol: KRT8
  hgvsc: ENST00000293308.6:c.*222C>T
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000447566
  ensembl transcript: ENST00000552551
  gene symbol: KRT8
  hgvsc: ENST00000552551.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/6446
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1348
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-53290999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53290999
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53290999
    reference: chr 12
allele count: 41
allele frequency: 1.091005854177754e-2
allele num: 3758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000447566
  ensembl transcript: ENST00000552551
  gene symbol: KRT8
  hgvsc: ENST00000552551.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000293308
  ensembl transcript: ENST00000293308
  gene symbol: KRT8
  hgvsc: ENST00000293308.6:c.*213A>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000546583
  gene symbol: KRT8
  hgvsc: ENST00000546583.1:n.2855A>G
  variant of: http://identifiers.org/hgnc/6446
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25114
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22273
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 6.25e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-53291007-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53291007
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53291008
    reference: chr 12
allele count: 345
allele frequency: 8.765243902439024e-2
allele num: 3936
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000546583
  gene symbol: KRT8
  hgvsc: ENST00000546583.1:n.2846dupT
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000447566
  ensembl transcript: ENST00000552551
  gene symbol: KRT8
  hgvsc: ENST00000552551.1:c.*204dupT
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000293308
  ensembl transcript: ENST00000293308
  gene symbol: KRT8
  hgvsc: ENST00000293308.6:c.*204dupT
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000550170
  gene symbol: KRT8
  hgvsc: ENST00000550170.1:n.2194dupT
  variant of: http://identifiers.org/hgnc/6446
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23752
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 7.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 13776
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 16955
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 36
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53291007-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53291007
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53291006
    reference: chr 12
allele count: 1090
allele frequency: 2.769308943089431e-1
allele num: 3936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000550170
  gene symbol: KRT8
  hgvsc: ENST00000550170.1:n.2194delT
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000546583
  gene symbol: KRT8
  hgvsc: ENST00000546583.1:n.2846delT
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000447566
  ensembl transcript: ENST00000552551
  gene symbol: KRT8
  hgvsc: ENST00000552551.1:c.*204delT
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000293308
  ensembl transcript: ENST00000293308
  gene symbol: KRT8
  hgvsc: ENST00000293308.6:c.*204delT
  variant of: http://identifiers.org/hgnc/6446
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 23752
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 7.5e0
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.25e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 13776
  bin: 2.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 6.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 16955
  bin: 7.5e0
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 13
num of homozygotes: 1
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: CA
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53291008-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53291008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53291008
    reference: chr 12
allele count: 1
allele frequency: 1.577287066246057e-3
allele num: 634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000293308
  ensembl transcript: ENST00000293308
  gene symbol: KRT8
  hgvsc: ENST00000293308.6:c.*204T>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000447566
  ensembl transcript: ENST00000552551
  gene symbol: KRT8
  hgvsc: ENST00000552551.1:c.*204T>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000550170
  gene symbol: KRT8
  hgvsc: ENST00000550170.1:n.2194T>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000546583
  gene symbol: KRT8
  hgvsc: ENST00000546583.1:n.2846T>G
  variant of: http://identifiers.org/hgnc/6446
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14912
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-53291040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53291040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53291040
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 13860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000293308
  ensembl transcript: ENST00000293308
  gene symbol: KRT8
  hgvsc: ENST00000293308.6:c.*172A>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170421
  ensembl protein: ENSP00000447566
  ensembl transcript: ENST00000552551
  gene symbol: KRT8
  hgvsc: ENST00000552551.1:c.*172A>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000550170
  gene symbol: KRT8
  hgvsc: ENST00000550170.1:n.2162A>G
  variant of: http://identifiers.org/hgnc/6446
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170421
  ensembl transcript: ENST00000546583
  gene symbol: KRT8
  hgvsc: ENST00000546583.1:n.2814A>G
  variant of: http://identifiers.org/hgnc/6446
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16747
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS

Latino
type: Population
allele count: 1
allele frequency: 9.020386072523904e-5
allele num: 11086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61804
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.639e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.293489e6

QD
type: SiteQuality
SIO_000300: 1.724e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.836e1

VQSLOD
type: SiteQuality
SIO_000300: -2.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.201056930098487e-4
allele num: 8326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

FS
type: SiteQuality
SIO_000300: 1.569e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.297884e6

QD
type: SiteQuality
SIO_000300: 8.4e0

South Asian
type: Population
allele count: 1
allele frequency: 6.348400203148806e-5
allele num: 15752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 3.009e1

FS
type: SiteQuality
SIO_000300: 2.0053e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

VQSLOD
type: SiteQuality
SIO_000300: -2.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

DP
type: SiteQuality
SIO_000300: 1.296136e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.665001665001665e-4
allele num: 6006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

DP
type: SiteQuality
SIO_000300: 1.298263e6

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

QD
type: SiteQuality
SIO_000300: 1.735e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.015e1

QD
type: SiteQuality
SIO_000300: 7.94e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.303891e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.350012700025399e-5
allele num: 15748
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 3.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.891e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.306441e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609424791579489e-5
allele num: 62134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.329e0

VQSLOD
type: SiteQuality
SIO_000300: -1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

DP
type: SiteQuality
SIO_000300: 1.320126e6

MQRankSum
type: SiteQuality
SIO_000300: -1.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.088e0

QD
type: SiteQuality
SIO_000300: 1.393e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 8.215962441314555e-3
allele num: 852
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 52
allele frequency: 8.603573792190603e-3
allele num: 6044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.14105777263672e-4
allele num: 62244
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.335124e6

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.795654516071108e-4
allele num: 11138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 1.342855e6

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 5.124e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5992835209826e-5
allele num: 62528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.361505e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595557966620927e-5
allele num: 62674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.014e1

VQSLOD
type: SiteQuality
SIO_000300: -4.561e-1

FS
type: SiteQuality
SIO_000300: 2.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.652e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.381796e6

MQRankSum
type: SiteQuality
SIO_000300: -1.398e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596729897170594e-5
allele num: 62628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

DP
type: SiteQuality
SIO_000300: 1.39138e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.548e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 7.67e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.569728700618753e-4
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.39138e6

FS
type: SiteQuality
SIO_000300: 2.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 7.67e0

South Asian
type: Population
allele count: 1093
allele frequency: 6.804881085792554e-2
allele num: 16062
num of homozygotes: 50

East Asian
type: Population
allele count: 1078
allele frequency: 1.278462998102467e-1
allele num: 8432
num of homozygotes: 68

European (Non-Finnish)
type: Population
allele count: 5128
allele frequency: 8.134517766497462e-2
allele num: 63040
num of homozygotes: 204

European (Finnish)
type: Population
allele count: 661
allele frequency: 1.076898012381883e-1
allele num: 6138
num of homozygotes: 39

Latino
type: Population
allele count: 2491
allele frequency: 2.230080572963294e-1
allele num: 11170
num of homozygotes: 277

Other
type: Population
allele count: 85
allele frequency: 9.860788863109049e-2
allele num: 862
num of homozygotes: 6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

FS
type: SiteQuality
SIO_000300: 3.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.78e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.470056e6

QD
type: SiteQuality
SIO_000300: 1.494e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 5.683e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.406133e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 5.29e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585137748470342e-5
allele num: 63086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 5.683e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

DP
type: SiteQuality
SIO_000300: 1.406133e6

QD
type: SiteQuality
SIO_000300: 5.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18595825426945e-4
allele num: 8432
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

DP
type: SiteQuality
SIO_000300: 1.407666e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.3e0

FS
type: SiteQuality
SIO_000300: 5.497e0

QD
type: SiteQuality
SIO_000300: 2.511e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.459143968871595e-3
allele num: 6168
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.4193035177656e-4
allele num: 11314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.204243702692642e-5
allele num: 16118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 85
allele frequency: 1.347281661119036e-3
allele num: 63090
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.191114836546521e-4
allele num: 9544
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.836e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.414057e6

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.201165819174004e-5
allele num: 16126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584133320660267e-5
allele num: 63126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.619e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

QD
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -3.452e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

FS
type: SiteQuality
SIO_000300: 1.188e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

DP
type: SiteQuality
SIO_000300: 1.419001e6

Latino
type: Population
allele count: 545
allele frequency: 4.815338399010426e-2
allele num: 11318
num of homozygotes: 7

African
type: Population
allele count: 5
allele frequency: 5.223568742164647e-4
allele num: 9572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.201165819174004e-5
allele num: 16126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.336533282641067e-5
allele num: 63126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

DP
type: SiteQuality
SIO_000300: 1.419001e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.452e-1

MQ
type: SiteQuality
SIO_000300: 5.619e1

QD
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
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East Asian
type: Population
allele count: 1
allele frequency: 1.180916391119509e-4
allele num: 8468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.109e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.196e0

DP
type: SiteQuality
SIO_000300: 1.403969e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.241773252204148e-4
allele num: 16106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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VQSLOD
type: SiteQuality
SIO_000300: -4.925e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 2.773e0

DP
type: SiteQuality
SIO_000300: 1.404385e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585690726880629e-5
allele num: 63064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.403512e6

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.177528518318452e-5
allele num: 62942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
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MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

DP
type: SiteQuality
SIO_000300: 1.407429e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.361e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

FS
type: SiteQuality
SIO_000300: 1.2052e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.767959313413859e-5
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African
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allele num: 9360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

DP
type: SiteQuality
SIO_000300: 1.408557e6

FS
type: SiteQuality
SIO_000300: 1.853e0

MQ
type: SiteQuality
SIO_000300: 5.848e1

QD
type: SiteQuality
SIO_000300: 4.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.093875620714117e-4
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62920
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.408557e6

MQ
type: SiteQuality
SIO_000300: 5.848e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 4.55e0

FS
type: SiteQuality
SIO_000300: 1.853e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8458
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 844
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VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 1.853e0

QD
type: SiteQuality
SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 1.408557e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589319771137953e-5
allele num: 62920
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.848e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 1.853e0

DP
type: SiteQuality
SIO_000300: 1.408557e6

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

QD
type: SiteQuality
SIO_000300: 4.55e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62972
num of homozygotes: 0

South Asian
type: Population
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

DP
type: SiteQuality
SIO_000300: 1.420385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 1.443e0

VQSLOD
type: SiteQuality
SIO_000300: -1.964e0

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588814744200826e-5
allele num: 62940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.208e1

FS
type: SiteQuality
SIO_000300: 3.828e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

MQRankSum
type: SiteQuality
SIO_000300: -1.082e0

DP
type: SiteQuality
SIO_000300: 1.417558e6

VQSLOD
type: SiteQuality
SIO_000300: -2.101e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.914e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591140529531568e-5
allele num: 62848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.241e0

DP
type: SiteQuality
SIO_000300: 1.412262e6

VQSLOD
type: SiteQuality
SIO_000300: -1.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 7.44e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
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Latino
type: Population
allele count: 1
allele frequency: 8.847991505928154e-5
allele num: 11302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.071122536418166e-4
allele num: 9336
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
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MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.406942e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.104e0

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597393054534999e-5
allele num: 62602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15036
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VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 1.404225e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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South Asian
type: Population
allele count: 1
allele frequency: 6.691648822269808e-5
allele num: 14944
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.400959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 1.871e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.928e0

VQSLOD
type: SiteQuality
SIO_000300: -2.722e-1

QD
type: SiteQuality
SIO_000300: 9.23e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
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European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 7.192174913693901e-4
allele num: 62568
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.554502369668246e-3
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.072961373390558e-4
allele num: 9320
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.41643059490085e-3
allele num: 11296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 14960
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.886e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.196e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

DP
type: SiteQuality
SIO_000300: 1.403084e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.369668246445498e-3
allele num: 844
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
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African
type: Population
allele count: 115
allele frequency: 1.233905579399142e-2
allele num: 9320
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.589566551591868e-5
allele num: 62568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.886e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.403084e6

South Asian
type: Population
allele count: 858
allele frequency: 5.757616427325191e-2
allele num: 14902
num of homozygotes: 29

Other
type: Population
allele count: 31
allele frequency: 3.672985781990521e-2
allele num: 844
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African
type: Population
allele count: 2524
allele frequency: 2.696005127109592e-1
allele num: 9362
num of homozygotes: 318

Latino
type: Population
allele count: 175
allele frequency: 1.551418439716312e-2
allele num: 11280
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 185
allele frequency: 2.996436669906058e-2
allele num: 6174
num of homozygotes: 3

East Asian
type: Population
allele count: 1746
allele frequency: 2.070192079677496e-1
allele num: 8434
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DP
type: SiteQuality
SIO_000300: 1.452203e6

FS
type: SiteQuality
SIO_000300: 1.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.204e-1

QD
type: SiteQuality
SIO_000300: 1.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9224
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.806459882081518e-5
allele num: 62416
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 1.400938e6

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.07785011774484e-4
allele num: 14438
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.613944480309877e-4
allele num: 6196
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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African
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.649e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.398082e6

QD
type: SiteQuality
SIO_000300: 1.222e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 3.686e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608751608751609e-5
allele num: 62160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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East Asian
type: Population
allele count: 0
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allele num: 8432
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.385155e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.784e1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

Latino
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allele num: 11268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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East Asian
type: Population
allele count: 0
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allele num: 8432
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 2.243e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.38565e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -2.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

Latino
type: Population
allele count: 2
allele frequency: 1.773049645390071e-4
allele num: 11280
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.740026304252521e-3
allele num: 9124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.836681391674459e-5
allele num: 62026
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.382498e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.224454261116306e-5
allele num: 62026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

DP
type: SiteQuality
SIO_000300: 1.382498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

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

Latino
type: Population
allele count: 0
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.226118656644192e-5
allele num: 61994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
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VQSLOD
type: SiteQuality
SIO_000300: -2.601e-1

DP
type: SiteQuality
SIO_000300: 1.379435e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 3.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.717832665201087e-4
allele num: 61864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 1.3751e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.474587245063128e-4
allele num: 6178
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European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.142857142857143e-3
allele num: 61250
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.901548869503294e-5
allele num: 11234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

DP
type: SiteQuality
SIO_000300: 1.362272e6

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

Latino
type: Population
allele count: 1
allele frequency: 8.8999644001424e-5
allele num: 11236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12236
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.05e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.35935e6

QD
type: SiteQuality
SIO_000300: 8.67e0

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

East Asian
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allele count: 11
allele frequency: 1.317680881648299e-3
allele num: 8348
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.532318646503577e-5
allele num: 61234
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.133016088828461e-4
allele num: 8826
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
type: SiteQuality
SIO_000300: 1.358127e6

Latino
type: Population
allele count: 3
allele frequency: 2.671415850400712e-4
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12004
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VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.359154e6

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

FS
type: SiteQuality
SIO_000300: 9.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61186
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.006e0

MQ
type: SiteQuality
SIO_000300: 5.689e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.1e0

QD
type: SiteQuality
SIO_000300: 8.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.35597e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
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Other
type: Population
allele count: 1
allele frequency: 1.278772378516624e-3
allele num: 782
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.282455276546857e-5
allele num: 60930
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.234413965087282e-4
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 103
allele frequency: 1.183363970588235e-2
allele num: 8704
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
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MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 1.352079e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.78e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.348329e6

VQSLOD
type: SiteQuality
SIO_000300: -5.841e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 6.397e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.289690111191525e-5
allele num: 60796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 2.922e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.513e0

DP
type: SiteQuality
SIO_000300: 1.347781e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 8.99e0

South Asian
type: Population
allele count: 1
allele frequency: 9.216589861751152e-5
allele num: 10850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60630
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.203948952564411e-4
allele num: 8306
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African
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DP
type: SiteQuality
SIO_000300: 1.344508e6

FS
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

East Asian
type: Population
allele count: 1
allele frequency: 1.203948952564411e-4
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num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.409244644870349e-3
allele num: 10644
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European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.9147332936744e-5
allele num: 60516
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
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Latino
type: Population
allele count: 17
allele frequency: 1.518399428367274e-3
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African
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allele count: 282
allele frequency: 3.277545327754533e-2
allele num: 8604
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.343468e6

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 3.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.325e1

Latino
type: Population
allele count: 1
allele frequency: 8.946144211844694e-5
allele num: 11178
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
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Other
type: Population
allele count: 0
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European (Finnish)
type: Population
allele count: 2
allele frequency: 3.271180896303566e-4
allele num: 6114
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.337592e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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African
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allele count: 0
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.005631536604988e-4
allele num: 9944
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.233e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

DP
type: SiteQuality
SIO_000300: 1.316694e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.732e0

FS
type: SiteQuality
SIO_000300: 1.455e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
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African
type: Population
allele count: 1
allele frequency: 1.18595825426945e-4
allele num: 8432
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Other
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Latino
type: Population
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East Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

QD
type: SiteQuality
SIO_000300: 1.972e1

DP
type: SiteQuality
SIO_000300: 1.309171e6

FS
type: SiteQuality
SIO_000300: 2.741e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.036999999999999e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.223990208078335e-4
allele num: 8170
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.841e1

VQSLOD
type: SiteQuality
SIO_000300: -2.109e0

DP
type: SiteQuality
SIO_000300: 1.229474e6

FS
type: SiteQuality
SIO_000300: 1.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

African
type: Population
allele count: 1
allele frequency: 1.235788433020267e-4
allele num: 8092
num of homozygotes: 0

East Asian
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: 706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -3.377e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.206596e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

QD
type: SiteQuality
SIO_000300: 9.52e0

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

African
type: Population
allele count: 5
allele frequency: 6.215813028344107e-4
allele num: 8044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.123e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.161982e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 1.0105e1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.491280518186348e-4
allele num: 8028
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10888
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.131019e6

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.725506436139007e-5
allele num: 57954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.418e0

VQSLOD
type: SiteQuality
SIO_000300: -1.614e0

QD
type: SiteQuality
SIO_000300: 1.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.707e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

DP
type: SiteQuality
SIO_000300: 1.123045e6

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.611e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.729804532087874e-5
allele num: 57810
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.524861878453039e-4
allele num: 10860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.115507e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.746114894360049e-5
allele num: 57270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

QD
type: SiteQuality
SIO_000300: 1.737e1

DP
type: SiteQuality
SIO_000300: 1.047491e6

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.28131821702697e-5
allele num: 56804
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 4.633e0

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

DP
type: SiteQuality
SIO_000300: 1.037081e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 1
allele frequency: 1.270648030495553e-4
allele num: 7870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56804
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 1.037081e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.287332646755922e-4
allele num: 7768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 1.031566e6

FS
type: SiteQuality
SIO_000300: 1.702e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.933e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.76772140710624e-5
allele num: 56570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.031112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 7.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

VQSLOD
type: SiteQuality
SIO_000300: -9.686e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.002e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.163e-1

FS
type: SiteQuality
SIO_000300: 1.898e0

DP
type: SiteQuality
SIO_000300: 1.07098e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.17501e5

FS
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

African
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: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.401e1

DP
type: SiteQuality
SIO_000300: 1.33296e5

QD
type: SiteQuality
SIO_000300: 1.104e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.26e-2

GenotypeQuality
all individuals: 607
bin: 9.75e1
variant carriers: 38

Latino
type: Population
allele count: 1
allele frequency: 7.352941176470588e-3
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 8.064516129032258e-2
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.671e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.49388e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 149
bin: 6.25e1
variant carriers: 24

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 93
allele frequency: 6.586402266288952e-2
allele num: 1412
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.040816326530612e-2
allele num: 98
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 1.25e-1
allele num: 48
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 6.060606060606061e-2
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 3.317535545023697e-2
allele num: 422
num of homozygotes: 0

South Asian
type: Population
allele count: 222
allele frequency: 1.222466960352423e-1
allele num: 1816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.631e1

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.31702e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 29

GenotypeQuality
all individuals: 149
bin: 6.25e1
variant carriers: 89

East Asian
type: Population
allele count: 30
allele frequency: 2.272727272727273e-1
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.73469387755102e-1
allele num: 98
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 2.5e-1
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 341
allele frequency: 2.415014164305949e-1
allele num: 1412
num of homozygotes: 0

South Asian
type: Population
allele count: 581
allele frequency: 3.199339207048458e-1
allele num: 1816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 5.0e-1
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 105
allele frequency: 2.488151658767772e-1
allele num: 422
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

FS
type: SiteQuality
SIO_000300: 2.353e0

MQ
type: SiteQuality
SIO_000300: 5.631e1

QD
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.31702e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.0e-3
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.571e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 1.70029e5

QD
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 5.504e1

GenotypeQuality
all individuals: 784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.82e1

DP
type: SiteQuality
SIO_000300: 3.51973e5

FS
type: SiteQuality
SIO_000300: 0.0e0