1-1221319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221319
    reference: chr 1
allele count: 2
allele frequency: 8.190679007289704e-5
allele num: 24418
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.572C>T
  hgvsp: ENSP00000368411.5:p.Thr191Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.278C>T
  hgvsp: ENSP00000321594.8:p.Thr93Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.80C>T
  hgvsp: ENSP00000383717.3:p.Thr27Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.188C>T
  hgvsp: ENSP00000420548.1:p.Thr63Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.80C>T
  hgvsp: ENSP00000339504.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.478C>T
  hgvsp: ENSP00000449804.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr191Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-1221326-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221326
    reference: chr 1
allele count: 1
allele frequency: 4.423213021939137e-5
allele num: 22608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.195C>G
  hgvsp: ENST00000470022.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.285C>G
  hgvsp: ENST00000325425.8:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.485C>G
  hgvsp: ENSP00000449804.1:p.Pro162Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.87C>G
  hgvsp: ENST00000400928.3:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.87C>G
  hgvsp: ENST00000338555.2:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.579C>G
  hgvsp: ENST00000379116.5:c.579C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 546
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genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro162Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-1221326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221326
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 22608
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.579C>T
  hgvsp: ENST00000379116.5:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.285C>T
  hgvsp: ENST00000325425.8:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.195C>T
  hgvsp: ENST00000470022.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.87C>T
  hgvsp: ENST00000338555.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.485C>T
  hgvsp: ENSP00000449804.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.87C>T
  hgvsp: ENST00000400928.3:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27838
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 18384
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 1343
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genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro162Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

1-1221331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221331
    reference: chr 1
allele count: 3
allele frequency: 1.346378242527601e-4
allele num: 22282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.92C>T
  hgvsp: ENSP00000339504.2:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.490C>T
  hgvsp: ENSP00000449804.1:p.Arg164Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.200C>T
  hgvsp: ENSP00000420548.1:p.Pro67Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.584C>T
  hgvsp: ENSP00000368411.5:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.92C>T
  hgvsp: ENSP00000383717.3:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.290C>T
  hgvsp: ENSP00000321594.8:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
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genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27605
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8559
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro195Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-1221332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221332
    reference: chr 1
allele count: 5
allele frequency: 2.242152466367713e-4
allele num: 22300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.491G>A
  hgvsp: ENSP00000449804.1:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.585G>A
  hgvsp: ENST00000379116.5:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.201G>A
  hgvsp: ENST00000470022.1:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.291G>A
  hgvsp: ENST00000325425.8:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.93G>A
  hgvsp: ENST00000400928.3:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.93G>A
  hgvsp: ENST00000338555.2:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27546
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg164Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

1-1221343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221343
    reference: chr 1
allele count: 2
allele frequency: 9.024456276509341e-5
allele num: 22162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.502C>T
  hgvsp: ENSP00000449804.1:p.Gln168Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.596C>T
  hgvsp: ENSP00000368411.5:p.Ser199Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.104C>T
  hgvsp: ENSP00000339504.2:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.104C>T
  hgvsp: ENSP00000383717.3:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.302C>T
  hgvsp: ENSP00000321594.8:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.212C>T
  hgvsp: ENSP00000420548.1:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln168Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1221344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221344
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221344
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 22536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.503A>G
  hgvsp: ENSP00000449804.1:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.105A>G
  hgvsp: ENST00000400928.3:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.213A>G
  hgvsp: ENST00000470022.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.105A>G
  hgvsp: ENST00000338555.2:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.597A>G
  hgvsp: ENST00000379116.5:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.303A>G
  hgvsp: ENST00000325425.8:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25855
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20977
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln168Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-1221345-GCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221345
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221342
    reference: chr 1
allele count: 4
allele frequency: 1.896273821939888e-4
allele num: 21094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.518_520delACC
  hgvsp: ENSP00000449804.1:p.His173del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.612_614delACC
  hgvsp: ENSP00000368411.5:p.Pro205del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.318_320delACC
  hgvsp: ENSP00000321594.8:p.Pro107del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.120_122delACC
  hgvsp: ENSP00000339504.2:p.Pro41del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.228_230delACC
  hgvsp: ENSP00000420548.1:p.Pro77del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.120_122delACC
  hgvsp: ENSP00000383717.3:p.Pro41del
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro205del
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: GCAC
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1221358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221358
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221358
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 20434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.119C>T
  hgvsp: ENSP00000339504.2:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.317C>T
  hgvsp: ENSP00000321594.8:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.517C>T
  hgvsp: ENSP00000449804.1:p.His173Tyr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.611C>T
  hgvsp: ENSP00000368411.5:p.Pro204Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.227C>T
  hgvsp: ENSP00000420548.1:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.119C>T
  hgvsp: ENSP00000383717.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23019
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro204Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/1-1221359-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221359
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221359
    reference: chr 1
allele count: 1
allele frequency: 4.951475539710834e-5
allele num: 20196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.518A>C
  hgvsp: ENSP00000449804.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.612A>C
  hgvsp: ENST00000379116.5:c.612A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.120A>C
  hgvsp: ENST00000338555.2:c.120A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.120A>C
  hgvsp: ENST00000400928.3:c.120A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.318A>C
  hgvsp: ENST00000325425.8:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.228A>C
  hgvsp: ENST00000470022.1:c.228A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23011
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His173Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1221363-A-AAGGAGGGGCACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221375
    reference: chr 1
allele count: 5
allele frequency: 2.451220707912541e-4
allele num: 20398
alternate allele: AAGGAGGGGCACC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsp: ENSP00000321594.8:p.His111_Gly114dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsp: ENSP00000339504.2:p.His45_Gly48dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsp: ENSP00000383717.3:p.His45_Gly48dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsp: ENSP00000449804.1:p.Thr178_Gly181dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsp: ENSP00000368411.5:p.His209_Gly212dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsp: ENSP00000420548.1:p.His81_Gly84dup
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 24569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His209_Gly212dup
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-1221369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221369
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221369
    reference: chr 1
allele count: 1
allele frequency: 4.848719937936385e-5
allele num: 20624
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.622G>A
  hgvsp: ENSP00000368411.5:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.328G>A
  hgvsp: ENSP00000321594.8:p.Gly110Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.130G>A
  hgvsp: ENSP00000339504.2:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.528G>A
  hgvsp: ENST00000379101.4:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.130G>A
  hgvsp: ENSP00000383717.3:p.Gly44Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.238G>A
  hgvsp: ENSP00000420548.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly208Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-1221382-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221382
    reference: chr 1
allele count: 1
allele frequency: 4.645113340765515e-5
allele num: 21528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.635G>C
  hgvsp: ENSP00000368411.5:p.Gly212Ala
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.341G>C
  hgvsp: ENSP00000321594.8:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.541G>C
  hgvsp: ENSP00000449804.1:p.Gly181Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.143G>C
  hgvsp: ENSP00000383717.3:p.Gly48Ala
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.143G>C
  hgvsp: ENSP00000339504.2:p.Gly48Ala
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.251G>C
  hgvsp: ENSP00000420548.1:p.Gly84Ala
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly212Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

1-1221387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221387
    reference: chr 1
allele count: 1
allele frequency: 4.589682393978337e-5
allele num: 21788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.148G>A
  hgvsp: ENSP00000339504.2:p.Val50Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.346G>A
  hgvsp: ENSP00000321594.8:p.Val116Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.640G>A
  hgvsp: ENSP00000368411.5:p.Val214Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.546G>A
  hgvsp: ENSP00000449804.1:p.Trp182Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.148G>A
  hgvsp: ENSP00000383717.3:p.Val50Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.256G>A
  hgvsp: ENSP00000420548.1:p.Val86Met
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp182Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-1221392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221392
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 21986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.153G>A
  hgvsp: ENST00000400928.3:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.551G>A
  hgvsp: ENSP00000449804.1:p.Ser184Asn
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.645G>A
  hgvsp: ENST00000379116.5:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.153G>A
  hgvsp: ENST00000338555.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.351G>A
  hgvsp: ENST00000325425.8:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.261G>A
  hgvsp: ENST00000470022.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25609
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser184Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-1221394-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221394
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221394
    reference: chr 1
allele count: 1
allele frequency: 4.504098729844158e-5
allele num: 22202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.155T>C
  hgvsp: ENSP00000339504.2:p.Leu52Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.553T>C
  hgvsp: ENSP00000449804.1:p.Cys185Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.647T>C
  hgvsp: ENSP00000368411.5:p.Leu216Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.155T>C
  hgvsp: ENSP00000383717.3:p.Leu52Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.353T>C
  hgvsp: ENSP00000321594.8:p.Leu118Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.263T>C
  hgvsp: ENSP00000420548.1:p.Leu88Pro
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu216Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

1-1221398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221398
    reference: chr 1
allele count: 11
allele frequency: 4.919499105545618e-4
allele num: 22360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.557C>T
  hgvsp: ENSP00000449804.1:p.Pro186Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.267C>T
  hgvsp: ENST00000470022.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.357C>T
  hgvsp: ENST00000325425.8:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.159C>T
  hgvsp: ENST00000338555.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.651C>T
  hgvsp: ENST00000379116.5:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.159C>T
  hgvsp: ENST00000400928.3:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26661
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro186Leu
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-1221399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221399
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 22768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.558G>A
  hgvsp: ENST00000379101.4:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.160G>A
  hgvsp: ENSP00000339504.2:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.268G>A
  hgvsp: ENSP00000420548.1:p.Ala90Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.358G>A
  hgvsp: ENSP00000321594.8:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.160G>A
  hgvsp: ENSP00000383717.3:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.652G>A
  hgvsp: ENSP00000368411.5:p.Ala218Thr
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27064
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala218Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

1-1221403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221403
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 23408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.164C>T
  hgvsp: ENSP00000339504.2:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.656C>T
  hgvsp: ENSP00000368411.5:p.Ser219Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.562C>T
  hgvsp: ENSP00000449804.1:p.Arg188Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.362C>T
  hgvsp: ENSP00000321594.8:p.Ser121Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.272C>T
  hgvsp: ENSP00000420548.1:p.Ser91Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.164C>T
  hgvsp: ENSP00000383717.3:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28075
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser219Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

1-1221404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221404
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 23792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.165G>A
  hgvsp: ENST00000338555.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.563G>A
  hgvsp: ENSP00000449804.1:p.Arg188His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.363G>A
  hgvsp: ENST00000325425.8:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.273G>A
  hgvsp: ENST00000470022.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.165G>A
  hgvsp: ENST00000400928.3:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.657G>A
  hgvsp: ENST00000379116.5:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28584
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg188His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-1221407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221407
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.660C>T
  hgvsp: ENST00000379116.5:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.168C>T
  hgvsp: ENST00000338555.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.566C>T
  hgvsp: ENSP00000449804.1:p.Ser189Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.366C>T
  hgvsp: ENST00000325425.8:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.168C>T
  hgvsp: ENST00000400928.3:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.276C>T
  hgvsp: ENST00000470022.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6662
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser189Phe
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-1221408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221408
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.367C>T
  hgvsp: ENSP00000321594.8:p.Arg123Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.169C>T
  hgvsp: ENSP00000383717.3:p.Arg57Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.661C>T
  hgvsp: ENSP00000368411.5:p.Arg221Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.277C>T
  hgvsp: ENSP00000420548.1:p.Arg93Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.169C>T
  hgvsp: ENSP00000339504.2:p.Arg57Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.567C>T
  hgvsp: ENST00000379101.4:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29628
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24285
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg221Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-1221409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221409
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221409
    reference: chr 1
allele count: 71
allele frequency: 2.883834281072299e-3
allele num: 24620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.170G>A
  hgvsp: ENSP00000383717.3:p.Arg57Gln
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.170G>A
  hgvsp: ENSP00000339504.2:p.Arg57Gln
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.368G>A
  hgvsp: ENSP00000321594.8:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.568G>A
  hgvsp: ENSP00000449804.1:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.662G>A
  hgvsp: ENSP00000368411.5:p.Arg221Gln
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.278G>A
  hgvsp: ENSP00000420548.1:p.Arg93Gln
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29969
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 16267
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24940
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg221Gln
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-1221419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221419
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 27590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.378C>T
  hgvsp: ENST00000325425.8:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.672C>T
  hgvsp: ENST00000379116.5:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.578C>T
  hgvsp: ENSP00000449804.1:p.Ser193Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.288C>T
  hgvsp: ENST00000470022.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.180C>T
  hgvsp: ENST00000338555.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.180C>T
  hgvsp: ENST00000400928.3:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 33035
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12247
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser193Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

1-1221421-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221421
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221418
    reference: chr 1
allele count: 1
allele frequency: 3.521622763769545e-5
allele num: 28396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.188_190delTCT
  hgvsp: ENSP00000339504.2:p.Phe63del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.386_388delTCT
  hgvsp: ENSP00000321594.8:p.Phe129del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.188_190delTCT
  hgvsp: ENSP00000383717.3:p.Phe63del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.586_588delTCT
  hgvsp: ENSP00000449804.1:p.Ser196del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.680_682delTCT
  hgvsp: ENSP00000368411.5:p.Phe227del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.296_298delTCT
  hgvsp: ENSP00000420548.1:p.Phe99del
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe227del
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CCTT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-1221422-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221422
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221422
    reference: chr 1
allele count: 6
allele frequency: 2.086666202963066e-4
allele num: 28754
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.675C>G
  hgvsp: ENST00000379116.5:c.675C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.381C>G
  hgvsp: ENST00000325425.8:c.381C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.581C>G
  hgvsp: ENSP00000449804.1:p.Pro194Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.291C>G
  hgvsp: ENST00000470022.1:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.183C>G
  hgvsp: ENST00000400928.3:c.183C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.183C>G
  hgvsp: ENST00000338555.2:c.183C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33709
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro194Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-1221423-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221423
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221423
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 29134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.184T>A
  hgvsp: ENSP00000383717.3:p.Phe62Ile
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.184T>A
  hgvsp: ENSP00000339504.2:p.Phe62Ile
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.582T>A
  hgvsp: ENST00000379101.4:c.582T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.382T>A
  hgvsp: ENSP00000321594.8:p.Phe128Ile
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.676T>A
  hgvsp: ENSP00000368411.5:p.Phe226Ile
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.292T>A
  hgvsp: ENSP00000420548.1:p.Phe98Ile
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33948
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31653
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe226Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1221424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221424
    reference: chr 1
allele count: 2
allele frequency: 6.80133306128001e-5
allele num: 29406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.583T>C
  hgvsp: ENSP00000449804.1:p.Ser195Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.185T>C
  hgvsp: ENSP00000383717.3:p.Phe62Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.677T>C
  hgvsp: ENSP00000368411.5:p.Phe226Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.185T>C
  hgvsp: ENSP00000339504.2:p.Phe62Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.383T>C
  hgvsp: ENSP00000321594.8:p.Phe128Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.293T>C
  hgvsp: ENSP00000420548.1:p.Phe98Ser
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34151
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31919
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe226Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-1221425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221425
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221425
    reference: chr 1
allele count: 1
allele frequency: 3.377921902445615e-5
allele num: 29604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.186C>T
  hgvsp: ENST00000400928.3:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.584C>T
  hgvsp: ENSP00000449804.1:p.Ser195Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.294C>T
  hgvsp: ENST00000470022.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.678C>T
  hgvsp: ENST00000379116.5:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.384C>T
  hgvsp: ENST00000325425.8:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.186C>T
  hgvsp: ENST00000338555.2:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser195Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-1221434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221434
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 33168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.195C>T
  hgvsp: ENST00000338555.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.303C>T
  hgvsp: ENST00000470022.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.687C>T
  hgvsp: ENST00000379116.5:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.593C>T
  hgvsp: ENSP00000449804.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.195C>T
  hgvsp: ENST00000400928.3:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.393C>T
  hgvsp: ENST00000325425.8:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35072
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro198Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-1221436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221436
    reference: chr 1
allele count: 2
allele frequency: 5.846243788365975e-5
allele num: 34210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.689A>G
  hgvsp: ENSP00000368411.5:p.Asn230Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.595A>G
  hgvsp: ENSP00000449804.1:p.Met199Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.395A>G
  hgvsp: ENSP00000321594.8:p.Asn132Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.197A>G
  hgvsp: ENSP00000339504.2:p.Asn66Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.197A>G
  hgvsp: ENSP00000383717.3:p.Asn66Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.305A>G
  hgvsp: ENSP00000420548.1:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35341
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn230Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-1221449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221449
    reference: chr 1
allele count: 2
allele frequency: 4.72411186696901e-5
allele num: 42336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.210C>T
  hgvsp: ENST00000400928.3:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.408C>T
  hgvsp: ENST00000325425.8:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.210C>T
  hgvsp: ENST00000338555.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.318C>T
  hgvsp: ENST00000470022.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.702C>T
  hgvsp: ENST00000379116.5:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.608C>T
  hgvsp: ENSP00000449804.1:p.Thr203Met
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr203Met
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

1-1221450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221450
    reference: chr 1
allele count: 5
allele frequency: 1.142021835457494e-4
allele num: 43782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.609G>A
  hgvsp: ENST00000379101.4:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.319G>A
  hgvsp: ENSP00000420548.1:p.Gly107Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.211G>A
  hgvsp: ENSP00000383717.3:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.703G>A
  hgvsp: ENSP00000368411.5:p.Gly235Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.409G>A
  hgvsp: ENSP00000321594.8:p.Gly137Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.211G>A
  hgvsp: ENSP00000339504.2:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11808
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly235Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-1221452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221452
    reference: chr 1
allele count: 15
allele frequency: 3.310235247384914e-4
allele num: 45314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.611C>T
  hgvsp: ENSP00000449804.1:p.Ala204Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.411C>T
  hgvsp: ENST00000325425.8:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.213C>T
  hgvsp: ENST00000400928.3:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.705C>T
  hgvsp: ENST00000379116.5:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.321C>T
  hgvsp: ENST00000470022.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.213C>T
  hgvsp: ENST00000338555.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 11
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
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 361
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala204Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

1-1221458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221458
    reference: chr 1
allele count: 12
allele frequency: 2.232807383149747e-4
allele num: 53744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.711C>T
  hgvsp: ENST00000379116.5:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.617C>T
  hgvsp: ENSP00000449804.1:p.Ser206Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.327C>T
  hgvsp: ENST00000470022.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.219C>T
  hgvsp: ENST00000338555.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.219C>T
  hgvsp: ENST00000400928.3:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.417C>T
  hgvsp: ENST00000325425.8:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30718
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser206Phe
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-1221459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221459
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221459
    reference: chr 1
allele count: 5
allele frequency: 9.12841859276299e-5
allele num: 54774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.220C>T
  hgvsp: ENSP00000339504.2:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.328C>T
  hgvsp: ENSP00000420548.1:p.Arg110Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.712C>T
  hgvsp: ENSP00000368411.5:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.418C>T
  hgvsp: ENSP00000321594.8:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.220C>T
  hgvsp: ENSP00000383717.3:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.618C>T
  hgvsp: ENST00000379101.4:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 30269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg238Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

1-1221460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221460
    reference: chr 1
allele count: 37
allele frequency: 6.609975703873089e-4
allele num: 55976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.221G>A
  hgvsp: ENSP00000383717.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.329G>A
  hgvsp: ENSP00000420548.1:p.Arg110His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.619G>A
  hgvsp: ENSP00000449804.1:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.221G>A
  hgvsp: ENSP00000339504.2:p.Arg74His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.713G>A
  hgvsp: ENSP00000368411.5:p.Arg238His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.419G>A
  hgvsp: ENSP00000321594.8:p.Arg140His
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29178
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17257
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg238His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

1-1221460-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221460
    reference: chr 1
allele count: 1
allele frequency: 1.786479919965699e-5
allele num: 55976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.619G>C
  hgvsp: ENSP00000449804.1:p.Ala207Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.221G>C
  hgvsp: ENSP00000339504.2:p.Arg74Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.221G>C
  hgvsp: ENSP00000383717.3:p.Arg74Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.329G>C
  hgvsp: ENSP00000420548.1:p.Arg110Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.419G>C
  hgvsp: ENSP00000321594.8:p.Arg140Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.713G>C
  hgvsp: ENSP00000368411.5:p.Arg238Pro
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg238Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1221460-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221460
    reference: chr 1
allele count: 26
allele frequency: 4.644847791910819e-4
allele num: 55976
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.713G>T
  hgvsp: ENSP00000368411.5:p.Arg238Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.419G>T
  hgvsp: ENSP00000321594.8:p.Arg140Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.221G>T
  hgvsp: ENSP00000383717.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.619G>T
  hgvsp: ENSP00000449804.1:p.Ala207Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.221G>T
  hgvsp: ENSP00000339504.2:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.329G>T
  hgvsp: ENSP00000420548.1:p.Arg110Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29178
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg238Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-1221461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221461
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221461
    reference: chr 1
allele count: 1
allele frequency: 1.738707097402371e-5
allele num: 57514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.620C>T
  hgvsp: ENSP00000449804.1:p.Ala207Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.714C>T
  hgvsp: ENST00000379116.5:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.222C>T
  hgvsp: ENST00000338555.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.420C>T
  hgvsp: ENST00000325425.8:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.330C>T
  hgvsp: ENST00000470022.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.222C>T
  hgvsp: ENST00000400928.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala207Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-1221464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221464
    reference: chr 1
allele count: 4
allele frequency: 6.630420368651372e-5
allele num: 60328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.333G>A
  hgvsp: ENST00000470022.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.225G>A
  hgvsp: ENST00000400928.3:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.717G>A
  hgvsp: ENST00000379116.5:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.225G>A
  hgvsp: ENST00000338555.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.423G>A
  hgvsp: ENST00000325425.8:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.623G>A
  hgvsp: ENSP00000449804.1:p.Trp208Ter
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18826
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp208Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-1221470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221470
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221470
    reference: chr 1
allele count: 1
allele frequency: 1.55574224462491e-5
allele num: 64278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.339C>T
  hgvsp: ENST00000470022.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.231C>T
  hgvsp: ENST00000338555.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.429C>T
  hgvsp: ENST00000325425.8:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.231C>T
  hgvsp: ENST00000400928.3:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.723C>T
  hgvsp: ENST00000379116.5:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.629C>T
  hgvsp: ENSP00000449804.1:p.Ala210Val
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala210Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-1221472-C-CCCGCGGGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221481
    reference: chr 1
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
alternate allele: CCCGCGGGAA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.238_246dupGGGAACCGC
  hgvsp: ENSP00000339504.2:p.Gly80_Arg82dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.346_354dupGGGAACCGC
  hgvsp: ENSP00000420548.1:p.Gly116_Arg118dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.730_738dupGGGAACCGC
  hgvsp: ENSP00000368411.5:p.Gly244_Arg246dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.636_644dupGGGAACCGC
  hgvsp: ENSP00000449804.1:p.Gly213_Ala215dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.436_444dupGGGAACCGC
  hgvsp: ENSP00000321594.8:p.Gly146_Arg148dup
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.238_246dupGGGAACCGC
  hgvsp: ENSP00000383717.3:p.Gly80_Arg82dup
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24801
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly244_Arg246dup
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1221472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221472
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 66652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.431C>T
  hgvsp: ENSP00000321594.8:p.Ser144Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.233C>T
  hgvsp: ENSP00000383717.3:p.Ser78Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.631C>T
  hgvsp: ENSP00000449804.1:p.Pro211Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.233C>T
  hgvsp: ENSP00000339504.2:p.Ser78Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.341C>T
  hgvsp: ENSP00000420548.1:p.Ser114Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.725C>T
  hgvsp: ENSP00000368411.5:p.Ser242Phe
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24801
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser242Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-1221473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221473
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221473
    reference: chr 1
allele count: 1
allele frequency: 1.485177924315333e-5
allele num: 67332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.726C>T
  hgvsp: ENST00000379116.5:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.342C>T
  hgvsp: ENST00000470022.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.432C>T
  hgvsp: ENST00000325425.8:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.234C>T
  hgvsp: ENST00000338555.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.234C>T
  hgvsp: ENST00000400928.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.632C>T
  hgvsp: ENSP00000449804.1:p.Pro211Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro211Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-1221474-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221474
    reference: chr 1
allele count: 2
allele frequency: 2.934272300469483e-5
allele num: 68160
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.727C>G
  hgvsp: ENSP00000368411.5:p.Arg243Gly
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.235C>G
  hgvsp: ENSP00000383717.3:p.Arg79Gly
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.433C>G
  hgvsp: ENSP00000321594.8:p.Arg145Gly
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.235C>G
  hgvsp: ENSP00000339504.2:p.Arg79Gly
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.343C>G
  hgvsp: ENSP00000420548.1:p.Arg115Gly
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.633C>G
  hgvsp: ENST00000379101.4:c.633C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21830
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg243Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-1221475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221475
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221475
    reference: chr 1
allele count: 8
allele frequency: 1.143020431490213e-4
allele num: 69990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.434G>A
  hgvsp: ENSP00000321594.8:p.Arg145His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.634G>A
  hgvsp: ENSP00000449804.1:p.Ala212Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.728G>A
  hgvsp: ENSP00000368411.5:p.Arg243His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.236G>A
  hgvsp: ENSP00000383717.3:p.Arg79His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.344G>A
  hgvsp: ENSP00000420548.1:p.Arg115His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.236G>A
  hgvsp: ENSP00000339504.2:p.Arg79His
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22806
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg243His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-1221476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221476
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221476
    reference: chr 1
allele count: 13
allele frequency: 1.835017785556998e-4
allele num: 70844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.635C>T
  hgvsp: ENSP00000449804.1:p.Ala212Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.729C>T
  hgvsp: ENST00000379116.5:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.237C>T
  hgvsp: ENST00000338555.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.345C>T
  hgvsp: ENST00000470022.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.237C>T
  hgvsp: ENST00000400928.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.435C>T
  hgvsp: ENST00000325425.8:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22727
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23079
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 23606
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala212Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-1221477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221477
    reference: chr 1
allele count: 1
allele frequency: 1.352374770096289e-5
allele num: 73944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.636G>A
  hgvsp: ENST00000379101.4:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.730G>A
  hgvsp: ENSP00000368411.5:p.Gly244Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.238G>A
  hgvsp: ENSP00000339504.2:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.238G>A
  hgvsp: ENSP00000383717.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.436G>A
  hgvsp: ENSP00000321594.8:p.Gly146Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.346G>A
  hgvsp: ENSP00000420548.1:p.Gly116Arg
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly244Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-1221479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221479
    reference: chr 1
allele count: 1
allele frequency: 1.313956849657057e-5
allele num: 76106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.732G>A
  hgvsp: ENST00000379116.5:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.240G>A
  hgvsp: ENST00000338555.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.240G>A
  hgvsp: ENST00000400928.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.348G>A
  hgvsp: ENST00000470022.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.638G>A
  hgvsp: ENSP00000449804.1:p.Gly213Glu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.438G>A
  hgvsp: ENST00000325425.8:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly213Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-1221482-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221482
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221482
    reference: chr 1
allele count: 1
allele frequency: 1.278445410380977e-5
allele num: 78220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.243C>A
  hgvsp: ENSP00000339504.2:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.641C>A
  hgvsp: ENSP00000449804.1:p.Thr214Asn
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.441C>A
  hgvsp: ENSP00000321594.8:p.Asn147Lys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.351C>A
  hgvsp: ENSP00000420548.1:p.Asn117Lys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.243C>A
  hgvsp: ENSP00000383717.3:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.735C>A
  hgvsp: ENSP00000368411.5:p.Asn245Lys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26581
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn245Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-1221483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221483
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221483
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 78656
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.736C>T
  hgvsp: ENSP00000368411.5:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.244C>T
  hgvsp: ENSP00000383717.3:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.442C>T
  hgvsp: ENSP00000321594.8:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.244C>T
  hgvsp: ENSP00000339504.2:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.352C>T
  hgvsp: ENSP00000420548.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.642C>T
  hgvsp: ENST00000379101.4:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19355
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg246Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-1221484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221484
    reference: chr 1
allele count: 4
allele frequency: 5.037910274818005e-5
allele num: 79398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.353G>A
  hgvsp: ENSP00000420548.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.245G>A
  hgvsp: ENSP00000339504.2:p.Arg82His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.443G>A
  hgvsp: ENSP00000321594.8:p.Arg148His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.737G>A
  hgvsp: ENSP00000368411.5:p.Arg246His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.245G>A
  hgvsp: ENSP00000383717.3:p.Arg82His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.643G>A
  hgvsp: ENSP00000449804.1:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18916
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26949
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg246His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

1-1221485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221485
    reference: chr 1
allele count: 1
allele frequency: 1.241033532726054e-5
allele num: 80578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.246C>T
  hgvsp: ENST00000338555.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.354C>T
  hgvsp: ENST00000470022.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.444C>T
  hgvsp: ENST00000325425.8:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.644C>T
  hgvsp: ENSP00000449804.1:p.Ala215Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.738C>T
  hgvsp: ENST00000379116.5:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.246C>T
  hgvsp: ENST00000400928.3:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala215Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-1221488-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221486
    reference: chr 1
allele count: 165
allele frequency: 2.000679018333495e-3
allele num: 82472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.358_359delAA
  hgvsp: ENSP00000420548.1:p.Lys120AspfsTer?
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.648_649delAA
  hgvsp: ENSP00000449804.1:p.Arg217ThrfsTer?
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.448_449delAA
  hgvsp: ENSP00000321594.8:p.Lys150AspfsTer24
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.742_743delAA
  hgvsp: ENSP00000368411.5:p.Lys248AspfsTer24
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.250_251delAA
  hgvsp: ENSP00000339504.2:p.Lys84AspfsTer24
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.250_251delAA
  hgvsp: ENSP00000383717.3:p.Lys84AspfsTer24
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 28532
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17702
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.75e1
  variant carriers: 165
hgvs: p.Lys248AspfsTer24
num of homozygotes: 1
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CAA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1221490-AGAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221490
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221487
    reference: chr 1
allele count: 1
allele frequency: 1.197805620103969e-5
allele num: 83486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.454_456delACG
  hgvsp: ENSP00000321594.8:p.Thr152del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.256_258delACG
  hgvsp: ENSP00000383717.3:p.Thr86del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.256_258delACG
  hgvsp: ENSP00000339504.2:p.Thr86del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.748_750delACG
  hgvsp: ENSP00000368411.5:p.Thr250del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.364_366delACG
  hgvsp: ENSP00000420548.1:p.Thr122del
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.654_656delACG
  hgvsp: ENSP00000449804.1:p.Arg219del
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr250del
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AGAC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-1221493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221493
    reference: chr 1
allele count: 7
allele frequency: 8.24615964565074e-5
allele num: 84888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.452C>T
  hgvsp: ENSP00000321594.8:p.Thr151Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.254C>T
  hgvsp: ENSP00000339504.2:p.Thr85Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.254C>T
  hgvsp: ENSP00000383717.3:p.Thr85Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.362C>T
  hgvsp: ENSP00000420548.1:p.Thr121Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.746C>T
  hgvsp: ENSP00000368411.5:p.Thr249Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.652C>T
  hgvsp: ENSP00000449804.1:p.Arg218Ter
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16537
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg218Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-1221494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221494
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221494
    reference: chr 1
allele count: 3
allele frequency: 3.517658646404953e-5
allele num: 85284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.453G>A
  hgvsp: ENST00000325425.8:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.653G>A
  hgvsp: ENSP00000449804.1:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.255G>A
  hgvsp: ENST00000338555.2:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.363G>A
  hgvsp: ENST00000470022.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.255G>A
  hgvsp: ENST00000400928.3:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.747G>A
  hgvsp: ENST00000379116.5:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg218Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-1221496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221496
    reference: chr 1
allele count: 36
allele frequency: 4.177400264568683e-4
allele num: 86178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.257C>T
  hgvsp: ENSP00000339504.2:p.Thr86Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.365C>T
  hgvsp: ENSP00000420548.1:p.Thr122Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.455C>T
  hgvsp: ENSP00000321594.8:p.Thr152Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.655C>T
  hgvsp: ENSP00000449804.1:p.Arg219Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.257C>T
  hgvsp: ENSP00000383717.3:p.Thr86Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.749C>T
  hgvsp: ENSP00000368411.5:p.Thr250Met
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15905
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30089
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr250Met
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-1221497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221497
    reference: chr 1
allele count: 1
allele frequency: 1.154547763640982e-5
allele num: 86614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.258G>A
  hgvsp: ENST00000338555.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.258G>A
  hgvsp: ENST00000400928.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.366G>A
  hgvsp: ENST00000470022.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.656G>A
  hgvsp: ENSP00000449804.1:p.Arg219His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.750G>A
  hgvsp: ENST00000379116.5:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.456G>A
  hgvsp: ENST00000325425.8:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg219His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-1221499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221499
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221499
    reference: chr 1
allele count: 1
allele frequency: 1.145475372279496e-5
allele num: 87300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.752C>T
  hgvsp: ENSP00000368411.5:p.Ser251Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.260C>T
  hgvsp: ENSP00000383717.3:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.368C>T
  hgvsp: ENSP00000420548.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.458C>T
  hgvsp: ENSP00000321594.8:p.Ser153Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.658C>T
  hgvsp: ENSP00000449804.1:p.Pro220Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.260C>T
  hgvsp: ENSP00000339504.2:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser251Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-1221502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221502
    reference: chr 1
allele count: 1
allele frequency: 1.137449383502434e-5
allele num: 87916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.263G>A
  hgvsp: ENSP00000383717.3:p.Trp88Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.263G>A
  hgvsp: ENSP00000339504.2:p.Trp88Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.371G>A
  hgvsp: ENSP00000420548.1:p.Trp124Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.661G>A
  hgvsp: ENSP00000449804.1:p.Gly221Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.461G>A
  hgvsp: ENSP00000321594.8:p.Trp154Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.755G>A
  hgvsp: ENSP00000368411.5:p.Trp252Ter
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp252Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-1221514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221514
    reference: chr 1
allele count: 1
allele frequency: 1.131068180789938e-5
allele num: 88412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.275C>T
  hgvsp: ENSP00000339504.2:p.Ser92Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.275C>T
  hgvsp: ENSP00000383717.3:p.Ser92Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.767C>T
  hgvsp: ENSP00000368411.5:p.Ser256Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.673C>T
  hgvsp: ENSP00000449804.1:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.473C>T
  hgvsp: ENSP00000321594.8:p.Ser158Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.383C>T
  hgvsp: ENSP00000420548.1:p.Ser128Phe
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1840
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser256Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

1-1221516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221516
    reference: chr 1
allele count: 2
allele frequency: 2.257693089201454e-5
allele num: 88586
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.769C>T
  hgvsp: ENST00000379116.5:c.769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.277C>T
  hgvsp: ENST00000400928.3:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.675C>T
  hgvsp: ENST00000379101.4:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.475C>T
  hgvsp: ENST00000325425.8:c.475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.277C>T
  hgvsp: ENST00000338555.2:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.385C>T
  hgvsp: ENST00000470022.1:c.385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu257Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-1221524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221524
    reference: chr 1
allele count: 1
allele frequency: 1.13445568816082e-5
allele num: 88148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.393C>T
  hgvsp: ENST00000470022.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.683C>T
  hgvsp: ENSP00000449804.1:p.Pro228Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.285C>T
  hgvsp: ENST00000400928.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.777C>T
  hgvsp: ENST00000379116.5:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.483C>T
  hgvsp: ENST00000325425.8:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.285C>T
  hgvsp: ENST00000338555.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro228Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/1-1221530-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221530
    reference: chr 1
allele count: 1
allele frequency: 1.140875279514443e-5
allele num: 87652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.291C>A
  hgvsp: ENST00000338555.2:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.489C>A
  hgvsp: ENST00000325425.8:c.489C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.689C>A
  hgvsp: ENSP00000449804.1:p.Ser230Ter
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.399C>A
  hgvsp: ENST00000470022.1:c.399C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.291C>A
  hgvsp: ENST00000400928.3:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.783C>A
  hgvsp: ENST00000379116.5:c.783C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser230Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-1221530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221530
    reference: chr 1
allele count: 23
allele frequency: 2.62401314288322e-4
allele num: 87652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.291C>T
  hgvsp: ENST00000338555.2:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.783C>T
  hgvsp: ENST00000379116.5:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.399C>T
  hgvsp: ENST00000470022.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.489C>T
  hgvsp: ENST00000325425.8:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.689C>T
  hgvsp: ENSP00000449804.1:p.Ser230Leu
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.291C>T
  hgvsp: ENST00000400928.3:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24293
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser230Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-1221531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221531
    reference: chr 1
allele count: 2
allele frequency: 2.287021154945683e-5
allele num: 87450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.784G>A
  hgvsp: ENSP00000368411.5:p.Ala262Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.690G>A
  hgvsp: ENST00000379101.4:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.490G>A
  hgvsp: ENSP00000321594.8:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.400G>A
  hgvsp: ENSP00000420548.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.292G>A
  hgvsp: ENSP00000339504.2:p.Ala98Thr
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.292G>A
  hgvsp: ENSP00000383717.3:p.Ala98Thr
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala262Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-1221532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221532
    reference: chr 1
allele count: 2
allele frequency: 2.283522104493971e-5
allele num: 87584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.491C>T
  hgvsp: ENSP00000321594.8:p.Ala164Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.293C>T
  hgvsp: ENSP00000383717.3:p.Ala98Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.293C>T
  hgvsp: ENSP00000339504.2:p.Ala98Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.785C>T
  hgvsp: ENSP00000368411.5:p.Ala262Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.401C>T
  hgvsp: ENSP00000420548.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.691C>T
  hgvsp: ENSP00000449804.1:p.Arg231Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala262Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-1221533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221533
    reference: chr 1
allele count: 29
allele frequency: 3.325077967345441e-4
allele num: 87216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.294G>A
  hgvsp: ENST00000338555.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.492G>A
  hgvsp: ENST00000325425.8:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.402G>A
  hgvsp: ENST00000470022.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.692G>A
  hgvsp: ENSP00000449804.1:p.Arg231His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.294G>A
  hgvsp: ENST00000400928.3:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.786G>A
  hgvsp: ENST00000379116.5:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23501
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26276
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg231His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-1221536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221536
    reference: chr 1
allele count: 1
allele frequency: 1.154841093865484e-5
allele num: 86592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.789C>T
  hgvsp: ENST00000379116.5:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.405C>T
  hgvsp: ENST00000470022.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.495C>T
  hgvsp: ENST00000325425.8:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.297C>T
  hgvsp: ENST00000400928.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.695C>T
  hgvsp: ENSP00000449804.1:p.Ser232Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.297C>T
  hgvsp: ENST00000338555.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser232Phe
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-1221547-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221547
    reference: chr 1
allele count: 1
allele frequency: 1.175115748901267e-5
allele num: 85098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000420548
  ensembl transcript: ENST00000470022
  gene symbol: SCNN1D
  hgvsc: ENST00000470022.1:c.416T>C
  hgvsp: ENSP00000420548.1:p.Leu139Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.800T>C
  hgvsp: ENSP00000368411.5:p.Leu267Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.308T>C
  hgvsp: ENSP00000383717.3:p.Leu103Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.706T>C
  hgvsp: ENSP00000449804.1:p.Trp236Arg
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.308T>C
  hgvsp: ENSP00000339504.2:p.Leu103Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.506T>C
  hgvsp: ENSP00000321594.8:p.Leu169Pro
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu267Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-1221557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1221557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1221557
    reference: chr 1
allele count: 2
allele frequency: 2.413418607457464e-5
allele num: 82870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.318C>G
  hgvsp: ENST00000338555.2:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.810C>G
  hgvsp: ENST00000379116.5:c.810C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.516C>G
  hgvsp: ENST00000325425.8:c.516C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.716C>G
  hgvsp: ENSP00000449804.1:p.Ser239Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.318C>G
  hgvsp: ENST00000400928.3:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser239Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27372
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.939447383891828e-4
allele num: 3402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.869058860560277e-5
allele num: 12708
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 4.29397e5

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 5.988e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.513826043237808e-4
allele num: 3978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 4.20537e5

FS
type: SiteQuality
SIO_000300: 1.792e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.161e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.23e-2

MQ
type: SiteQuality
SIO_000300: 5.805e1

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 4.20537e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

VQSLOD
type: SiteQuality
SIO_000300: -8.161e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.23e-2

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
SIO_000300: 1.792e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

GenotypeQuality
all individuals: 18863
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 1
allele frequency: 6.009615384615385e-4
allele num: 1664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.839926402943882e-4
allele num: 10870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4380
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

FS
type: SiteQuality
SIO_000300: 8.994e0

VQSLOD
type: SiteQuality
SIO_000300: -8.048999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.21493e5

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19007
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26013
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.718854592785422e-4
allele num: 10756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.212389380530973e-4
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.97e-2

FS
type: SiteQuality
SIO_000300: 7.997e0

DP
type: SiteQuality
SIO_000300: 4.24863e5

QD
type: SiteQuality
SIO_000300: 1.079e1

GenotypeQuality
all individuals: 1547
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20957
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.986491855383393e-4
allele num: 10068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 4.2344e5

QD
type: SiteQuality
SIO_000300: 6.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 2.948e0

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
all individuals: 1139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2891
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 4.2512e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

GenotypeQuality
all individuals: 257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3553
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21120
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.398601398601399e-3
allele num: 1430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.095996646405366e-4
allele num: 9542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 7.845e0

VQSLOD
type: SiteQuality
SIO_000300: -8.802e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.68e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 4.27958e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

GenotypeQuality
all individuals: 1132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22592
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.69e0

DP
type: SiteQuality
SIO_000300: 4.23313e5

QD
type: SiteQuality
SIO_000300: 1.645e1

MQ
type: SiteQuality
SIO_000300: 4.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22424
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.417635384179189e-4
allele num: 7054
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 4.24069e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 3934
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 6.05766900896535e-4
allele num: 8254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 4.27842e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.328e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.971e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.125e1

GenotypeQuality
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.854368932038835e-3
allele num: 206
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.3513e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

VQSLOD
type: SiteQuality
SIO_000300: -1.562e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
all individuals: 119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22340
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.807692307692308e-4
allele num: 2080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.491e-1

FS
type: SiteQuality
SIO_000300: 6.576e0

DP
type: SiteQuality
SIO_000300: 4.49098e5

MQ
type: SiteQuality
SIO_000300: 5.788e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: -2.273e0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21913
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.196744853997128e-4
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.867e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.42e-2

DP
type: SiteQuality
SIO_000300: 4.55377e5

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

QD
type: SiteQuality
SIO_000300: 1.819e1

GenotypeQuality
all individuals: 93
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.139e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.59519e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.5662100456621e-4
allele num: 2190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.05e1

MQ
type: SiteQuality
SIO_000300: 5.804e1

DP
type: SiteQuality
SIO_000300: 4.63466e5

VQSLOD
type: SiteQuality
SIO_000300: -1.608e0

GenotypeQuality
all individuals: 1784
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19939
bin: 7.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1108
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.295336787564767e-3
allele num: 8492
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.72519e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 2.113e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

GenotypeQuality
all individuals: 4075
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19648
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 19897
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.77663e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.501e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 2.083e1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.87902e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

QD
type: SiteQuality
SIO_000300: 1.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

VQSLOD
type: SiteQuality
SIO_000300: -2.114e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1292
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.92e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

DP
type: SiteQuality
SIO_000300: 4.92362e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.9837e5

VQSLOD
type: SiteQuality
SIO_000300: -2.919e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 3388
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2396
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.02772e5

GenotypeQuality
all individuals: 1338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6763
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 71

GenotypeQuality
all individuals: 324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 3
allele frequency: 2.205882352941176e-3
allele num: 1360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 67
allele frequency: 6.395570828560519e-3
allele num: 10476
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.0e-4
allele num: 1250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 6.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 5.09368e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7283
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 2.363e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 5.43946e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 1

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.841121495327102e-4
allele num: 1712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.603e1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 5.51712e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.82321455880104e-4
allele num: 13078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.435006435006435e-4
allele num: 1554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

DP
type: SiteQuality
SIO_000300: 5.55738e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.355e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

GenotypeQuality
all individuals: 7571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 685
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variant carriers: 0

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 2

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 577
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GenotypeQuality
all individuals: 8
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.59027e5

FS
type: SiteQuality
SIO_000300: 4.102e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.373e-1

QD
type: SiteQuality
SIO_000300: 1.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.113089937666963e-4
allele num: 8984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.629629629629629e-3
allele num: 216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 7.197e0

QD
type: SiteQuality
SIO_000300: 1.733e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.61544e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 32073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.394433129667345e-4
allele num: 2946
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

QD
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 5.6464e5

FS
type: SiteQuality
SIO_000300: 2.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.516e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 3.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.98535e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

GenotypeQuality
all individuals: 34349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.07114e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 1.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 416
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.5e0
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GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.342245989304813e-4
allele num: 2992
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.428363283147159e-4
allele num: 4118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

FS
type: SiteQuality
SIO_000300: 1.676e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

DP
type: SiteQuality
SIO_000300: 6.76551e5

VQSLOD
type: SiteQuality
SIO_000300: -2.895e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e0

QD
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
all individuals: 746
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1327
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variant carriers: 0

GenotypeQuality
all individuals: 384
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GenotypeQuality
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GenotypeQuality
all individuals: 871
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.071117561683599e-5
allele num: 22048
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 9.603072983354673e-4
allele num: 3124
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.86327e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

QD
type: SiteQuality
SIO_000300: 1.981e1

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 35
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variant carriers: 14

GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 756
bin: 1.25e1
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GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 5.664488017429193e-4
allele num: 22950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.965408805031447e-4
allele num: 10176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 1.192e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 6.99948e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 2046
bin: 2.75e1
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GenotypeQuality
all individuals: 207
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GenotypeQuality
all individuals: 16692
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GenotypeQuality
all individuals: 372
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GenotypeQuality
all individuals: 47
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27996
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.110288675055514e-3
allele num: 10808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.857e0

DP
type: SiteQuality
SIO_000300: 7.66222e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

FS
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

GenotypeQuality
all individuals: 1095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 2695
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GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 2028
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GenotypeQuality
all individuals: 445
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 2104
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GenotypeQuality
all individuals: 4
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.413127413127413e-4
allele num: 4144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.396258028483664e-4
allele num: 28648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.7492e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

FS
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
all individuals: 565
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.5e0
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GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29663
bin: 2.25e1
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GenotypeQuality
all individuals: 496
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GenotypeQuality
all individuals: 83
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variant carriers: 37

GenotypeQuality
all individuals: 213
bin: 7.25e1
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GenotypeQuality
all individuals: 588
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 32
allele frequency: 6.237816764132553e-3
allele num: 5130
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.325581395348837e-4
allele num: 4300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.362676296245827e-4
allele num: 29354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 7.87319e5

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.406690740614567e-5
allele num: 29354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

DP
type: SiteQuality
SIO_000300: 7.87319e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.75e1
variant carriers: 25

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29354
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 2.36707938820102e-3
allele num: 10984
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 7.87319e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

GenotypeQuality
all individuals: 1941
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 313
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.298588204248581e-5
allele num: 30316
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

DP
type: SiteQuality
SIO_000300: 7.96263e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 2.199e0

VQSLOD
type: SiteQuality
SIO_000300: -2.904e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

QD
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 2199
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variant carriers: 0

GenotypeQuality
all individuals: 1873
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 582
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.249921879882507e-4
allele num: 32002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.637e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

DP
type: SiteQuality
SIO_000300: 8.20888e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

QD
type: SiteQuality
SIO_000300: 1.087e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 522
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1893
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variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 537
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.849796522382538e-4
allele num: 5406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.53482e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.531e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

FS
type: SiteQuality
SIO_000300: 3.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 6.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
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variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.548158011540169e-5
allele num: 36048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 8.75785e5

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 6.72e0

FS
type: SiteQuality
SIO_000300: 1.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.72e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.878e1

FS
type: SiteQuality
SIO_000300: 1.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 8.75785e5

GenotypeQuality
all individuals: 1923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.570449091532397e-5
allele num: 11668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 8.82381e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

African
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: 5254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.415651232060655e-5
allele num: 36930
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.958e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

FS
type: SiteQuality
SIO_000300: 1.757e0

DP
type: SiteQuality
SIO_000300: 8.90723e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 626
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 6.653359946773121e-4
allele num: 6012
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.687194196051965e-4
allele num: 11854
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Other
type: Population
allele count: 1
allele frequency: 2.008032128514056e-3
allele num: 498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38100
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.668335001668335e-4
allele num: 5994
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.07213e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

QD
type: SiteQuality
SIO_000300: 8.23e0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.649620587264929e-3
allele num: 6062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.763975155279503e-5
allele num: 38640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11892
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.17242e5

FS
type: SiteQuality
SIO_000300: 2.482e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.19e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26525
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.439619419370578e-5
allele num: 40990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.715e-1

FS
type: SiteQuality
SIO_000300: 2.005e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 3.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

DP
type: SiteQuality
SIO_000300: 9.45907e5

GenotypeQuality
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 696
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12178
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.61125e5

QD
type: SiteQuality
SIO_000300: 2.446e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.311e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
all individuals: 1265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.290740825582994e-5
allele num: 43654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.335e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.79461e5

GenotypeQuality
all individuals: 1510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.736e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.652e0

FS
type: SiteQuality
SIO_000300: 3.522e0

DP
type: SiteQuality
SIO_000300: 9.84586e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 3.52e0

GenotypeQuality
all individuals: 20247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1163
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.434720229555237e-4
allele num: 6970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.257336343115124e-5
allele num: 44300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.33667000333667e-4
allele num: 5994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 6.088e0

DP
type: SiteQuality
SIO_000300: 9.93672e5

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 1407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.698224852071006e-4
allele num: 2704
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.000875e6

FS
type: SiteQuality
SIO_000300: 3.981e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30535
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.823144104803493e-4
allele num: 7328
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 5.357142857142857e-3
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 7.164879065526075e-4
allele num: 46058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

South Asian
type: Population
allele count: 124
allele frequency: 9.810126582278481e-3
allele num: 12640
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.798e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.023081e6

MQ
type: SiteQuality
SIO_000300: 6.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 1

GenotypeQuality
all individuals: 1286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18585
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.582278481012658e-4
allele num: 6320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.024855e6

QD
type: SiteQuality
SIO_000300: 9.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.75e1
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GenotypeQuality
all individuals: 31
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variant carriers: 8

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
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GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2104
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.30821559392988e-4
allele num: 7644
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 8.600917431192661e-4
allele num: 6976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.038186e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: -6.667e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.093626999413784e-5
allele num: 47764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.112356053532524e-4
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 1.1346e1

VQSLOD
type: SiteQuality
SIO_000300: -1.184e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 1.040801e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 555
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32444
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1031
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 5.38770773757719e-4
allele num: 48258
num of homozygotes: 1

African
type: Population
allele count: 9
allele frequency: 1.269393511988717e-3
allele num: 7090
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.706484641638225e-3
allele num: 586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 1.04958e6

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32759
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.403705783267827e-4
allele num: 7124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.693e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

FS
type: SiteQuality
SIO_000300: 1.4734e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 9.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.006e0

DP
type: SiteQuality
SIO_000300: 1.052939e6

GenotypeQuality
all individuals: 1254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.044404464979352e-5
allele num: 48914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.128e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.057383e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1053
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.030869212022746e-5
allele num: 49240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.499e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 4.137e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.064449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 4.9e0

GenotypeQuality
all individuals: 1927
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.231527093596059e-4
allele num: 8120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 1.596e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.05062e6

QD
type: SiteQuality
SIO_000300: 3.424e1

GenotypeQuality
all individuals: 17242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29060
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.02657539762432e-5
allele num: 49670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.051414e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.236e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

VQSLOD
type: SiteQuality
SIO_000300: -1.209e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.653451706719731e-5
allele num: 13066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.414e0

QD
type: SiteQuality
SIO_000300: 1.812e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.034023e6

VQSLOD
type: SiteQuality
SIO_000300: -1.867e-1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26759
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.398992725237829e-4
allele num: 7148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.02166e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 2417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26759
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.93788472299944e-3
allele num: 7148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.033429582333564e-5
allele num: 49178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.679311933650745e-5
allele num: 13022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 1.02166e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.128e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
all individuals: 660
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.247193813918683e-4
allele num: 8018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.03533338760889e-5
allele num: 49132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3140
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: -7.92e-1

QD
type: SiteQuality
SIO_000300: 9.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 1.017465e6

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1022
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.695859627520394e-5
allele num: 12994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49206
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.400560224089636e-4
allele num: 7140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.018557e6

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 5.367e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 660
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18756
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.211303789338471e-4
allele num: 3114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 9.30809804529941e-4
allele num: 6446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 4.487780996287381e-4
allele num: 49022
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 1.015152e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 750
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.415227851684121e-4
allele num: 7066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3076
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.563e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 9.95742e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.296e0

FS
type: SiteQuality
SIO_000300: 1.631e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6914
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.830853563038371e-5
allele num: 12770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.588e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.054e1

VQSLOD
type: SiteQuality
SIO_000300: -6.388e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.63919e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0