1-1226615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226615
    reference: chr 1
allele count: 17
allele frequency: 4.920690054417043e-4
allele num: 34548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-19A>G
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-19A>G
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-19A>G
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-19A>G
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-19A>G
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28462
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12591
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27347
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-1226618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226618
    reference: chr 1
allele count: 1
allele frequency: 2.9356505401597e-5
allele num: 34064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-16C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-16C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-16C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-16C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-16C>T
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28754
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-1226619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226619
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226619
    reference: chr 1
allele count: 6
allele frequency: 1.780098498783599e-4
allele num: 33706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-15G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-15G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-15G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-15G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-15G>A
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-1226619-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226619
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226619
    reference: chr 1
allele count: 1
allele frequency: 2.966830831305999e-5
allele num: 33706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-15G>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-15G>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-15G>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-15G>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-15G>T
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28842
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-1226628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226628
    reference: chr 1
allele count: 9
allele frequency: 2.695740729647158e-4
allele num: 33386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-6C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-6C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-6C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-6C>T
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-6C>T
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29478
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2053-6C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-1226630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226630
    reference: chr 1
allele count: 13
allele frequency: 3.863987635239567e-4
allele num: 33644
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-4G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-4G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-4G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-4G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-4G>A
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29637
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11598
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11813
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2053-4G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-1226631-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226630
    reference: chr 1
allele count: 2
allele frequency: 5.828524800373026e-5
allele num: 34314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-2delA
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-2delA
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-2delA
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-2delA
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-2delA
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29768
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 161
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genotype quality: GenotypeQuality
  all individuals: 1124
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2053-2delA
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: CA
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-1226633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226633
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226633
    reference: chr 1
allele count: 1
allele frequency: 2.864672854360032e-5
allele num: 34908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972-1G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561-1G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561-1G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759-1G>A
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053-1G>A
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2053-1G>A
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-1226634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226634
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 34902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1561G>A
  hgvsp: ENSP00000339504.2:p.Val521Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1759G>A
  hgvsp: ENSP00000321594.8:p.Val587Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2053G>A
  hgvsp: ENSP00000368411.5:p.Val685Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1561G>A
  hgvsp: ENSP00000383717.3:p.Val521Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*972G>A
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30104
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val685Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-1226639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226639
    reference: chr 1
allele count: 36
allele frequency: 1.030337721808815e-3
allele num: 34940
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.2058G>A
  hgvsp: ENST00000379116.5:c.2058G>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.1566G>A
  hgvsp: ENST00000338555.2:c.1566G>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.1566G>A
  hgvsp: ENST00000400928.3:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*977G>A
  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.1764G>A
  hgvsp: ENST00000325425.8:c.1764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 30437
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 13500
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30312
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 1.25e1
  variant carriers: 2
hgvs: p.Pro686Pro
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: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

1-1226650-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226650
    reference: chr 1
allele count: 1
allele frequency: 2.750577621300473e-5
allele num: 36356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1577C>G
  hgvsp: ENSP00000339504.2:p.Ser526Trp
  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.1577C>G
  hgvsp: ENSP00000383717.3:p.Ser526Trp
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*988C>G
  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.1775C>G
  hgvsp: ENSP00000321594.8:p.Ser592Trp
  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.2069C>G
  hgvsp: ENSP00000368411.5:p.Ser690Trp
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser690Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-1226651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226651
    reference: chr 1
allele count: 7
allele frequency: 1.845407571443636e-4
allele num: 37932
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.1578G>A
  hgvsp: ENST00000338555.2:c.1578G>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.2070G>A
  hgvsp: ENST00000379116.5:c.2070G>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.1776G>A
  hgvsp: ENST00000325425.8:c.1776G>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.1578G>A
  hgvsp: ENST00000400928.3:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*989G>A
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30835
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser690Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-1226651-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226651
    reference: chr 1
allele count: 1424
allele frequency: 3.754086259622482e-2
allele num: 37932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*989G>C
  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.1578G>C
  hgvsp: ENST00000400928.3:c.1578G>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.1578G>C
  hgvsp: ENST00000338555.2:c.1578G>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.1776G>C
  hgvsp: ENST00000325425.8:c.1776G>C(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.2070G>C
  hgvsp: ENST00000379116.5:c.2070G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 1.25e1
  variant carriers: 841
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30835
  bin: 7.5e0
  variant carriers: 716
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 30267
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 6.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 6.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 1.25e1
  variant carriers: 22
hgvs: p.Ser690Ser
num of homozygotes: 26
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-1226651-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226651
    reference: chr 1
allele count: 1
allele frequency: 2.636296530633766e-5
allele num: 37932
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.1578G>T
  hgvsp: ENST00000400928.3:c.1578G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*989G>T
  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.1578G>T
  hgvsp: ENST00000338555.2:c.1578G>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.2070G>T
  hgvsp: ENST00000379116.5:c.2070G>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.1776G>T
  hgvsp: ENST00000325425.8:c.1776G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser690Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

1-1226659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226659
    reference: chr 1
allele count: 1
allele frequency: 2.511553144464537e-5
allele num: 39816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1586G>T
  hgvsp: ENSP00000383717.3:p.Gly529Val
  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.2078G>T
  hgvsp: ENSP00000368411.5:p.Gly693Val
  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.1586G>T
  hgvsp: ENSP00000339504.2:p.Gly529Val
  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.1784G>T
  hgvsp: ENSP00000321594.8:p.Gly595Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*997G>T
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30881
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly693Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-1226661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226661
    reference: chr 1
allele count: 1
allele frequency: 2.416276035374281e-5
allele num: 41386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1588A>G
  hgvsp: ENSP00000383717.3:p.Ser530Gly
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*999A>G
  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.1786A>G
  hgvsp: ENSP00000321594.8:p.Ser596Gly
  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.2080A>G
  hgvsp: ENSP00000368411.5:p.Ser694Gly
  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.1588A>G
  hgvsp: ENSP00000339504.2:p.Ser530Gly
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser694Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-1226666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226666
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226666
    reference: chr 1
allele count: 1
allele frequency: 2.314814814814815e-5
allele num: 43200
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.1593C>T
  hgvsp: ENST00000400928.3:c.1593C>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.1791C>T
  hgvsp: ENST00000325425.8:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1004C>T
  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.1593C>T
  hgvsp: ENST00000338555.2:c.1593C>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.2085C>T
  hgvsp: ENST00000379116.5:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu695Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-1226669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226669
    reference: chr 1
allele count: 16
allele frequency: 3.630258202114626e-4
allele num: 44074
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.1596C>T
  hgvsp: ENST00000400928.3:c.1596C>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.1596C>T
  hgvsp: ENST00000338555.2:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1007C>T
  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.2088C>T
  hgvsp: ENST00000379116.5:c.2088C>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.1794C>T
  hgvsp: ENST00000325425.8:c.1794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30820
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys696Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-1226674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226674
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 46516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1799T>C
  hgvsp: ENSP00000321594.8:p.Leu600Pro
  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.1601T>C
  hgvsp: ENSP00000383717.3:p.Leu534Pro
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1012T>C
  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.2093T>C
  hgvsp: ENSP00000368411.5:p.Leu698Pro
  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.1601T>C
  hgvsp: ENSP00000339504.2:p.Leu534Pro
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30571
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu698Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1226675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226675
    reference: chr 1
allele count: 1
allele frequency: 2.121610726863835e-5
allele num: 47134
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2094G>C
  hgvsp: ENST00000379116.5:c.2094G>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.1602G>C
  hgvsp: ENST00000400928.3:c.1602G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1013G>C
  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.1602G>C
  hgvsp: ENST00000338555.2:c.1602G>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.1800G>C
  hgvsp: ENST00000325425.8:c.1800G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13310
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 2.25e1
  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: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu698Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-1226679-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226679
    reference: chr 1
allele count: 3
allele frequency: 6.0960741282614e-5
allele num: 49212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1606T>G
  hgvsp: ENSP00000339504.2:p.Phe536Val
  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.1606T>G
  hgvsp: ENSP00000383717.3:p.Phe536Val
  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.2098T>G
  hgvsp: ENSP00000368411.5:p.Phe700Val
  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.1804T>G
  hgvsp: ENSP00000321594.8:p.Phe602Val
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1017T>G
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe700Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-1226689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226689
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226689
    reference: chr 1
allele count: 1
allele frequency: 1.761493746697199e-5
allele num: 56770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1814C>G
  hgvsp: ENSP00000321594.8:p.Ser605Cys
  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.1616C>G
  hgvsp: ENSP00000383717.3:p.Ser539Cys
  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.2108C>G
  hgvsp: ENSP00000368411.5:p.Ser703Cys
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1027C>G
  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.1616C>G
  hgvsp: ENSP00000339504.2:p.Ser539Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser703Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-1226690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226690
    reference: chr 1
allele count: 1890
allele frequency: 3.199485373781148e-2
allele num: 59072
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.2109C>T
  hgvsp: ENST00000379116.5:c.2109C>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.1617C>T
  hgvsp: ENST00000338555.2:c.1617C>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.1617C>T
  hgvsp: ENST00000400928.3:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1028C>T
  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.1815C>T
  hgvsp: ENST00000325425.8:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 1.25e1
  variant carriers: 510
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.75e1
  variant carriers: 628
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26372
  bin: 7.5e0
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 2.25e1
  variant carriers: 427
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 28596
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 12006
  bin: 6.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 29
hgvs: p.Ser703Ser
num of homozygotes: 22
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-1226691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226691
    reference: chr 1
allele count: 10
allele frequency: 1.634521085322001e-4
allele num: 61180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1029G>A
  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.1618G>A
  hgvsp: ENSP00000383717.3:p.Val540Ile
  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.1816G>A
  hgvsp: ENSP00000321594.8:p.Val606Ile
  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.1618G>A
  hgvsp: ENSP00000339504.2:p.Val540Ile
  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.2110G>A
  hgvsp: ENSP00000368411.5:p.Val704Ile
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25685
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val704Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1226692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226692
    reference: chr 1
allele count: 2
allele frequency: 3.216985684413704e-5
allele num: 62170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1817T>C
  hgvsp: ENSP00000321594.8:p.Val606Ala
  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.1619T>C
  hgvsp: ENSP00000339504.2:p.Val540Ala
  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.2111T>C
  hgvsp: ENSP00000368411.5:p.Val704Ala
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1030T>C
  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.1619T>C
  hgvsp: ENSP00000383717.3:p.Val540Ala
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25423
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val704Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-1226699-CCTCCTGGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226690
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 69128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  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
  hgvsp: ENSP00000339504.2:p.Glu548_Leu550del
  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
  hgvsp: ENSP00000321594.8:p.Glu614_Leu616del
  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
  hgvsp: ENSP00000368411.5:p.Glu712_Leu714del
  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
  hgvsp: ENSP00000383717.3:p.Glu548_Leu550del
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19578
  bin: 2.25e1
  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: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu712_Leu714del
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CCTCCTGGAG
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

1-1226700-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226700
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226701
    reference: chr 1
allele count: 1
allele frequency: 1.443251356656275e-5
allele num: 69288
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2120dupT
  hgvsp: ENSP00000368411.5:p.Leu708ProfsTer58
  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.1628dupT
  hgvsp: ENSP00000339504.2:p.Leu544ProfsTer58
  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.1628dupT
  hgvsp: ENSP00000383717.3:p.Leu544ProfsTer58
  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.1826dupT
  hgvsp: ENSP00000321594.8:p.Leu610ProfsTer58
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1039dupT
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23769
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu708ProfsTer58
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-1226713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226713
    reference: chr 1
allele count: 1
allele frequency: 1.257893280334097e-5
allele num: 79498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1051T>C
  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.1838T>C
  hgvsp: ENSP00000321594.8:p.Leu613Pro
  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.1640T>C
  hgvsp: ENSP00000339504.2:p.Leu547Pro
  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.1640T>C
  hgvsp: ENSP00000383717.3:p.Leu547Pro
  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.2132T>C
  hgvsp: ENSP00000368411.5:p.Leu711Pro
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu711Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-1226727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226727
    reference: chr 1
allele count: 2
allele frequency: 2.271694684234439e-5
allele num: 88040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1065G>A
  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.1654G>A
  hgvsp: ENSP00000383717.3:p.Asp552Asn
  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.1852G>A
  hgvsp: ENSP00000321594.8:p.Asp618Asn
  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.1654G>A
  hgvsp: ENSP00000339504.2:p.Asp552Asn
  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.2146G>A
  hgvsp: ENSP00000368411.5:p.Asp716Asn
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp716Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-1226727-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226727
    reference: chr 1
allele count: 1
allele frequency: 1.135847342117219e-5
allele num: 88040
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.2146G>C
  hgvsp: ENSP00000368411.5:p.Asp716His
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1065G>C
  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.1654G>C
  hgvsp: ENSP00000339504.2:p.Asp552His
  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.1852G>C
  hgvsp: ENSP00000321594.8:p.Asp618His
  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.1654G>C
  hgvsp: ENSP00000383717.3:p.Asp552His
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp716His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-1226729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226729
    reference: chr 1
allele count: 1
allele frequency: 1.118468146027201e-5
allele num: 89408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2148T>C
  hgvsp: ENST00000379116.5:c.2148T>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.1656T>C
  hgvsp: ENST00000338555.2:c.1656T>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.1854T>C
  hgvsp: ENST00000325425.8:c.1854T>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.1656T>C
  hgvsp: ENST00000400928.3:c.1656T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1067T>C
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp716Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-1226734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226734
    reference: chr 1
allele count: 15
allele frequency: 1.647446457990115e-4
allele num: 91050
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.2153C>T
  hgvsp: ENSP00000368411.5:p.Ser718Phe
  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.1661C>T
  hgvsp: ENSP00000339504.2:p.Ser554Phe
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1072C>T
  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.1661C>T
  hgvsp: ENSP00000383717.3:p.Ser554Phe
  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.1859C>T
  hgvsp: ENSP00000321594.8:p.Ser620Phe
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30617
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser718Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1226738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226738
    reference: chr 1
allele count: 2
allele frequency: 2.161788231224869e-5
allele num: 92516
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.1665C>T
  hgvsp: ENST00000400928.3:c.1665C>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.2157C>T
  hgvsp: ENST00000379116.5:c.2157C>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.1665C>T
  hgvsp: ENST00000338555.2:c.1665C>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.1863C>T
  hgvsp: ENST00000325425.8:c.1863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1076C>T
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30743
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala719Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-1226748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226748
    reference: chr 1
allele count: 6
allele frequency: 6.327645483115732e-5
allele num: 94822
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.1675G>A
  hgvsp: ENSP00000339504.2:p.Val559Met
  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.1873G>A
  hgvsp: ENSP00000321594.8:p.Val625Met
  variant of: http://identifiers.org/hgnc/10601
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1086G>A
  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.2167G>A
  hgvsp: ENSP00000368411.5:p.Val723Met
  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.1675G>A
  hgvsp: ENSP00000383717.3:p.Val559Met
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29183
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val723Met
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-1226752-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226752
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226752
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 95264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000449804
  ensembl transcript: ENST00000379101
  gene symbol: SCNN1D
  hgvsc: ENST00000379101.4:c.*1090T>C
  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.1679T>C
  hgvsp: ENSP00000339504.2:p.Leu560Pro
  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.1679T>C
  hgvsp: ENSP00000383717.3:p.Leu560Pro
  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.1877T>C
  hgvsp: ENSP00000321594.8:p.Leu626Pro
  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.2171T>C
  hgvsp: ENSP00000368411.5:p.Leu724Pro
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12334
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu724Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-1226756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226756
    reference: chr 1
allele count: 2
allele frequency: 2.101590904314566e-5
allele num: 95166
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.1683C>T
  hgvsp: ENST00000338555.2:c.1683C>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.1881C>T
  hgvsp: ENST00000325425.8:c.1881C>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.2175C>T
  hgvsp: ENST00000379116.5:c.2175C>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.1683C>T
  hgvsp: ENST00000400928.3:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26755
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly725Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-1226757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226757
    reference: chr 1
allele count: 8898
allele frequency: 9.034970147435116e-2
allele num: 98484
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.1684G>A
  hgvsp: ENSP00000383717.3:p.Gly562Ser
  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.2176G>A
  hgvsp: ENSP00000368411.5:p.Gly726Ser
  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.1882G>A
  hgvsp: ENSP00000321594.8:p.Gly628Ser
  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.1684G>A
  hgvsp: ENSP00000339504.2:p.Gly562Ser
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 2.75e1
  variant carriers: 1559
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 994
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 24769
  bin: 2.25e1
  variant carriers: 2046
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.75e1
  variant carriers: 1818
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 1.25e1
  variant carriers: 1014
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 7.5e0
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 25668
  bin: 6.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 10208
  bin: 2.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 2.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 6.75e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 91
hgvs: p.Gly726Ser
num of homozygotes: 463
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

1-1226760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226760
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226760
    reference: chr 1
allele count: 3
allele frequency: 3.056670674301551e-5
allele num: 98146
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.1885C>T
  hgvsp: ENSP00000321594.8:p.Arg629Cys
  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.1687C>T
  hgvsp: ENSP00000339504.2:p.Arg563Cys
  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.1687C>T
  hgvsp: ENSP00000383717.3:p.Arg563Cys
  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.2179C>T
  hgvsp: ENSP00000368411.5:p.Arg727Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg727Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-1226761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226761
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226761
    reference: chr 1
allele count: 13
allele frequency: 1.322589834371058e-4
allele num: 98292
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.1688G>A
  hgvsp: ENSP00000383717.3:p.Arg563His
  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.1688G>A
  hgvsp: ENSP00000339504.2:p.Arg563His
  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.1886G>A
  hgvsp: ENSP00000321594.8:p.Arg629His
  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.2180G>A
  hgvsp: ENSP00000368411.5:p.Arg727His
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23639
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg727His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

1-1226763-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226763
    reference: chr 1
allele count: 1
allele frequency: 1.013602546169596e-5
allele num: 98658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1888C>G
  hgvsp: ENSP00000321594.8:p.Arg630Gly
  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.1690C>G
  hgvsp: ENSP00000383717.3:p.Arg564Gly
  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.1690C>G
  hgvsp: ENSP00000339504.2:p.Arg564Gly
  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.2182C>G
  hgvsp: ENSP00000368411.5:p.Arg728Gly
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  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 depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg728Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-1226763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226763
    reference: chr 1
allele count: 6
allele frequency: 6.081615277017576e-5
allele num: 98658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1690C>T
  hgvsp: ENSP00000383717.3:p.Arg564Trp
  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.1690C>T
  hgvsp: ENSP00000339504.2:p.Arg564Trp
  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.1888C>T
  hgvsp: ENSP00000321594.8:p.Arg630Trp
  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.2182C>T
  hgvsp: ENSP00000368411.5:p.Arg728Trp
  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: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23569
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg728Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-1226764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226764
    reference: chr 1
allele count: 21
allele frequency: 2.134536805513204e-4
allele num: 98382
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.2183G>A
  hgvsp: ENSP00000368411.5:p.Arg728Gln
  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.1889G>A
  hgvsp: ENSP00000321594.8:p.Arg630Gln
  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.1691G>A
  hgvsp: ENSP00000339504.2:p.Arg564Gln
  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.1691G>A
  hgvsp: ENSP00000383717.3:p.Arg564Gln
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11283
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg728Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-1226764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226764
    reference: chr 1
allele count: 1
allele frequency: 1.01644609786343e-5
allele num: 98382
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.1889G>T
  hgvsp: ENSP00000321594.8:p.Arg630Leu
  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.2183G>T
  hgvsp: ENSP00000368411.5:p.Arg728Leu
  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.1691G>T
  hgvsp: ENSP00000383717.3:p.Arg564Leu
  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.1691G>T
  hgvsp: ENSP00000339504.2:p.Arg564Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg728Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-1226769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226769
    reference: chr 1
allele count: 16
allele frequency: 1.618712314353932e-4
allele num: 98844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1696C>T
  hgvsp: ENSP00000383717.3:p.Arg566Cys
  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.1696C>T
  hgvsp: ENSP00000339504.2:p.Arg566Cys
  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.1894C>T
  hgvsp: ENSP00000321594.8:p.Arg632Cys
  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.2188C>T
  hgvsp: ENSP00000368411.5:p.Arg730Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23539
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg730Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-1226770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226770
    reference: chr 1
allele count: 28
allele frequency: 2.843159155987896e-4
allele num: 98482
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.1697G>A
  hgvsp: ENSP00000383717.3:p.Arg566His
  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.2189G>A
  hgvsp: ENSP00000368411.5:p.Arg730His
  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.1895G>A
  hgvsp: ENSP00000321594.8:p.Arg632His
  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.1697G>A
  hgvsp: ENSP00000339504.2:p.Arg566His
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23377
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg730His
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1226770-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226770
    reference: chr 1
allele count: 1
allele frequency: 1.015413984281392e-5
allele num: 98482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1697G>T
  hgvsp: ENSP00000383717.3:p.Arg566Leu
  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.1697G>T
  hgvsp: ENSP00000339504.2:p.Arg566Leu
  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.2189G>T
  hgvsp: ENSP00000368411.5:p.Arg730Leu
  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.1895G>T
  hgvsp: ENSP00000321594.8:p.Arg632Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23377
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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 quality: GenotypeQuality
  all individuals: 57
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 662
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11431
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg730Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-1226771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226771
    reference: chr 1
allele count: 13
allele frequency: 1.313423184950191e-4
allele num: 98978
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.2190C>T
  hgvsp: ENST00000379116.5:c.2190C>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.1896C>T
  hgvsp: ENST00000325425.8:c.1896C>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.1698C>T
  hgvsp: ENST00000400928.3:c.1698C>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.1698C>T
  hgvsp: ENST00000338555.2:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23618
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11591
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genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg730Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-1226776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226776
    reference: chr 1
allele count: 60
allele frequency: 6.040836051709556e-4
allele num: 99324
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.2195C>T
  hgvsp: ENSP00000368411.5:p.Ala732Val
  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.1703C>T
  hgvsp: ENSP00000383717.3:p.Ala568Val
  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.1703C>T
  hgvsp: ENSP00000339504.2:p.Ala568Val
  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.1901C>T
  hgvsp: ENSP00000321594.8:p.Ala634Val
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23282
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11629
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26521
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ala732Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-1226777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226777
    reference: chr 1
allele count: 28
allele frequency: 2.814296626864471e-4
allele num: 99492
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.1704G>A
  hgvsp: ENST00000338555.2:c.1704G>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.1902G>A
  hgvsp: ENST00000325425.8:c.1902G>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.2196G>A
  hgvsp: ENST00000379116.5:c.2196G>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.1704G>A
  hgvsp: ENST00000400928.3:c.1704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23464
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala732Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-1226779-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226779
    reference: chr 1
allele count: 6
allele frequency: 6.027122049221497e-5
allele num: 99550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000321594
  ensembl transcript: ENST00000325425
  gene symbol: SCNN1D
  hgvsc: ENST00000325425.8:c.1904G>C
  hgvsp: ENSP00000321594.8:p.Trp635Ser
  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.1706G>C
  hgvsp: ENSP00000383717.3:p.Trp569Ser
  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.1706G>C
  hgvsp: ENSP00000339504.2:p.Trp569Ser
  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.2198G>C
  hgvsp: ENSP00000368411.5:p.Trp733Ser
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp733Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-1226785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226785
    reference: chr 1
allele count: 1
allele frequency: 1.002265119169323e-5
allele num: 99774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1712C>T
  hgvsp: ENSP00000383717.3:p.Ser571Phe
  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.2204C>T
  hgvsp: ENSP00000368411.5:p.Ser735Phe
  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.1712C>T
  hgvsp: ENSP00000339504.2:p.Ser571Phe
  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.1910C>T
  hgvsp: ENSP00000321594.8:p.Ser637Phe
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25477
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser735Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-1226789-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226789
    reference: chr 1
allele count: 2
allele frequency: 2.004088340214037e-5
allele num: 99796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1716G>T
  hgvsp: ENSP00000383717.3:p.Trp572Cys
  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.1914G>T
  hgvsp: ENSP00000321594.8:p.Trp638Cys
  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.2208G>T
  hgvsp: ENSP00000368411.5:p.Trp736Cys
  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.1716G>T
  hgvsp: ENSP00000339504.2:p.Trp572Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23905
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp736Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-1226790-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226790
    reference: chr 1
allele count: 1
allele frequency: 1.001943770915576e-5
allele num: 99806
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.1915C>A
  hgvsp: ENSP00000321594.8:p.Pro639Thr
  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.2209C>A
  hgvsp: ENSP00000368411.5:p.Pro737Thr
  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.1717C>A
  hgvsp: ENSP00000339504.2:p.Pro573Thr
  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.1717C>A
  hgvsp: ENSP00000383717.3:p.Pro573Thr
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 613
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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genotype quality: GenotypeQuality
  all individuals: 2661
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23315
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 189
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genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro737Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-1226790-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226790
    reference: chr 1
allele count: 4
allele frequency: 4.007775083662305e-5
allele num: 99806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1717C>G
  hgvsp: ENSP00000383717.3:p.Pro573Ala
  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.1717C>G
  hgvsp: ENSP00000339504.2:p.Pro573Ala
  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.1915C>G
  hgvsp: ENSP00000321594.8:p.Pro639Ala
  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.2209C>G
  hgvsp: ENSP00000368411.5:p.Pro737Ala
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20955
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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genotype quality: GenotypeQuality
  all individuals: 1636
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro737Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

1-1226792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226792
    reference: chr 1
allele count: 6
allele frequency: 6.006607267994794e-5
allele num: 99890
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.2211C>T
  hgvsp: ENST00000379116.5:c.2211C>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.1719C>T
  hgvsp: ENST00000400928.3:c.1719C>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.1719C>T
  hgvsp: ENST00000338555.2:c.1719C>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.1917C>T
  hgvsp: ENST00000325425.8:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 7884
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genotype depth: GenotypeDepth
  all individuals: 37
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro737Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1226797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226797
    reference: chr 1
allele count: 213
allele frequency: 2.134268537074148e-3
allele num: 99800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1724C>G
  hgvsp: ENSP00000383717.3:p.Ala575Gly
  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.1724C>G
  hgvsp: ENSP00000339504.2:p.Ala575Gly
  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.2216C>G
  hgvsp: ENSP00000368411.5:p.Ala739Gly
  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.1922C>G
  hgvsp: ENSP00000321594.8:p.Ala641Gly
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 19957
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.75e1
  variant carriers: 210
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19926
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala739Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-1226797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226797
    reference: chr 1
allele count: 5
allele frequency: 5.01002004008016e-5
allele num: 99800
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.1724C>T
  hgvsp: ENSP00000339504.2:p.Ala575Val
  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.1724C>T
  hgvsp: ENSP00000383717.3:p.Ala575Val
  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.1922C>T
  hgvsp: ENSP00000321594.8:p.Ala641Val
  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.2216C>T
  hgvsp: ENSP00000368411.5:p.Ala739Val
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala739Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-1226800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226800
    reference: chr 1
allele count: 1
allele frequency: 9.995402115027087e-6
allele num: 100046
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.1727G>A
  hgvsp: ENSP00000339504.2:p.Ser576Asn
  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.2219G>A
  hgvsp: ENSP00000368411.5:p.Ser740Asn
  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.1925G>A
  hgvsp: ENSP00000321594.8:p.Ser642Asn
  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.1727G>A
  hgvsp: ENSP00000383717.3:p.Ser576Asn
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  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: 8395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser740Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-1226804-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226804
    reference: chr 1
allele count: 1
allele frequency: 9.925558312655088e-6
allele num: 100750
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.2223T>G
  hgvsp: ENST00000379116.5:c.2223T>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.1929T>G
  hgvsp: ENST00000325425.8:c.1929T>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.1731T>G
  hgvsp: ENST00000400928.3:c.1731T>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.1731T>G
  hgvsp: ENST00000338555.2:c.1731T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro741Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-1226809-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226807
    reference: chr 1
allele count: 3
allele frequency: 2.978968482513455e-5
allele num: 100706
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000368411
  ensembl transcript: ENST00000379116
  gene symbol: SCNN1D
  hgvsc: ENST00000379116.5:c.2229_2230delAG
  hgvsp: ENSP00000368411.5:p.Ala745ValfsTer20
  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.1737_1738delAG
  hgvsp: ENSP00000383717.3:p.Ala581ValfsTer20
  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.1737_1738delAG
  hgvsp: ENSP00000339504.2:p.Ala581ValfsTer20
  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.1935_1936delAG
  hgvsp: ENSP00000321594.8:p.Ala647ValfsTer20
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  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: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala745ValfsTer20
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CAG
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-1226813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226813
    reference: chr 1
allele count: 2
allele frequency: 1.969550745474957e-5
allele num: 101546
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.1938G>A
  hgvsp: ENST00000325425.8:c.1938G>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.1740G>A
  hgvsp: ENST00000400928.3:c.1740G>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.2232G>A
  hgvsp: ENST00000379116.5:c.2232G>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.1740G>A
  hgvsp: ENST00000338555.2:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly744Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-1226815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226815
    reference: chr 1
allele count: 6
allele frequency: 5.911563017261764e-5
allele num: 101496
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.1742C>T
  hgvsp: ENSP00000339504.2:p.Ala581Val
  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.2234C>T
  hgvsp: ENSP00000368411.5:p.Ala745Val
  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.1940C>T
  hgvsp: ENSP00000321594.8:p.Ala647Val
  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.1742C>T
  hgvsp: ENSP00000383717.3:p.Ala581Val
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21951
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala745Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-1226816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226816
    reference: chr 1
allele count: 111
allele frequency: 1.090073457202341e-3
allele num: 101828
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.2235G>A
  hgvsp: ENST00000379116.5:c.2235G>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.1941G>A
  hgvsp: ENST00000325425.8:c.1941G>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.1743G>A
  hgvsp: ENST00000400928.3:c.1743G>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.1743G>A
  hgvsp: ENST00000338555.2:c.1743G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 3
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: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22485
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala745Ala
num of homozygotes: 1
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-1226818-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226818
    reference: chr 1
allele count: 2
allele frequency: 1.954843123839312e-5
allele num: 102310
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.2237C>G
  hgvsp: ENSP00000368411.5:p.Ser746Cys
  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.1943C>G
  hgvsp: ENSP00000321594.8:p.Ser648Cys
  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.1745C>G
  hgvsp: ENSP00000383717.3:p.Ser582Cys
  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.1745C>G
  hgvsp: ENSP00000339504.2:p.Ser582Cys
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser746Cys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-1226820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226820
    reference: chr 1
allele count: 1
allele frequency: 9.7492493078033e-6
allele num: 102572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000339504
  ensembl transcript: ENST00000338555
  gene symbol: SCNN1D
  hgvsc: ENST00000338555.2:c.1747A>G
  hgvsp: ENSP00000339504.2:p.Ser583Gly
  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.1945A>G
  hgvsp: ENSP00000321594.8:p.Ser649Gly
  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.1747A>G
  hgvsp: ENSP00000383717.3:p.Ser583Gly
  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.2239A>G
  hgvsp: ENSP00000368411.5:p.Ser747Gly
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser747Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-1226834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226834
    reference: chr 1
allele count: 36
allele frequency: 3.458545489480257e-4
allele num: 104090
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.1761G>A
  hgvsp: ENST00000400928.3:c.1761G>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.2253G>A
  hgvsp: ENST00000379116.5:c.2253G>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.1761G>A
  hgvsp: ENST00000338555.2:c.1761G>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.1959G>A
  hgvsp: ENST00000325425.8:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25814
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu751Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-1226836-CCAGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226832
    reference: chr 1
allele count: 2
allele frequency: 1.919496324164539e-5
allele num: 104194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162572
  ensembl protein: ENSP00000383717
  ensembl transcript: ENST00000400928
  gene symbol: SCNN1D
  hgvsc: ENST00000400928.3:c.1767_1770delTCAG
  hgvsp: ENSP00000383717.3:p.Ser589ArgfsTer23
  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.2259_2262delTCAG
  hgvsp: ENSP00000368411.5:p.Ser753ArgfsTer23
  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.1965_1968delTCAG
  hgvsp: ENSP00000321594.8:p.Ser655ArgfsTer23
  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.1767_1770delTCAG
  hgvsp: ENSP00000339504.2:p.Ser589ArgfsTer23
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25973
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser753ArgfsTer23
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: CCAGT
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-1226837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226837
    reference: chr 1
allele count: 1
allele frequency: 9.591038133967621e-6
allele num: 104264
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.1764C>T
  hgvsp: ENST00000338555.2:c.1764C>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.2256C>T
  hgvsp: ENST00000379116.5:c.2256C>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.1962C>T
  hgvsp: ENST00000325425.8:c.1962C>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.1764C>T
  hgvsp: ENST00000400928.3:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
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genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 433
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala752Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-1226843-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226843
    reference: chr 1
allele count: 1
allele frequency: 9.544352606562697e-6
allele num: 104774
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.1968G>T
  hgvsp: ENSP00000321594.8:p.Gln656His
  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.1770G>T
  hgvsp: ENSP00000339504.2:p.Gln590His
  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.1770G>T
  hgvsp: ENSP00000383717.3:p.Gln590His
  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.2262G>T
  hgvsp: ENSP00000368411.5:p.Gln754His
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
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genotype quality: GenotypeQuality
  all individuals: 120
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1126
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genotype quality: GenotypeQuality
  all individuals: 1680
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2015
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
  all individuals: 2694
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genotype quality: GenotypeQuality
  all individuals: 560
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln754His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-1226848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226848
    reference: chr 1
allele count: 1
allele frequency: 9.488206159743439e-6
allele num: 105394
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.1973C>T
  hgvsp: ENSP00000321594.8:p.Pro658Leu
  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.2267C>T
  hgvsp: ENSP00000368411.5:p.Pro756Leu
  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.1775C>T
  hgvsp: ENSP00000339504.2:p.Pro592Leu
  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.1775C>T
  hgvsp: ENSP00000383717.3:p.Pro592Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1153
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1444
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  variant carriers: 0
hgvs: p.Pro756Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-1226849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226849
    reference: chr 1
allele count: 3
allele frequency: 2.841124327600576e-5
allele num: 105592
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.2268C>T
  hgvsp: ENST00000379116.5:c.2268C>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.1776C>T
  hgvsp: ENST00000400928.3:c.1776C>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.1776C>T
  hgvsp: ENST00000338555.2:c.1776C>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.1974C>T
  hgvsp: ENST00000325425.8:c.1974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro756Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-1226851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226851
    reference: chr 1
allele count: 623
allele frequency: 5.882797303167079e-3
allele num: 105902
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.1778C>T
  hgvsp: ENSP00000339504.2:p.Pro593Leu
  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.1778C>T
  hgvsp: ENSP00000383717.3:p.Pro593Leu
  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.1976C>T
  hgvsp: ENSP00000321594.8:p.Pro659Leu
  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.2270C>T
  hgvsp: ENSP00000368411.5:p.Pro757Leu
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 1.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27310
  bin: 2.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7469
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31856
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Pro757Leu
num of homozygotes: 16
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-1226852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226852
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226852
    reference: chr 1
allele count: 132
allele frequency: 1.242727221374908e-3
allele num: 106218
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.2271G>A
  hgvsp: ENST00000379116.5:c.2271G>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.1779G>A
  hgvsp: ENST00000338555.2:c.1779G>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.1779G>A
  hgvsp: ENST00000400928.3:c.1779G>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.1977G>A
  hgvsp: ENST00000325425.8:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27720
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7444
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 2.75e1
  variant carriers: 2
hgvs: p.Pro757Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-1226861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226861
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226861
    reference: chr 1
allele count: 7
allele frequency: 6.520726595249186e-5
allele num: 107350
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.1788C>T
  hgvsp: ENST00000338555.2:c.1788C>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.1788C>T
  hgvsp: ENST00000400928.3:c.1788C>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.1986C>T
  hgvsp: ENST00000325425.8:c.1986C>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.2280C>T
  hgvsp: ENST00000379116.5:c.2280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly760Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-1226862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1226862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1226862
    reference: chr 1
allele count: 14
allele frequency: 1.302107554083967e-4
allele num: 107518
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.1987G>A
  hgvsp: ENSP00000321594.8:p.Gly663Ser
  variant of: http://identifiers.org/hgnc/10601
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gly761Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 3096
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 6.690454950936664e-3
allele num: 2242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.756339581036384e-4
allele num: 7256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.92897e5

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.85e-2

GenotypeQuality
all individuals: 216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.419244961680386e-4
allele num: 7046
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 4.91014e5

FS
type: SiteQuality
SIO_000300: 4.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-2

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.29553264604811e-4
allele num: 6984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.092776745710851e-4
allele num: 18302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.474635163307853e-4
allele num: 2878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 4.92655e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1009
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18302
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.464285714285714e-4
allele num: 2240
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 4.92655e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.078e0

QD
type: SiteQuality
SIO_000300: 1.162e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.402743142144638e-3
allele num: 6416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 4.9343e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.525e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 7.666e0

VQSLOD
type: SiteQuality
SIO_000300: -1.217e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
all individuals: 1103
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
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GenotypeQuality
all individuals: 81
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 6.978367062107466e-4
allele num: 2866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.145936981757877e-4
allele num: 2412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.5600624024961e-4
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.853845324129004e-4
allele num: 18542
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 3.322e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 4.97536e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

GenotypeQuality
all individuals: 3283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.076923076923077e-4
allele num: 6500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18914
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

DP
type: SiteQuality
SIO_000300: 4.99364e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.748e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 11506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.058441558441559e-4
allele num: 2464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

VQSLOD
type: SiteQuality
SIO_000300: -1.516e0

FS
type: SiteQuality
SIO_000300: 5.756e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

DP
type: SiteQuality
SIO_000300: 5.04414e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 11420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3971
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GenotypeQuality
all individuals: 2851
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.779e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.04733e5

GenotypeQuality
all individuals: 105
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3984
bin: 2.75e1
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GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3335
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 6
allele frequency: 6.369426751592357e-3
allele num: 942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2534
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.622323166774822e-3
allele num: 3082
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 7.97702616464582e-4
allele num: 6268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 9.834368530020703e-4
allele num: 19320
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.855050115651503e-4
allele num: 2594
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.216e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.153e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.13904e5

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.75e1
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GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.25e1
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GenotypeQuality
all individuals: 4060
bin: 2.75e1
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GenotypeQuality
all individuals: 61
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.932425766992207e-5
allele num: 20274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.038e0

FS
type: SiteQuality
SIO_000300: 1.3262e1

QD
type: SiteQuality
SIO_000300: 8.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 5.31319e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 3.25e1
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GenotypeQuality
all individuals: 1240
bin: 3.75e1
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GenotypeQuality
all individuals: 1445
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.880936706479827e-4
allele num: 21266
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.586800573888092e-4
allele num: 2788
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.181673560292714e-4
allele num: 6286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.710000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 5.43065e5

GenotypeQuality
all individuals: 3355
bin: 3.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1261
bin: 2.5e0
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GenotypeQuality
all individuals: 2565
bin: 1.75e1
variant carriers: 42

GenotypeQuality
all individuals: 111
bin: 7.25e1
variant carriers: 44

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 65

GenotypeQuality
all individuals: 1445
bin: 9.75e1
variant carriers: 1373

South Asian
type: Population
allele count: 311
allele frequency: 4.94750238625517e-2
allele num: 6286
num of homozygotes: 5

Latino
type: Population
allele count: 35
allele frequency: 1.255380200860832e-2
allele num: 2788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 870
allele frequency: 4.091037336593624e-2
allele num: 21266
num of homozygotes: 16

Other
type: Population
allele count: 18
allele frequency: 6.976744186046512e-2
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 73
allele frequency: 2.164887307236062e-2
allele num: 3372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 115
allele frequency: 1.007005253940455e-1
allele num: 1142
num of homozygotes: 5

East Asian
type: Population
allele count: 2
allele frequency: 7.092198581560284e-4
allele num: 2820
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.43065e5

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.710000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.546099290780142e-4
allele num: 2820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

DP
type: SiteQuality
SIO_000300: 5.43065e5

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.710000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 28967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3911
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.620745542949757e-4
allele num: 6170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.61e0

DP
type: SiteQuality
SIO_000300: 5.61234e5

VQSLOD
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.2465e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7491
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.25531914893617e-5
allele num: 23500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.016e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.186e0

DP
type: SiteQuality
SIO_000300: 5.67311e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.71e0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4116
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.074315514993481e-5
allele num: 24544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.85065e5

VQSLOD
type: SiteQuality
SIO_000300: -2.708e0

QD
type: SiteQuality
SIO_000300: 4.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 4689
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3386
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 3.860010293360782e-3
allele num: 3886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.982477100756671e-5
allele num: 25110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 5.98865e5

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

FS
type: SiteQuality
SIO_000300: 1.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 610
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.599e1

DP
type: SiteQuality
SIO_000300: 6.24212e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.678093197643278e-4
allele num: 3734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.28256e5

VQSLOD
type: SiteQuality
SIO_000300: -8.037e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 1.0305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeQuality
all individuals: 371
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4787
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 7.637474541751527e-4
allele num: 3928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.48742e5

VQSLOD
type: SiteQuality
SIO_000300: -7.981e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
all individuals: 3520
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.07370750599373e-5
allele num: 32534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

DP
type: SiteQuality
SIO_000300: 7.29884e5

MQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

FS
type: SiteQuality
SIO_000300: 8.218e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.771e1

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 36

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1600
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 43

GenotypeQuality
all individuals: 1835
bin: 9.75e1
variant carriers: 1768

GenotypeQuality
all individuals: 564
bin: 4.25e1
variant carriers: 11

Other
type: Population
allele count: 7
allele frequency: 1.822916666666667e-2
allele num: 384
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 7.157464212678937e-3
allele num: 4890
num of homozygotes: 0

Latino
type: Population
allele count: 74
allele frequency: 1.505288852725793e-2
allele num: 4916
num of homozygotes: 0

South Asian
type: Population
allele count: 177
allele frequency: 2.276234567901235e-2
allele num: 7776
num of homozygotes: 3

East Asian
type: Population
allele count: 1
allele frequency: 2.127659574468085e-4
allele num: 4700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1504
allele frequency: 4.402037112919276e-2
allele num: 34166
num of homozygotes: 16

European (Finnish)
type: Population
allele count: 92
allele frequency: 4.107142857142857e-2
allele num: 2240
num of homozygotes: 3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.55102e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14386
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1088
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variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.049180327868852e-4
allele num: 4880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.992825827022718e-4
allele num: 5018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.259248799774075e-4
allele num: 35410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 7.75221e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.562044607597753e-5
allele num: 35958
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.98e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 3.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 7.81228e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1416
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variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.555e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

QD
type: SiteQuality
SIO_000300: 7.92e0

DP
type: SiteQuality
SIO_000300: 8.58483e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

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: 15008
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.596933886937081e-4
allele num: 6262
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39930
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.168e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 8.64753e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.043e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2110
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.204779962959697e-5
allele num: 45356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 9.66888e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1621
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variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.012841091492777e-5
allele num: 49840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.054829e6

QD
type: SiteQuality
SIO_000300: 1.141e1

GenotypeQuality
all individuals: 414
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1722
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GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006420545746388e-5
allele num: 49840
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.054829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.978944035462677e-5
allele num: 50532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
SIO_000300: -1.048e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 7.76e0

DP
type: SiteQuality
SIO_000300: 1.064836e6

GenotypeQuality
all individuals: 531
bin: 7.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.94954575583889e-5
allele num: 51294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12052
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.563547018092473e-3
allele num: 8954
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.080374e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 228
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GenotypeQuality
all individuals: 1607
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 2

GenotypeQuality
all individuals: 33153
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.844970778222086e-5
allele num: 52016
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 1.092842e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 4.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

QD
type: SiteQuality
SIO_000300: 9.98e0

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
all individuals: 1941
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variant carriers: 0

GenotypeQuality
all individuals: 677
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GenotypeQuality
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GenotypeQuality
all individuals: 2867
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GenotypeQuality
all individuals: 93
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variant carriers: 6

GenotypeQuality
all individuals: 673
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.129135458617185e-4
allele num: 53138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.068e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.107338e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 583
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 758
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.591e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.881e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.108721e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.219e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4146
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 53212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12912
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 2.103049421661409e-4
allele num: 9510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.839e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.697e0

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.63e-1

DP
type: SiteQuality
SIO_000300: 1.107539e6

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 102

GenotypeQuality
all individuals: 1208
bin: 5.25e1
variant carriers: 83

GenotypeQuality
all individuals: 1288
bin: 4.75e1
variant carriers: 88

GenotypeQuality
all individuals: 7612
bin: 9.75e1
variant carriers: 7564

Latino
type: Population
allele count: 1961
allele frequency: 1.952798247361083e-1
allele num: 10042
num of homozygotes: 181

European (Non-Finnish)
type: Population
allele count: 2485
allele frequency: 4.58182756840475e-2
allele num: 54236
num of homozygotes: 51

South Asian
type: Population
allele count: 1757
allele frequency: 1.282481751824817e-1
allele num: 13700
num of homozygotes: 95

Other
type: Population
allele count: 66
allele frequency: 9.428571428571429e-2
allele num: 700
num of homozygotes: 3

East Asian
type: Population
allele count: 1317
allele frequency: 1.688028710587029e-1
allele num: 7802
num of homozygotes: 84

African
type: Population
allele count: 961
allele frequency: 1.260823930726843e-1
allele num: 7622
num of homozygotes: 41

European (Finnish)
type: Population
allele count: 351
allele frequency: 8.010041077133728e-2
allele num: 4382
num of homozygotes: 8

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.163139e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.549184269912323e-5
allele num: 54062
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.120045e6

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.833e1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

GenotypeQuality
all individuals: 1975
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1983
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.282709081580298e-4
allele num: 7796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.234292468511063e-5
allele num: 54146
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.0e-4
allele num: 7500
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.45921494236101e-4
allele num: 13706
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.985702938840349e-4
allele num: 10072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

DP
type: SiteQuality
SIO_000300: 1.122944e6

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 2402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.839723305614835e-5
allele num: 54356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

FS
type: SiteQuality
SIO_000300: 2.026e0

DP
type: SiteQuality
SIO_000300: 1.122355e6

GenotypeQuality
all individuals: 27601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.943642475776152e-4
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.839723305614835e-5
allele num: 54356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.122355e6

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3334
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 2

Latino
type: Population
allele count: 2
allele frequency: 1.984914648670107e-4
allele num: 10076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.226454089164453e-5
allele num: 54192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 9.442184776292853e-4
allele num: 13768
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.334044823906083e-4
allele num: 7496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.114935e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

GenotypeQuality
all individuals: 11283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24759
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.845290817832891e-5
allele num: 54192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.12e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.114935e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 439
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.205882352941177e-4
allele num: 54400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.442377037357565e-4
allele num: 13866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 3.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.112952e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 1781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.616374945754376e-4
allele num: 13826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.679528403001072e-4
allele num: 7464
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.960396039603961e-4
allele num: 10100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.134218289085546e-4
allele num: 54240
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 1.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 1.110645e6

QD
type: SiteQuality
SIO_000300: 1.168e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

GenotypeQuality
all individuals: 1781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25614
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.843657817109145e-5
allele num: 54240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13826
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 1.093e0

QD
type: SiteQuality
SIO_000300: 1.168e1

DP
type: SiteQuality
SIO_000300: 1.110645e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

GenotypeQuality
all individuals: 1618
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.595320393512364e-3
allele num: 7522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.209e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.111109e6

GenotypeQuality
all individuals: 1129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2684
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14002
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.890173410404624e-3
allele num: 692
num of homozygotes: 0

African
type: Population
allele count: 52
allele frequency: 6.894722885176346e-3
allele num: 7542
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.943217665615142e-4
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.65764447695684e-5
allele num: 54680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 3.226e0

DP
type: SiteQuality
SIO_000300: 1.10809e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.03e1

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 1063
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.951013181192209e-4
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.288992837304488e-4
allele num: 54728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.113089937666963e-3
allele num: 4492
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.56278831368529e-4
allele num: 7804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 1.101e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.110641e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 2922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54766
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.700205338809035e-4
allele num: 7792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.022e1

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.105103e6

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

GenotypeQuality
all individuals: 3237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.093204709887927e-5
allele num: 14098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

MQRankSum
type: SiteQuality
SIO_000300: -1.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

DP
type: SiteQuality
SIO_000300: 1.099278e6

FS
type: SiteQuality
SIO_000300: 1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.685e0

QD
type: SiteQuality
SIO_000300: 6.93e0

GenotypeQuality
all individuals: 2071
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.965795164143896e-4
allele num: 10174
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.428e1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

FS
type: SiteQuality
SIO_000300: 1.844e0

DP
type: SiteQuality
SIO_000300: 1.093061e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.821360920880082e-5
allele num: 54904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.091498e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 23315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2661
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 613
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.934684241589612e-4
allele num: 10166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 1.091498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.105809506465124e-5
allele num: 54910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14170
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.088134e6

FS
type: SiteQuality
SIO_000300: 6.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

GenotypeQuality
all individuals: 1127
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 186
allele frequency: 3.387978142076503e-3
allele num: 54900
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 11
allele frequency: 2.392344497607655e-3
allele num: 4598
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 9.310986964618249e-4
allele num: 7518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.854781582054309e-4
allele num: 10164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14170
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.085753e6

GenotypeQuality
all individuals: 2822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.642987249544627e-5
allele num: 54900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.87396694214876e-4
allele num: 7744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.465e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.085753e6

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.817322720168647e-5
allele num: 55026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14264
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 1.958e0

VQSLOD
type: SiteQuality
SIO_000300: -1.628e0

QD
type: SiteQuality
SIO_000300: 6.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.088212e6

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.806945900039753e-5
allele num: 55342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.095975e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.516e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.388503193557345e-4
allele num: 14404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

DP
type: SiteQuality
SIO_000300: 1.100561e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 4258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3582
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.377600220416035e-4
allele num: 14518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.475e-1

DP
type: SiteQuality
SIO_000300: 1.112863e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 7.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.188555819135935e-5
allele num: 55644
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.899406651028011e-5
allele num: 14494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4848
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.135e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

FS
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.11732e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25283
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 10738
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.280081925243216e-4
allele num: 7812
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.855311711011847e-4
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.868131868131868e-5
allele num: 14560
num of homozygotes: 0

African
type: Population
allele count: 100
allele frequency: 1.290322580645161e-2
allele num: 7750
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.583715596330275e-5
allele num: 55808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.747252747252747e-3
allele num: 728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.125263e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
SIO_000300: 1.122e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
all individuals: 401
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.566588201726229e-5
allele num: 56076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.131177e6

QD
type: SiteQuality
SIO_000300: 8.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

GenotypeQuality
all individuals: 190
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.271617497456765e-4
allele num: 7864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56194
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -4.284e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

FS
type: SiteQuality
SIO_000300: 7.254e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

DP
type: SiteQuality
SIO_000300: 1.137631e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 1145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56980
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.333644485931458e-3
allele num: 14998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.521995810321844e-5
allele num: 10502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.183e0

DP
type: SiteQuality
SIO_000300: 1.183169e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.507049168829347e-5
allele num: 57028
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.188685e6

FS
type: SiteQuality
SIO_000300: 9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

QD
type: SiteQuality
SIO_000300: 8.34e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.664e1

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.639224538573895e-5
allele num: 15062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: -2.158e0

MQRankSum
type: SiteQuality
SIO_000300: -2.272e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.190168e6

GenotypeQuality
all individuals: 4334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.745383460746326e-5
allele num: 57294
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

MQRankSum
type: SiteQuality
SIO_000300: -1.838e0

FS
type: SiteQuality
SIO_000300: 8.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.204653e6

GenotypeQuality
all individuals: 1253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.251e0

DP
type: SiteQuality
SIO_000300: 1.2334e6

QD
type: SiteQuality
SIO_000300: 7.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 3.676e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.094e0

MQ
type: SiteQuality
SIO_000300: 5.803e1

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
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variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.967987404880609e-4
allele num: 15244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.239525e6

FS
type: SiteQuality
SIO_000300: 5.034e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.087e-1

GenotypeQuality
all individuals: 781
bin: 9.75e1
variant carriers: 578

GenotypeQuality
all individuals: 664
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1400
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1102
bin: 5.25e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.683971201212581e-4
allele num: 5278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.992332148868525e-3
allele num: 10694
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.617801047120419e-3
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 572
allele frequency: 7.162534435261708e-2
allele num: 7986
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.899892915126602e-4
allele num: 57898
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.966439433665443e-4
allele num: 15256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.252774e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 892
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 601
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 101
allele frequency: 1.26661650363682e-2
allele num: 7974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.098213363626975e-4
allele num: 58098
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.211782252050708e-3
allele num: 10728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.258966e6

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.295336787564767e-4
allele num: 15440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.408897221748764e-5
allele num: 58670
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.73134328358209e-4
allele num: 8040
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 1.290198e6