1-120438725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438725
    reference: chr 1
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.235C>T
  hgvsp: ENSP00000358407.1:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46912
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  variant carriers: 0
hgvs: p.Pro79Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.999670036296008e-5
  allele num: 66674
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-120438741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438741
    reference: chr 1
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.219C>T
  hgvsp: ENST00000369400.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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
  all individuals: 7453
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  variant carriers: 0
hgvs: p.His73His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16472
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

1-120438747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438747
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.213G>A
  hgvsp: ENST00000369400.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
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hgvs: p.Lys71Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.071645415907711e-5
  allele num: 16470
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

1-120438755-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438755
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.205A>G
  hgvsp: ENSP00000358407.1:p.Lys69Glu
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Lys69Glu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-120438759-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438759
    reference: chr 1
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.201G>C
  hgvsp: ENSP00000358407.1:p.Gln67His
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln67His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

1-120438759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438759
    reference: chr 1
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.201G>A
  hgvsp: ENST00000369400.1:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7352
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln67Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.638562543192812e-5
  allele num: 11576
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-120438767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438767
    reference: chr 1
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.193C>T
  hgvsp: ENST00000369400.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

1-120438769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438769
    reference: chr 1
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.191A>G
  hgvsp: ENSP00000358407.1:p.Tyr64Cys
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr64Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16440
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-120438775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438775
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438775
    reference: chr 1
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.185T>C
  hgvsp: ENSP00000358407.1:p.Val62Ala
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val62Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-120438776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438776
    reference: chr 1
allele count: 3
allele frequency: 2.475533477464394e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.184G>A
  hgvsp: ENSP00000358407.1:p.Val62Met
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
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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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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7320
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
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  variant carriers: 0
hgvs: p.Val62Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.218323586744639e-4
  allele num: 16416
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-120438777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438777
    reference: chr 1
allele count: 13
allele frequency: 1.072536466239852e-4
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.183C>T
  hgvsp: ENST00000369400.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
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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: 4
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1576
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  variant carriers: 0
hgvs: p.Pro61Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16426
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 10
  allele frequency: 1.50073536032656e-4
  allele num: 66634
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-120438777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438777
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.183C>A
  hgvsp: ENST00000369400.1:c.183C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 1
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
  all individuals: 162
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  variant carriers: 0
hgvs: p.Pro61Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-120438791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438791
    reference: chr 1
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.169G>A
  hgvsp: ENSP00000358407.1:p.Gly57Ser
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 62
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genotype quality: GenotypeQuality
  all individuals: 66
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  variant carriers: 0
hgvs: p.Gly57Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10394
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-120438796-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438796
    reference: chr 1
allele count: 3
allele frequency: 2.47537006782514e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.164T>G
  hgvsp: ENSP00000358407.1:p.Val55Gly
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Val55Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-120438804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438804
    reference: chr 1
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.156G>A
  hgvsp: ENST00000369400.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg52Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10392
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-120438805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438805
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.155G>A
  hgvsp: ENSP00000358407.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg52Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-120438810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438810
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438810
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.150C>T
  hgvsp: ENST00000369400.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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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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hgvs: p.Ser50Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155802126675913e-4
  allele num: 8652
  num of homozygotes: 0
population: European (Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-120438811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438811
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.149G>A
  hgvsp: ENSP00000358407.1:p.Ser50Asn
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser50Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-120438827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438827
    reference: chr 1
allele count: 935
allele frequency: 7.716431459932327e-3
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.133A>G
  hgvsp: ENSP00000358407.1:p.Ile45Val
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 32608
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 925
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile45Val
num of homozygotes: 7
population: South Asian
  type: Population
  allele count: 21
  allele frequency: 1.27908393226946e-3
  allele num: 16418
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 34
  allele frequency: 5.140610825521621e-3
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-120438833-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438833
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438833
    reference: chr 1
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.127G>C
  hgvsp: ENSP00000358407.1:p.Val43Leu
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 596
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 192
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genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val43Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66604
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10384
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-120438838-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438838
    reference: chr 1
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.122A>G
  hgvsp: ENSP00000358407.1:p.Tyr41Cys
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 265
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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: 18
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genotype quality: GenotypeQuality
  all individuals: 47828
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr41Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10382
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/1-120438845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438845
    reference: chr 1
allele count: 2
allele frequency: 1.652400938563733e-5
allele num: 121036
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.115G>T
  hgvsp: ENSP00000358407.1:p.Asp39Tyr
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 915
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp39Tyr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66588
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10380
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-120438845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438845
    reference: chr 1
allele count: 2
allele frequency: 1.652400938563733e-5
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.115G>A
  hgvsp: ENSP00000358407.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 593
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp39Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.003544182134919e-5
  allele num: 66588
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-120438868-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438868
    reference: chr 1
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.92T>G
  hgvsp: ENSP00000358407.1:p.Ile31Ser
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ile31Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15896
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

1-120438879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438879
    reference: chr 1
allele count: 4
allele frequency: 3.355535795178095e-5
allele num: 119206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.81C>T
  hgvsp: ENST00000369400.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly27Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
  type: Population
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  allele frequency: 0.0e0
  allele num: 892
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population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-120438880-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438880
    reference: chr 1
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.80G>T
  hgvsp: ENSP00000358407.1:p.Gly27Val
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
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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
  all individuals: 7163
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hgvs: p.Gly27Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11558
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-120438883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438883
    reference: chr 1
allele count: 1
allele frequency: 8.430992327796981e-6
allele num: 118610
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.77T>C
  hgvsp: ENSP00000358407.1:p.Leu26Pro
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu26Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10258
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65898
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-120438884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438884
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438884
    reference: chr 1
allele count: 4
allele frequency: 3.380491185369234e-5
allele num: 118326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.76C>T
  hgvsp: ENSP00000358407.1:p.Leu26Phe
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu26Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10244
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11554
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-120438899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438899
    reference: chr 1
allele count: 1
allele frequency: 8.574858514834504e-6
allele num: 116620
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.61A>G
  hgvsp: ENSP00000358407.1:p.Met21Val
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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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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  variant carriers: 0
hgvs: p.Met21Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11524
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 858
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-120438900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438900
    reference: chr 1
allele count: 1
allele frequency: 8.575593859874796e-6
allele num: 116610
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.60A>G
  hgvsp: ENST00000369400.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Thr20Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.161710037174721e-4
  allele num: 8608
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-120438902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438902
    reference: chr 1
allele count: 10
allele frequency: 8.596087061169756e-5
allele num: 116332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.58A>G
  hgvsp: ENSP00000358407.1:p.Thr20Ala
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Thr20Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 852
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10124
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-120438903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438903
    reference: chr 1
allele count: 5
allele frequency: 4.303888994095064e-5
allele num: 116174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.57G>A
  hgvsp: ENST00000369400.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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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: 337
  bin: 2.75e1
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro19Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13218
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 852
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-120438912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438912
    reference: chr 1
allele count: 213
allele frequency: 1.846842160024971e-3
allele num: 115332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.48A>G
  hgvsp: ENST00000369400.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 344
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 28
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 12
genotype depth: GenotypeDepth
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  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 351
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  variant carriers: 26
genotype depth: GenotypeDepth
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  variant carriers: 22
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
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  variant carriers: 9
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 212
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.740644038294169e-4
  allele num: 11490
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 2
  allele frequency: 2.386634844868735e-3
  allele num: 838
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-120438927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438927
    reference: chr 1
allele count: 1
allele frequency: 8.86037816093991e-6
allele num: 112862
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.33C>T
  hgvsp: ENST00000369400.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys11Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11428
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.553132668592551e-5
  allele num: 64386
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-120438930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438930
    reference: chr 1
allele count: 4
allele frequency: 3.562776115148924e-5
allele num: 112272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.30A>G
  hgvsp: ENST00000369400.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
  all individuals: 108
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hgvs: p.Gln10Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11394
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.557098813490704e-5
  allele num: 64222
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

1-120438939-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438939
    reference: chr 1
allele count: 1
allele frequency: 9.054198431812831e-6
allele num: 110446
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.21C>A
  hgvsp: ENSP00000358407.1:p.Phe7Leu
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Phe7Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11286
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8490
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-120438955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438955
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438955
    reference: chr 1
allele count: 2
allele frequency: 1.896345741755637e-5
allele num: 105466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.5G>A
  hgvsp: ENSP00000358407.1:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg2Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.258602711157456e-5
  allele num: 61376
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 752
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
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1-120438963-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438963
    reference: chr 1
allele count: 2
allele frequency: 1.964559349337943e-5
allele num: 101804
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.-4G>C
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele frequency: 3.35750738651625e-5
  allele num: 59568
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population: African
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population: Other
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  allele num: 736
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population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-120438965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438965
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438965
    reference: chr 1
allele count: 1
allele frequency: 9.836130072984085e-6
allele num: 101666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: East Asian
  type: Population
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  allele num: 7922
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population: European (Non-Finnish)
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  allele num: 59494
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population: Other
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population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

1-120438970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120438970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120438970
    reference: chr 1
allele count: 1
allele frequency: 1.004782765965998e-5
allele num: 99524
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Finnish)
population: East Asian
population: Other
population: Latino
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site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
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1-120438975-C-T
type: Variant
location: Region
  begin: Position
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    reference: chr 1
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allele count: 17
allele frequency: 1.728555740838655e-4
allele num: 98348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134249
  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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1-120438979-C-T
type: Variant
location: Region
  begin: Position
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    reference: chr 1
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allele count: 1
allele frequency: 1.032055648440564e-5
allele num: 96894
alternate allele: T
annotation: Annotation
  canonical: true
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  ensembl protein: ENSP00000358407
  ensembl transcript: ENST00000369400
  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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1-120439007-C-T
type: Variant
location: Region
  begin: Position
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    reference: chr 1
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allele count: 1
allele frequency: 1.26014416049196e-5
allele num: 79356
alternate allele: T
annotation: Annotation
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  consequence: 5_prime_UTR_variant
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  ensembl protein: ENSP00000358407
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  gene symbol: ADAM30
  hgvsc: ENST00000369400.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/208
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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1-120439011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
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    reference: chr 1
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alternate allele: T
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  gene symbol: ADAM30
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  variant of: http://identifiers.org/hgnc/208
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  allele frequency: 0.0e0
  allele num: 4242
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-120457886-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457886
    reference: chr 1
allele count: 8
allele frequency: 6.801911337085722e-5
allele num: 117614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.*43A>G
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16874
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9446
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64154
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-120457890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457890
    reference: chr 1
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.*39G>A
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16868
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.55865207768322e-5
  allele num: 64158
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16422
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-120457890-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457888
    reference: chr 1
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.*37_*38delTT
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
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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
  all individuals: 27884
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 244
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genotype quality: GenotypeQuality
  all individuals: 867
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 67
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16422
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9448
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: CAA
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-120457892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457892
    reference: chr 1
allele count: 2
allele frequency: 1.70004420114923e-5
allele num: 117644
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.*37T>C
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64176
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.217878455730118e-4
  allele num: 16422
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

1-120457918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457918
    reference: chr 1
allele count: 1
allele frequency: 8.462957634434082e-6
allele num: 118162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.*11C>T
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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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
  all individuals: 1916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 28441
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64500
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16456
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

1-120457919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457919
    reference: chr 1
allele count: 1
allele frequency: 8.460523198754612e-6
allele num: 118196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.*10C>T
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2204
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genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 367
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9578
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-120457932-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457932
    reference: chr 1
allele count: 1
allele frequency: 8.430139434506248e-6
allele num: 118622
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7413G>C
  hgvsp: ENST00000256646.2:c.7413G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  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
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1141
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2471Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9666
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.542828931128116e-5
  allele num: 64816
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-120457932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457932
    reference: chr 1
allele count: 5
allele frequency: 4.215069717253123e-5
allele num: 118622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7413G>A
  hgvsp: ENST00000256646.2:c.7413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 1141
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  variant carriers: 0
hgvs: p.Ala2471Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9666
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.542828931128116e-5
  allele num: 64816
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-120457933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457933
    reference: chr 1
allele count: 2
allele frequency: 1.685374321636835e-5
allele num: 118668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7412C>T
  hgvsp: ENSP00000256646.2:p.Ala2471Val
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2471Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.541877389909954e-5
  allele num: 64856
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-120457946-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457946
    reference: chr 1
allele count: 1
allele frequency: 8.388980235562565e-6
allele num: 119204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7399A>G
  hgvsp: ENSP00000256646.2:p.Met2467Val
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met2467Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65220
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.062075654704171e-5
  allele num: 16496
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-120457951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457951
    reference: chr 1
allele count: 1
allele frequency: 8.374788536589452e-6
allele num: 119406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7394A>G
  hgvsp: ENSP00000256646.2:p.Asn2465Ser
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asn2465Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11556
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-120457964-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457964
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457964
    reference: chr 1
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7381G>C
  hgvsp: ENSP00000256646.2:p.Glu2461Gln
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu2461Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.523647001462701e-5
  allele num: 65632
  num of homozygotes: 0
population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-120457968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457968
    reference: chr 1
allele count: 5
allele frequency: 4.166875010417187e-5
allele num: 119994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7377G>A
  hgvsp: ENSP00000256646.2:p.Met2459Ile
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Met2459Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.960159362549801e-5
  allele num: 10040
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-120457977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457977
    reference: chr 1
allele count: 6
allele frequency: 4.988941180383483e-5
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7368G>A
  hgvsp: ENST00000256646.2:c.7368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly2456Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.516806212838248e-5
  allele num: 65928
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 5.799118533982835e-4
  allele num: 8622
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

1-120457987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457987
    reference: chr 1
allele count: 2
allele frequency: 1.659861235600704e-5
allele num: 120492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7358G>A
  hgvsp: ENSP00000256646.2:p.Arg2453Gln
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 636
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genotype quality: GenotypeQuality
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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: 877
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  variant carriers: 0
hgvs: p.Arg2453Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-120457988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457988
    reference: chr 1
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7357C>T
  hgvsp: ENSP00000256646.2:p.Arg2453Trp
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1912
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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hgvs: p.Arg2453Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.159285879897983e-4
  allele num: 8626
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-120457996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120457996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120457996
    reference: chr 1
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7349G>T
  hgvsp: ENSP00000256646.2:p.Gly2450Val
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.25e1
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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 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: 877
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  variant carriers: 0
hgvs: p.Gly2450Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-120458003-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458003
    reference: chr 1
allele count: 6
allele frequency: 4.966640729765078e-5
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7342G>T
  hgvsp: ENSP00000256646.2:p.Ala2448Ser
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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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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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 16857
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala2448Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-120458004-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458004
    reference: chr 1
allele count: 15641
allele frequency: 1.292965197982971e-1
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7341T>A
  hgvsp: ENST00000256646.2:c.7341T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 3.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 103
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 675
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  variant carriers: 462
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 292
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 226
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 32
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  variant carriers: 1
hgvs: p.Gly2447Gly
num of homozygotes: 1431
population: African
  type: Population
  allele count: 3543
  allele frequency: 3.427825077399381e-1
  allele num: 10336
  num of homozygotes: 637
population: Latino
  type: Population
  allele count: 984
  allele frequency: 8.501814411612234e-2
  allele num: 11574
  num of homozygotes: 38
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-120458005-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458005
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458005
    reference: chr 1
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7340G>T
  hgvsp: ENSP00000256646.2:p.Gly2447Val
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 1118
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1529
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hgvs: p.Gly2447Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10334
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8634
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-120458007-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458007
    reference: chr 1
allele count: 7
allele frequency: 5.785697755149271e-5
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7338G>T
  hgvsp: ENST00000256646.2:c.7338G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
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  variant carriers: 5
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
  all individuals: 2582
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly2446Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 6
  allele frequency: 9.033695684904695e-5
  allele num: 66418
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-120458007-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458007
    reference: chr 1
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7338G>C
  hgvsp: ENST00000256646.2:c.7338G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly2446Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-120458008-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458008
    reference: chr 1
allele count: 2
allele frequency: 1.652892561983471e-5
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7337G>T
  hgvsp: ENSP00000256646.2:p.Gly2446Val
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly2446Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-120458008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458008
    reference: chr 1
allele count: 2
allele frequency: 1.652892561983471e-5
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7337G>A
  hgvsp: ENSP00000256646.2:p.Gly2446Glu
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly2446Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10338
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-120458010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458010
    reference: chr 1
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7335T>C
  hgvsp: ENST00000256646.2:c.7335T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 822
  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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genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro2445Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-120458023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458023
    reference: chr 1
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7322C>T
  hgvsp: ENSP00000256646.2:p.Thr2441Ile
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2928
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 438
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1529
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genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2606
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr2441Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10378
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.501817198810561e-5
  allele num: 66586
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-120458023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458023
    reference: chr 1
allele count: 4
allele frequency: 3.3000033000033e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7322C>G
  hgvsp: ENSP00000256646.2:p.Thr2441Ser
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr2441Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 2.422774076317383e-4
  allele num: 16510
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-120458025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458025
    reference: chr 1
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7320C>T
  hgvsp: ENST00000256646.2:c.7320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr2440Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-120458027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458027
    reference: chr 1
allele count: 3
allele frequency: 2.474063566939913e-5
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7318A>G
  hgvsp: ENSP00000256646.2:p.Thr2440Ala
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
hgvs: p.Thr2440Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66624
  num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 2.888503755054881e-4
  allele num: 10386
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-120458037-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458037
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458037
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7308G>T
  hgvsp: ENSP00000256646.2:p.Trp2436Cys
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Trp2436Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.500285054160291e-5
  allele num: 66654
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-120458054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458054
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458054
    reference: chr 1
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7291C>T
  hgvsp: ENSP00000256646.2:p.His2431Tyr
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His2431Tyr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

1-120458057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458057
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458057
    reference: chr 1
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7288C>T
  hgvsp: ENSP00000256646.2:p.Pro2430Ser
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro2430Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499295331194339e-5
  allele num: 66698
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-120458082-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458082
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458082
    reference: chr 1
allele count: 9
allele frequency: 7.414974953862378e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7263T>A
  hgvsp: ENST00000256646.2:c.7263T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser2421Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66710
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-120458104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458104
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7241A>G
  hgvsp: ENSP00000256646.2:p.Tyr2414Cys
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr2414Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-120458121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120458121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 120458121
    reference: chr 1
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134250
  ensembl protein: ENSP00000256646
  ensembl transcript: ENST00000256646
  gene symbol: NOTCH2
  hgvsc: ENST00000256646.2:c.7224C>T
  hgvsp: ENST00000256646.2:c.7224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu2408Leu
num of homozygotes: 0
reference allele: G

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 1.675936e6

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.484e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.672431e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.391e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 1.234e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.671023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 2.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
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South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.669777e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

QD
type: SiteQuality
SIO_000300: 1.484e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 1.319e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

DP
type: SiteQuality
SIO_000300: 1.669752e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.118e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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African
type: Population
allele count: 0
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allele num: 10404
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.669752e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.118e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 1.662e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

VQSLOD
type: SiteQuality
SIO_000300: -3.392e0

MQ
type: SiteQuality
SIO_000300: 5.831e1

QD
type: SiteQuality
SIO_000300: 3.23e1

DP
type: SiteQuality
SIO_000300: 1.668759e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.669012e6

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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VQSLOD
type: SiteQuality
SIO_000300: -1.987e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 5.9e0

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.83e-2

QD
type: SiteQuality
SIO_000300: 9.83e0

DP
type: SiteQuality
SIO_000300: 1.668605e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e0

FS
type: SiteQuality
SIO_000300: 1.2488e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.669106e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.79e0

QD
type: SiteQuality
SIO_000300: 7.88e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.669446e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
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MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.176e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

DP
type: SiteQuality
SIO_000300: 1.669446e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.670669e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

FS
type: SiteQuality
SIO_000300: 2.845e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50355781067043e-5
allele num: 66614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 1.671068e6

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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Other
type: Population
allele count: 0
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allele num: 904
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QD
type: SiteQuality
SIO_000300: 1.619e1

DP
type: SiteQuality
SIO_000300: 1.672057e6

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

FS
type: SiteQuality
SIO_000300: 2.307e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 904
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Latino
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allele count: 0
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allele num: 11576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.79e-1

DP
type: SiteQuality
SIO_000300: 1.672243e6

VQSLOD
type: SiteQuality
SIO_000300: -6.191e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.518e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

Latino
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allele count: 0
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allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16440
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

FS
type: SiteQuality
SIO_000300: 4.221e0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.672225e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 4.922e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.294e0

DP
type: SiteQuality
SIO_000300: 1.672102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

European (Non-Finnish)
type: Population
allele count: 751
allele frequency: 1.12728910237166e-2
allele num: 66620
num of homozygotes: 5

Latino
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allele count: 106
allele frequency: 9.158458614135131e-3
allele num: 11574
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 14
allele frequency: 1.347708894878706e-3
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 9.95575221238938e-3
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

VQSLOD
type: SiteQuality
SIO_000300: 6.54e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.697711e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.149e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.65477e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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DP
type: SiteQuality
SIO_000300: 1.654316e6

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

FS
type: SiteQuality
SIO_000300: 9.76e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
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Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
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allele num: 8650
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FS
type: SiteQuality
SIO_000300: 3.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.653307e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

South Asian
type: Population
allele count: 0
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allele num: 16326
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

FS
type: SiteQuality
SIO_000300: 3.317e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 1.653307e6

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

VQSLOD
type: SiteQuality
SIO_000300: -1.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.642499e6

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 1.1969e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513546238837597e-5
allele num: 66070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15142
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Latino
type: Population
allele count: 0
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allele num: 11558
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East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.407e0

DP
type: SiteQuality
SIO_000300: 1.624021e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15036
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
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East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
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VQSLOD
type: SiteQuality
SIO_000300: -1.572e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.152e0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.545e0

DP
type: SiteQuality
SIO_000300: 1.62162e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.001e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.775067750677507e-5
allele num: 14760
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.613955e6

MQRankSum
type: SiteQuality
SIO_000300: -1.443e0

FS
type: SiteQuality
SIO_000300: 2.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.652e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

South Asian
type: Population
allele count: 4
allele frequency: 2.74423710208562e-4
allele num: 14576
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.752e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.01e-1

DP
type: SiteQuality
SIO_000300: 1.608931e6

QD
type: SiteQuality
SIO_000300: 1.086e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52895847348786e-5
allele num: 65404
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.378e1

FS
type: SiteQuality
SIO_000300: 2.497e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e-1

DP
type: SiteQuality
SIO_000300: 1.583106e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13462
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.58299e6

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 6.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
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European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.530830935031535e-4
allele num: 65324
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VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

DP
type: SiteQuality
SIO_000300: 1.579432e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

African
type: Population
allele count: 3
allele frequency: 2.967359050445104e-4
allele num: 10110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65274
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.578619e6

QD
type: SiteQuality
SIO_000300: 1.246e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
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European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 8.454254795868175e-4
allele num: 65056
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.965243296921549e-4
allele num: 10070
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.675078864353313e-4
allele num: 12680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 138
allele frequency: 2.09027567403817e-2
allele num: 6602
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.568101e6

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.303e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 1.536622e6

Other
type: Population
allele count: 1
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allele num: 798
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East Asian
type: Population
allele count: 2
allele frequency: 2.339181286549708e-4
allele num: 8550
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.529126e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572524845892565e-5
allele num: 63592
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Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
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MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

FS
type: SiteQuality
SIO_000300: 3.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.502772e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.04e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 1.38339e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 1.088e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.609e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.269858e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.229e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

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

African
type: Population
allele count: 1
allele frequency: 1.137915339098771e-4
allele num: 8788
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

FS
type: SiteQuality
SIO_000300: 3.232e0

DP
type: SiteQuality
SIO_000300: 1.266439e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.965e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 1.786e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.907e0

DP
type: SiteQuality
SIO_000300: 1.172489e6

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.943315211745559e-4
allele num: 57758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 3.058e0

DP
type: SiteQuality
SIO_000300: 1.112846e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

QD
type: SiteQuality
SIO_000300: 1.091e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755864587722995e-5
allele num: 56952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.756e0

QD
type: SiteQuality
SIO_000300: 1.568e1

DP
type: SiteQuality
SIO_000300: 1.040887e6

FS
type: SiteQuality
SIO_000300: 3.087e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 8.05993e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

QD
type: SiteQuality
SIO_000300: 5.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.55e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.01425e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -6.9e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.334889148191366e-4
allele num: 8570
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.576e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.241428e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 5.168e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 2.241987e6

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55865207768322e-5
allele num: 64158
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 5.168e0

DP
type: SiteQuality
SIO_000300: 2.241987e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.526e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.242473e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

FS
type: SiteQuality
SIO_000300: 2.633e0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.253124e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549762886278399e-5
allele num: 64526
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.042e0

DP
type: SiteQuality
SIO_000300: 2.25372e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 2.259762e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.161e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.096e1

FS
type: SiteQuality
SIO_000300: 1.284e0

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.096e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.161e0

FS
type: SiteQuality
SIO_000300: 1.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

DP
type: SiteQuality
SIO_000300: 2.259762e6

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

DP
type: SiteQuality
SIO_000300: 2.260072e6

FS
type: SiteQuality
SIO_000300: 2.969e0

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.264927e6

MQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.121e0

QD
type: SiteQuality
SIO_000300: 6.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013171225937183e-4
allele num: 9870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.577e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 1.291e0

DP
type: SiteQuality
SIO_000300: 2.266764e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.167e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

DP
type: SiteQuality
SIO_000300: 2.270585e6

QD
type: SiteQuality
SIO_000300: 1.111e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 1.685e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.083280104632418e-5
allele num: 65754
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.696e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.272476e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.122e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.274768e6

QD
type: SiteQuality
SIO_000300: 1.175e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.487e0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.964250638381458e-4
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66088
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.487e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 2.276899e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.694e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 2.278148e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

DP
type: SiteQuality
SIO_000300: 2.279306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.16e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 7.24e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.950880444856349e-4
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 2.627e0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 2.280449e6

European (Non-Finnish)
type: Population
allele count: 6731
allele frequency: 1.013643756400217e-1
allele num: 66404
num of homozygotes: 359

East Asian
type: Population
allele count: 243
allele frequency: 2.814454482279361e-2
allele num: 8634
num of homozygotes: 3

Other
type: Population
allele count: 112
allele frequency: 1.241685144124169e-1
allele num: 902
num of homozygotes: 3

South Asian
type: Population
allele count: 3106
allele frequency: 1.881284070260448e-1
allele num: 16510
num of homozygotes: 322

European (Finnish)
type: Population
allele count: 922
allele frequency: 1.394856278366112e-1
allele num: 6610
num of homozygotes: 69

VQSLOD
type: SiteQuality
SIO_000300: 7.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.67e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 3.085171e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.284e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.829e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.924e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.879438e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 2.499e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.926e0

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 3.321e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.879624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.879624e6

FS
type: SiteQuality
SIO_000300: 3.321e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.926e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010869237948996e-5
allele num: 66426
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

DP
type: SiteQuality
SIO_000300: 1.879023e6

QD
type: SiteQuality
SIO_000300: 1.725e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

DP
type: SiteQuality
SIO_000300: 1.879023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

QD
type: SiteQuality
SIO_000300: 1.725e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.485e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.379e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.879159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 7.67e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 1.882268e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 4.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.882268e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.828e-1

QD
type: SiteQuality
SIO_000300: 2.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.24e-1

FS
type: SiteQuality
SIO_000300: 2.558e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.882159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.882335e6

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.882701e6

VQSLOD
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.593999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 1.766e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.883095e6

FS
type: SiteQuality
SIO_000300: 3.281e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.883116e6

FS
type: SiteQuality
SIO_000300: 4.048e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.246417013407304e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.882596e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

FS
type: SiteQuality
SIO_000300: 1.6694e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.880286e6