17-61994900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994900
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994900
    reference: chr 17
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1227G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-34G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-61994900-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994900
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994900
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1227G>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-34G>C
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-61994901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994901
    reference: chr 17
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-35C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-35C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-35C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-35C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-35C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1226C>T
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-61994907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994907
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-41C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-41C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-41C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-41C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1220C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-41C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-61994908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994908
    reference: chr 17
allele count: 449
allele frequency: 3.698334513944945e-3
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-42A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-42A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-42A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1219A>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-42A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-42A>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 42529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 7.75e1
  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: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 447
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-61994912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994912
    reference: chr 17
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1215C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-46C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-46C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-46C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-46C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-46C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-61994915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994915
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-49G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1212G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-49G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-49G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-49G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-49G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41121
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-61994916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61994916
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61994916
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1211G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.337-50G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.818-50G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.412-50G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-50G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.457-50G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-61995074-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995074
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+46T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1053T>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+46T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+46T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+46T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-208T>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

17-61995085-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995085
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995085
    reference: chr 17
allele count: 13
allele frequency: 1.071652323012497e-4
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+35C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+35C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-219C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+35C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+35C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1042C>G
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21449
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

17-61995086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995086
    reference: chr 17
allele count: 7
allele frequency: 5.770245317858085e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1041G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-220G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+34G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+34G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21445
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-61995086-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995086
    reference: chr 17
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-220G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+34G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1041G>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+34G>C
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-61995089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995089
    reference: chr 17
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+31G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1038G>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+31G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+31G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-223G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+31G>C
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-61995090-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995090
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+30T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+30T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-224T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+30T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+30T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1037T>G
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-61995091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995091
    reference: chr 17
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+29C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1036C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-225C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+29C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+29C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+29C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21446
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-61995093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995093
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1034T>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-227T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+27T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+27T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+27T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+27T>C
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-61995094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995094
    reference: chr 17
allele count: 10
allele frequency: 8.24334350012365e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+26A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-228A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+26A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+26A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+26A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1033A>G
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21447
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-61995098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995098
    reference: chr 17
allele count: 2720
allele frequency: 2.242226398918456e-2
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+22C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-232C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1029C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+22C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+22C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+22C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 6.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 9.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 7.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 8.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 21733
  bin: 9.75e1
  variant carriers: 1704
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 8.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55606
  bin: 9.75e1
  variant carriers: 2664
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 54
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

17-61995098-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995098
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+22C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+22C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-232C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+22C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1029C>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+22C>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21733
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-61995098-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995098
    reference: chr 17
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+22C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-232C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+22C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+22C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1029C>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+22C>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21733
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55606
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-61995101-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995101
    reference: chr 17
allele count: 991
allele frequency: 8.168749381779816e-3
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+19G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-235G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+19G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1026G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+19G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+19G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 9.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 8.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 8.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 9.75e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 51
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-61995101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995101
    reference: chr 17
allele count: 17
allele frequency: 1.401299086682713e-4
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1026G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+19G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+19G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+19G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-235G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+19G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55460
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-61995102-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995102
    reference: chr 17
allele count: 183
allele frequency: 1.50845725213492e-3
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+18G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+18G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1025G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-236G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+18G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+18G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55334
  bin: 9.75e1
  variant carriers: 181
num of homozygotes: 2
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-61995104-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995104
    reference: chr 17
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1023G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+16G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-238G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+16G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+16G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+16G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-61995104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995104
    reference: chr 17
allele count: 3
allele frequency: 2.472799208704253e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1023G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+16G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+16G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-238G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+16G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+16G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20929
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55332
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-61995108-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995108
    reference: chr 17
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-242G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+12G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+12G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+12G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1019G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+12G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20939
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-61995108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995108
    reference: chr 17
allele count: 59
allele frequency: 4.86325194942218e-4
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+12G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1019G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+12G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+12G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-242G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+12G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20939
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1896
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
  all individuals: 495
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55333
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-61995109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995109
    reference: chr 17
allele count: 6
allele frequency: 4.945761482409575e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-243C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+11C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+11C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1018C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+11C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+11C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20913
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55330
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-61995110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995110
    reference: chr 17
allele count: 8
allele frequency: 6.593696426216537e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1017G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817+10G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-244G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336+10G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411+10G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456+10G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55330
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/17-61995120-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995120
    reference: chr 17
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.411G>T
  hgvsp: ENST00000458650.2:c.411G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1007G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.456G>T
  hgvsp: ENST00000323322.5:c.456G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.817G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.336G>T
  hgvsp: ENST00000351388.4:c.336G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-254G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20908
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.456G>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-61995122-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995122
    reference: chr 17
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1005G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.454G>T
  hgvsp: ENSP00000312673.5:p.Gly152Trp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.409G>T
  hgvsp: ENSP00000408486.2:p.Gly137Trp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.815G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.334G>T
  hgvsp: ENSP00000343791.4:p.Gly112Trp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-256G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20911
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55329
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly152Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-61995126-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995126
    reference: chr 17
allele count: 9
allele frequency: 7.416808135414435e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+1001G>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.405G>C
  hgvsp: ENST00000458650.2:c.405G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-260G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.450G>C
  hgvsp: ENST00000323322.5:c.450G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.811G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.330G>C
  hgvsp: ENST00000351388.4:c.330G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20911
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55329
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-61995129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995129
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995129
    reference: chr 17
allele count: 1059
allele frequency: 8.726967069914625e-3
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-263G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.808G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.402G>A
  hgvsp: ENST00000458650.2:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.447G>A
  hgvsp: ENST00000323322.5:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.327G>A
  hgvsp: ENST00000351388.4:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+998G>A
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 21059
  bin: 9.75e1
  variant carriers: 641
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 8.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 8.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55405
  bin: 9.75e1
  variant carriers: 1028
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr149Thr
num of homozygotes: 30
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

17-61995130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995130
    reference: chr 17
allele count: 13
allele frequency: 1.071263761619092e-4
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+997C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.807C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.446C>T
  hgvsp: ENSP00000312673.5:p.Thr149Met
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.401C>T
  hgvsp: ENSP00000408486.2:p.Thr134Met
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.326C>T
  hgvsp: ENSP00000343791.4:p.Thr109Met
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-264C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  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: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55264
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr149Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-61995140-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995140
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.316G>T
  hgvsp: ENSP00000343791.4:p.Gly106Cys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-274G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.391G>T
  hgvsp: ENSP00000408486.2:p.Gly131Cys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.797G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+987G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.436G>T
  hgvsp: ENSP00000312673.5:p.Gly146Cys
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly146Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-61995140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995140
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.436G>A
  hgvsp: ENSP00000312673.5:p.Gly146Ser
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.391G>A
  hgvsp: ENSP00000408486.2:p.Gly131Ser
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+987G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-274G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.797G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.316G>A
  hgvsp: ENSP00000343791.4:p.Gly106Ser
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly146Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-61995141-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995141
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995141
    reference: chr 17
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.315A>T
  hgvsp: ENSP00000343791.4:p.Glu105Asp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+986A>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.435A>T
  hgvsp: ENSP00000312673.5:p.Glu145Asp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-275A>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.390A>T
  hgvsp: ENSP00000408486.2:p.Glu130Asp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.796A>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20702
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu145Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

17-61995150-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995150
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995150
    reference: chr 17
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.787C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-284C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.306C>G
  hgvsp: ENSP00000343791.4:p.Asp102Glu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+977C>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.426C>G
  hgvsp: ENSP00000312673.5:p.Asp142Glu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.381C>G
  hgvsp: ENSP00000408486.2:p.Asp127Glu
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20702
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp142Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

17-61995152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995152
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+975G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.785G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.424G>A
  hgvsp: ENSP00000312673.5:p.Asp142Asn
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.379G>A
  hgvsp: ENSP00000408486.2:p.Asp127Asn
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-286G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.304G>A
  hgvsp: ENSP00000343791.4:p.Asp102Asn
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp142Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-61995153-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995153
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995153
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-287G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.378G>T
  hgvsp: ENSP00000408486.2:p.Lys126Asn
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.423G>T
  hgvsp: ENSP00000312673.5:p.Lys141Asn
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+974G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.303G>T
  hgvsp: ENSP00000343791.4:p.Lys101Asn
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.784G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys141Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-61995167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995167
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995167
    reference: chr 17
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.289T>C
  hgvsp: ENSP00000343791.4:p.Tyr97His
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.409T>C
  hgvsp: ENSP00000312673.5:p.Tyr137His
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.364T>C
  hgvsp: ENSP00000408486.2:p.Tyr122His
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.770T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+960T>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-301T>C
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr137His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-61995168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995168
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995168
    reference: chr 17
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.408C>T
  hgvsp: ENST00000323322.5:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.288C>T
  hgvsp: ENST00000351388.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-302C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+959C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.769C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.363C>T
  hgvsp: ENST00000458650.2:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val136Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-61995170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995170
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995170
    reference: chr 17
allele count: 662
allele frequency: 5.454126021618771e-3
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.361G>A
  hgvsp: ENSP00000408486.2:p.Val121Ile
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.286G>A
  hgvsp: ENSP00000343791.4:p.Val96Ile
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-304G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.406G>A
  hgvsp: ENSP00000312673.5:p.Val136Ile
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.767G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+957G>A
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20784
  bin: 9.75e1
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 7.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val136Ile
num of homozygotes: 2
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

17-61995171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995171
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995171
    reference: chr 17
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-305C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.766C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.405C>T
  hgvsp: ENST00000323322.5:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+956C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.285C>T
  hgvsp: ENST00000351388.4:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.360C>T
  hgvsp: ENST00000458650.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55228
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn135Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-61995173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995173
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-307A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.283A>G
  hgvsp: ENSP00000343791.4:p.Asn95Asp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.403A>G
  hgvsp: ENSP00000312673.5:p.Asn135Asp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.358A>G
  hgvsp: ENSP00000408486.2:p.Asn120Asp
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.764A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+954A>G
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20598
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn135Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-61995178-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995178
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.759A>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.398A>T
  hgvsp: ENSP00000312673.5:p.Asp133Val
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+949A>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.278A>T
  hgvsp: ENSP00000343791.4:p.Asp93Val
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-312A>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.353A>T
  hgvsp: ENSP00000408486.2:p.Asp118Val
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp133Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-61995180-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995180
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.757T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.276T>G
  hgvsp: ENST00000351388.4:c.276T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.396T>G
  hgvsp: ENST00000323322.5:c.396T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.351T>G
  hgvsp: ENST00000458650.2:c.351T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+947T>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-314T>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20598
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  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: 55225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser132Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-61995185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995185
    reference: chr 17
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+942G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.346G>A
  hgvsp: ENSP00000408486.2:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.271G>A
  hgvsp: ENSP00000343791.4:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-319G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.391G>A
  hgvsp: ENSP00000312673.5:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.752G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20598
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala131Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-61995188-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995188
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.749G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.268G>C
  hgvsp: ENSP00000343791.4:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-322G>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+939G>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.343G>C
  hgvsp: ENSP00000408486.2:p.Gly115Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.388G>C
  hgvsp: ENSP00000312673.5:p.Gly130Arg
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly130Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-61995188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995188
    reference: chr 17
allele count: 13
allele frequency: 1.071016641950898e-4
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.388G>A
  hgvsp: ENSP00000312673.5:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.343G>A
  hgvsp: ENSP00000408486.2:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.749G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.268G>A
  hgvsp: ENSP00000343791.4:p.Gly90Ser
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+939G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-322G>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55224
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly130Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-61995189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995189
    reference: chr 17
allele count: 8
allele frequency: 6.590763045591603e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.387C>T
  hgvsp: ENST00000323322.5:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.342C>T
  hgvsp: ENST00000458650.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-323C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.267C>T
  hgvsp: ENST00000351388.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.748C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+938C>T
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  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: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr129Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

17-61995189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995189
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+938C>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.748C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.342C>A
  hgvsp: ENSP00000408486.2:p.Tyr114Ter
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.267C>A
  hgvsp: ENSP00000343791.4:p.Tyr89Ter
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-323C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.387C>A
  hgvsp: ENSP00000312673.5:p.Tyr129Ter
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr129Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-61995193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995193
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.263T>C
  hgvsp: ENSP00000343791.4:p.Val88Ala
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.744T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-327T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.383T>C
  hgvsp: ENSP00000312673.5:p.Val128Ala
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+934T>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.338T>C
  hgvsp: ENSP00000408486.2:p.Val113Ala
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val128Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-61995195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995195
    reference: chr 17
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.742G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-329G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.261G>A
  hgvsp: ENST00000351388.4:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.381G>A
  hgvsp: ENST00000323322.5:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+932G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.336G>A
  hgvsp: ENST00000458650.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20597
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55222
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu127Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-61995197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995197
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995197
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.259C>T
  hgvsp: ENST00000351388.4:c.259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.740C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.334C>T
  hgvsp: ENST00000458650.2:c.334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-331C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+930C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.379C>T
  hgvsp: ENST00000323322.5:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu127Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-61995206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995206
    reference: chr 17
allele count: 6
allele frequency: 4.943398091848337e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.370G>A
  hgvsp: ENSP00000312673.5:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+921G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.731G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.250G>A
  hgvsp: ENSP00000343791.4:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-340G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.325G>A
  hgvsp: ENSP00000408486.2:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20597
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55216
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala124Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-61995207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995207
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.369C>T
  hgvsp: ENST00000323322.5:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.730C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.324C>T
  hgvsp: ENST00000458650.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.249C>T
  hgvsp: ENST00000351388.4:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-341C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+920C>T
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe123Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-61995213-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995213
    reference: chr 17
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+914T>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.724T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.318T>G
  hgvsp: ENSP00000408486.2:p.Ser106Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.363T>G
  hgvsp: ENSP00000312673.5:p.Ser121Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-347T>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.243T>G
  hgvsp: ENSP00000343791.4:p.Ser81Arg
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser121Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-61995213-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995213
    reference: chr 17
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.724T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+914T>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.243T>C
  hgvsp: ENST00000351388.4:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.318T>C
  hgvsp: ENST00000458650.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.363T>C
  hgvsp: ENST00000323322.5:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-347T>C
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser121Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

17-61995213-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995213
    reference: chr 17
allele count: 90
allele frequency: 7.415097137772505e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.318T>A
  hgvsp: ENSP00000408486.2:p.Ser106Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+914T>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.724T>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.243T>A
  hgvsp: ENSP00000343791.4:p.Ser81Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-347T>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.363T>A
  hgvsp: ENSP00000312673.5:p.Ser121Arg
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser121Arg
num of homozygotes: 2
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-61995217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995217
    reference: chr 17
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.314G>A
  hgvsp: ENSP00000408486.2:p.Arg105Lys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-351G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.359G>A
  hgvsp: ENSP00000312673.5:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.239G>A
  hgvsp: ENSP00000343791.4:p.Arg80Lys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.720G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+910G>A
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg120Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-61995221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995221
    reference: chr 17
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.235C>G
  hgvsp: ENSP00000343791.4:p.Leu79Val
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.310C>G
  hgvsp: ENSP00000408486.2:p.Leu104Val
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.355C>G
  hgvsp: ENSP00000312673.5:p.Leu119Val
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.716C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+906C>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-355C>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu119Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-61995224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995224
    reference: chr 17
allele count: 8
allele frequency: 6.590871642774756e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.352T>C
  hgvsp: ENSP00000312673.5:p.Phe118Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+903T>C
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.232T>C
  hgvsp: ENSP00000343791.4:p.Phe78Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.713T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-358T>C
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.307T>C
  hgvsp: ENSP00000408486.2:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe118Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-61995226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995226
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995226
    reference: chr 17
allele count: 13
allele frequency: 1.071051937780121e-4
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+901A>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.305A>G
  hgvsp: ENSP00000408486.2:p.Gln102Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.711A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-360A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.350A>G
  hgvsp: ENSP00000312673.5:p.Gln117Arg
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.230A>G
  hgvsp: ENSP00000343791.4:p.Gln77Arg
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55203
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln117Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-61995227-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995227
    reference: chr 17
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.710C>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.304C>A
  hgvsp: ENSP00000408486.2:p.Gln102Lys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+900C>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.229C>A
  hgvsp: ENSP00000343791.4:p.Gln77Lys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.349C>A
  hgvsp: ENSP00000312673.5:p.Gln117Lys
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-361C>A
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln117Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-61995230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995230
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.226G>T
  hgvsp: ENSP00000343791.4:p.Val76Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-364G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.301G>T
  hgvsp: ENSP00000408486.2:p.Val101Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+897G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.346G>T
  hgvsp: ENSP00000312673.5:p.Val116Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.707G>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20601
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val116Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

17-61995230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995230
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.226G>A
  hgvsp: ENSP00000343791.4:p.Val76Met
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-364G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.707G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.346G>A
  hgvsp: ENSP00000312673.5:p.Val116Met
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.301G>A
  hgvsp: ENSP00000408486.2:p.Val101Met
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+897G>A
  variant of: http://identifiers.org/hgnc/2442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val116Met
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-61995231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995231
    reference: chr 17
allele count: 15
allele frequency: 1.235849522962084e-4
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.345C>T
  hgvsp: ENST00000323322.5:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+896C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-365C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.225C>T
  hgvsp: ENST00000351388.4:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.300C>T
  hgvsp: ENST00000458650.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.706C>T
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro115Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

17-61995231-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995231
    reference: chr 17
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.345C>G
  hgvsp: ENST00000323322.5:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.225C>G
  hgvsp: ENST00000351388.4:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.300C>G
  hgvsp: ENST00000458650.2:c.300C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.706C>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+896C>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-365C>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55206
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro115Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

17-61995235-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995235
    reference: chr 17
allele count: 17
allele frequency: 1.431000521894308e-4
allele num: 118798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.296A>G
  hgvsp: ENSP00000408486.2:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+892A>G
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.341A>G
  hgvsp: ENSP00000312673.5:p.Glu114Gly
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-369A>G
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.221A>G
  hgvsp: ENSP00000343791.4:p.Glu74Gly
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.702A>G
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20692
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54187
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Glu114Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-61995237-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995237
    reference: chr 17
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-371G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.700G>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.294G>T
  hgvsp: ENST00000458650.2:c.294G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+890G>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.339G>T
  hgvsp: ENST00000323322.5:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.219G>T
  hgvsp: ENST00000351388.4:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20821
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55734
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu113Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-61995243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995243
    reference: chr 17
allele count: 14
allele frequency: 1.15330752121262e-4
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+884G>A
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.694G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-377G>A
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.288G>A
  hgvsp: ENST00000458650.2:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.333G>A
  hgvsp: ENST00000323322.5:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.213G>A
  hgvsp: ENST00000351388.4:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20823
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55735
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser111Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-61995244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61995244
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61995244
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204414
  ensembl protein: ENSP00000376569
  ensembl transcript: ENST00000392824
  gene symbol: CSHL1
  hgvsc: ENST00000392824.4:c.10+883C>T
  variant of: http://identifiers.org/hgnc/2442
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000408486
  ensembl transcript: ENST00000458650
  gene symbol: GH1
  hgvsc: ENST00000458650.2:c.287C>T
  hgvsp: ENSP00000408486.2:p.Ser96Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000312673
  ensembl transcript: ENST00000323322
  gene symbol: GH1
  hgvsc: ENST00000323322.5:c.332C>T
  hgvsp: ENSP00000312673.5:p.Ser111Leu
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000339278
  ensembl transcript: ENST00000342364
  gene symbol: GH1
  hgvsc: ENST00000342364.4:c.172-378C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259384
  ensembl transcript: ENST00000579711
  gene symbol: GH1
  hgvsc: ENST00000579711.1:n.693C>T
  variant of: http://identifiers.org/hgnc/4261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000259384
  ensembl protein: ENSP00000343791
  ensembl transcript: ENST00000351388
  gene symbol: GH1
  hgvsc: ENST00000351388.4:c.212C>T
  hgvsp: ENSP00000343791.4:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/4261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Ser111Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 41436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.647e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 5.56e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 1.478938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

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

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.647e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.478938e6

GenotypeQuality
all individuals: 7023
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

VQSLOD
type: SiteQuality
SIO_000300: -5.366e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

DP
type: SiteQuality
SIO_000300: 1.479219e6

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 1.763e0

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.569e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
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variant carriers: 0

GenotypeQuality
all individuals: 7021
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 8.75e1
variant carriers: 0

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: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.479462e6

MQ
type: SiteQuality
SIO_000300: 5.858e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.365e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 41118
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GenotypeQuality
all individuals: 980
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variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 35
allele frequency: 5.291805261566375e-3
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 254
allele frequency: 3.805927657406575e-3
allele num: 66738
num of homozygotes: 1

East Asian
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allele count: 20
allele frequency: 2.3121387283237e-3
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 2.936603903955778e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 100
allele frequency: 9.609840476648087e-3
allele num: 10406
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

VQSLOD
type: SiteQuality
SIO_000300: -1.66e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.508482e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.508481e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.722e1

FS
type: SiteQuality
SIO_000300: 7.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.179e0

VQSLOD
type: SiteQuality
SIO_000300: -1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.454e1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
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variant carriers: 1

GenotypeQuality
all individuals: 2318
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

FS
type: SiteQuality
SIO_000300: 2.918e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.186e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.621e1

DP
type: SiteQuality
SIO_000300: 1.508622e6

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 983
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variant carriers: 0

GenotypeQuality
all individuals: 2496
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variant carriers: 1

GenotypeQuality
all individuals: 2317
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variant carriers: 0

GenotypeQuality
all individuals: 41123
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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: 16512
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: 0
allele frequency: 0.0e0
allele num: 66740
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

FS
type: SiteQuality
SIO_000300: 7.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.50866e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.912e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.825e1

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 508
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variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 5.188361e6

QD
type: SiteQuality
SIO_000300: 1.559e1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
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variant carriers: 0

GenotypeQuality
all individuals: 1381
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 673
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variant carriers: 0

GenotypeQuality
all individuals: 55516
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 12
allele frequency: 1.16144018583043e-3
allele num: 10332
num of homozygotes: 0

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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.188058e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55515
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 675
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GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

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: 11578
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: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049223574554829e-4
allele num: 66716
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: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 5.187772e6

MQ
type: SiteQuality
SIO_000300: 5.728e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.491e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 88
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.187559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.642e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55513
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 5.187468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -5.786e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 5.187599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.048e0

FS
type: SiteQuality
SIO_000300: 1.3083e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55513
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 5.187573e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.451e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55513
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 507
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 3.254e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 5.187579e6

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 58
allele frequency: 5.610369510543625e-3
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 80
allele frequency: 6.909656244601831e-3
allele num: 11578
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 319
allele frequency: 4.823102509827638e-2
allele num: 6614
num of homozygotes: 5

South Asian
type: Population
allele count: 336
allele frequency: 2.034883720930233e-2
allele num: 16512
num of homozygotes: 6

Other
type: Population
allele count: 24
allele frequency: 2.649006622516556e-2
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1902
allele frequency: 2.851317722543699e-2
allele num: 66706
num of homozygotes: 42

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.357e-1

FS
type: SiteQuality
SIO_000300: 1.756e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.824e1

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

DP
type: SiteQuality
SIO_000300: 5.215236e6

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55606
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
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

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: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.215236e6

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

FS
type: SiteQuality
SIO_000300: 1.756e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

VQSLOD
type: SiteQuality
SIO_000300: -5.357e-1

MQ
type: SiteQuality
SIO_000300: 5.824e1

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 1376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 6.75e1
variant carriers: 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: 8654
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: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.756e0

VQSLOD
type: SiteQuality
SIO_000300: -5.357e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 5.215236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.824e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55460
bin: 9.75e1
variant carriers: 933

GenotypeQuality
all individuals: 1332
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
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

African
type: Population
allele count: 939
allele frequency: 9.081237911025145e-2
allele num: 10340
num of homozygotes: 51

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

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

Latino
type: Population
allele count: 44
allele frequency: 3.800310934531007e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99592277251469e-5
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 5.163297e6

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.248471039693009e-4
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 5.163297e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 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

East Asian
type: Population
allele count: 178
allele frequency: 2.056852322625376e-2
allele num: 8654
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

DP
type: SiteQuality
SIO_000300: 5.15528e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 5.151351e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
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GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

DP
type: SiteQuality
SIO_000300: 5.151351e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

DP
type: SiteQuality
SIO_000300: 5.152679e6

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 49
allele frequency: 2.967538759689923e-3
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.152679e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.285e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 5.151183e6

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 554
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

DP
type: SiteQuality
SIO_000300: 5.151051e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.607e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 55328
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.674e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.141e0

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

DP
type: SiteQuality
SIO_000300: 5.151915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 6.25e1
variant carriers: 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: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 1.096e0

QD
type: SiteQuality
SIO_000300: 1.285e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 5.152225e6

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
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GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.720517274657402e-4
allele num: 10362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.152625e6

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

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

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 723
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GenotypeQuality
all individuals: 532
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GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 1693
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 624
allele frequency: 6.019679722168628e-2
allele num: 10366
num of homozygotes: 26

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

Latino
type: Population
allele count: 89
allele frequency: 7.686992572119537e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 2.725290697674419e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 297
allele frequency: 4.451705737754062e-3
allele num: 66716
num of homozygotes: 3

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 1.192e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 5.169026e6

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 553
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GenotypeQuality
all individuals: 537
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GenotypeQuality
all individuals: 556
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 5.140682e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.425e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 756
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 429
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GenotypeQuality
all individuals: 558
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GenotypeQuality
all individuals: 55262
bin: 9.75e1
variant carriers: 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: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 1.106e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.155e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 5.141335e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.106e0

DP
type: SiteQuality
SIO_000300: 5.141335e6

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.668e0

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 5.141211e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 8.25e1
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

East Asian
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allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 5.141625e6

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 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: 11578
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 2.473e0

DP
type: SiteQuality
SIO_000300: 5.141551e6

GenotypeQuality
all individuals: 1947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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

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

QD
type: SiteQuality
SIO_000300: 1.139e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -2.253e0

FS
type: SiteQuality
SIO_000300: 1.2465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.141574e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.334e0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

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: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.01e0

VQSLOD
type: SiteQuality
SIO_000300: -8.476e-1

FS
type: SiteQuality
SIO_000300: 9.268000000000001e0

QD
type: SiteQuality
SIO_000300: 1.665e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.142096e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 762
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 66722
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: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.214e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.142137e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.949e0

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55290
bin: 9.75e1
variant carriers: 660

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.176043557168784e-3
allele num: 6612
num of homozygotes: 1

African
type: Population
allele count: 12
allele frequency: 1.154512218587647e-3
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 519
allele frequency: 7.778776978417266e-3
allele num: 66720
num of homozygotes: 1

Latino
type: Population
allele count: 99
allele frequency: 8.550699602694766e-3
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.150526e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1959
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 541
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.135097e6

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 1.394e0

QD
type: SiteQuality
SIO_000300: 1.47e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 1970
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 6.75e1
variant carriers: 0

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: 10394
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East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 5.134931e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 2.668e0

VQSLOD
type: SiteQuality
SIO_000300: -2.636e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.491e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 5.134867e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 1.5309e1

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 16512
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

FS
type: SiteQuality
SIO_000300: 1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.222e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

DP
type: SiteQuality
SIO_000300: 5.134888e6

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.926e1

DP
type: SiteQuality
SIO_000300: 5.134912e6

QD
type: SiteQuality
SIO_000300: 1.526e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 4.067e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 540
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GenotypeQuality
all individuals: 1943
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.406e1

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 5.135002e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 3.25e1
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GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.886280546469117e-4
allele num: 10394
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 5.135002e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55224
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 5.134765e6

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 2.481e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.481e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 5.134765e6

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.629e1

VQSLOD
type: SiteQuality
SIO_000300: -2.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.134551e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 2.596e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
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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: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

ClippingRankSum
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BaseQRankSum
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SIO_000300: -3.842e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.134412e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

East Asian
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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: 11578
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.75e1
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GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
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: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 5.133988e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.887e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 55214
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
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GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 5.134001e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 55220
bin: 9.75e1
variant carriers: 3

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 5.134261e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

QD
type: SiteQuality
SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55220
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variant carriers: 3

GenotypeQuality
all individuals: 561
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 1.136e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

DP
type: SiteQuality
SIO_000300: 5.134261e6

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55220
bin: 9.75e1
variant carriers: 88

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 88
allele frequency: 8.461538461538461e-3
allele num: 10400
num of homozygotes: 2

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: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.136e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 5.134261e6

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
all individuals: 55204
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 537
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GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 506
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variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
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: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 5.133393e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

FS
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 537
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variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 66714
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: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 2.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.547e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 5.133026e6

VQSLOD
type: SiteQuality
SIO_000300: -3.576e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.875e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

European (Finnish)
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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: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 5.132936e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 5.744e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 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: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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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: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.948674901067274e-4
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.874e1

DP
type: SiteQuality
SIO_000300: 5.132988e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 736
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GenotypeQuality
all individuals: 90
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.696e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.149e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 5.132719e6

VQSLOD
type: SiteQuality
SIO_000300: -1.631e-1

FS
type: SiteQuality
SIO_000300: 9.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 438
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GenotypeQuality
all individuals: 562
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GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 498
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 5.133198e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.145e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.634e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 7.89e0

QD
type: SiteQuality
SIO_000300: 1.188e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 66710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 5.133198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.634e0

FS
type: SiteQuality
SIO_000300: 7.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.145e0

QD
type: SiteQuality
SIO_000300: 1.188e1

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55206
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498890820792614e-4
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.133455e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 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: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
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

QD
type: SiteQuality
SIO_000300: 1.285e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 5.133455e6

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
all individuals: 473
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 592
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.626545217957059e-4
allele num: 6148
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.018485031143259e-4
allele num: 9954
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.687116564417178e-4
allele num: 65200
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.992e2

FS
type: SiteQuality
SIO_000300: 2.50523e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.324e0

QD
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 5.148321e6

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
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: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 5.545e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 5.163907e6

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.496e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.33e0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199004825994425e-4
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.831e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.703e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.164319e6