17-61957935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957935
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957935
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.653G>A
  hgvsp: ENSP00000333157.7:p.Arg218Lys
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-57G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-57G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-57G>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg218Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-61957938-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957938
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957938
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-60A>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.650A>T
  hgvsp: ENSP00000333157.7:p.Glu217Val
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-60A>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-60A>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu217Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-61957944-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957944
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-66T>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-66T>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-66T>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.644T>C
  hgvsp: ENSP00000333157.7:p.Met215Thr
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met215Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

17-61957946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957946
    reference: chr 17
allele count: 315
allele frequency: 2.59481366766615e-3
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.642G>A
  hgvsp: ENSP00000333157.7:p.Trp214Ter
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-68G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-68G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-68G>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 40561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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: 4
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 9.75e1
  variant carriers: 313
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp214Ter
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-61957956-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957956
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-78G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-78G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-78G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.632G>C
  hgvsp: ENSP00000333157.7:p.Gly211Ala
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  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: 2845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly211Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-61957961-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957961
    reference: chr 17
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-83G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-83G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-83G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.627G>C
  hgvsp: ENST00000332800.7:c.627G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly209Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-61957962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957962
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-84G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-84G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.626G>A
  hgvsp: ENSP00000333157.7:p.Gly209Glu
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-84G>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7095
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly209Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

17-61957963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957963
    reference: chr 17
allele count: 31
allele frequency: 2.553626149131767e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-85G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-85G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.625G>A
  hgvsp: ENSP00000333157.7:p.Gly209Arg
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-85G>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 40168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly209Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-61957965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957965
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957965
    reference: chr 17
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-87G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-87G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-87G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.623G>A
  hgvsp: ENSP00000333157.7:p.Gly208Glu
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly208Glu
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: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-61957968-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957968
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-90C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-90C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-90C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.620C>G
  hgvsp: ENSP00000333157.7:p.Pro207Arg
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro207Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-61957969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957969
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957969
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-91C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-91C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-91C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.619C>T
  hgvsp: ENSP00000333157.7:p.Pro207Ser
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro207Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-61957970-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957970
    reference: chr 17
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-92A>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-92A>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-92A>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.618A>C
  hgvsp: ENSP00000333157.7:p.Gln206His
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln206His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-61957980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957980
    reference: chr 17
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-102T>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.608T>C
  hgvsp: ENSP00000333157.7:p.Leu203Pro
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-102T>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-102T>C
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu203Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-61957982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957982
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-104C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.606C>T
  hgvsp: ENST00000332800.7:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-104C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-104C>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly202Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-61957982-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957982
    reference: chr 17
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-104C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-104C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-104C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.606C>A
  hgvsp: ENST00000332800.7:c.606C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly202Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-61957990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957990
    reference: chr 17
allele count: 76
allele frequency: 6.260709107684196e-4
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.598C>T
  hgvsp: ENSP00000333157.7:p.Pro200Ser
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-112C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-112C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-112C>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro200Ser
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

17-61957996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957996
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-118G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.592G>A
  hgvsp: ENSP00000333157.7:p.Val198Met
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-118G>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-118G>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.25e1
  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: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40285
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val198Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-61957997-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957997
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-119C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-119C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.591C>G
  hgvsp: ENST00000332800.7:c.591C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-119C>G
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu197Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-61957997-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61957997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61957997
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-119C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-119C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.591C>A
  hgvsp: ENST00000332800.7:c.591C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-119C>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu197Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-61958000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958000
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.588C>T
  hgvsp: ENST00000332800.7:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-122C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-122C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-122C>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro196Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-61958001-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958001
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-123C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.587C>G
  hgvsp: ENSP00000333157.7:p.Pro196Arg
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-123C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-123C>G
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  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: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro196Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-61958002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958002
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.453-124C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.412-124C>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.586C>T
  hgvsp: ENSP00000333157.7:p.Pro196Ser
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.457-124C>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  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: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro196Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-61958008-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958008
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+128T>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+124T>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+124T>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.580T>A
  hgvsp: ENSP00000333157.7:p.Ser194Thr
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser194Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-61958015-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958015
    reference: chr 17
allele count: 20
allele frequency: 1.647582173160886e-4
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+117G>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.573G>T
  hgvsp: ENST00000332800.7:c.573G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+117G>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+121G>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  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: 40312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 20
hgvs: p.Pro191Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-61958016-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958016
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+120C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+116C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.572C>G
  hgvsp: ENSP00000333157.7:p.Pro191Arg
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+116C>G
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40326
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro191Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-61958025-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958025
    reference: chr 17
allele count: 10
allele frequency: 8.237775141689732e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+107A>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+111A>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.563A>G
  hgvsp: ENSP00000333157.7:p.Glu188Gly
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+107A>G
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu188Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

17-61958028-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958028
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+104A>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+104A>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+108A>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.560A>T
  hgvsp: ENSP00000333157.7:p.Gln187Leu
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln187Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-61958029-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958029
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+107C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.559C>G
  hgvsp: ENSP00000333157.7:p.Gln187Glu
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+103C>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+103C>G
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln187Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-61958031-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958031
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+105C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+101C>A
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.557C>A
  hgvsp: ENSP00000333157.7:p.Thr186Asn
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+101C>A
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr186Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

17-61958032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958032
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+100A>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.556A>G
  hgvsp: ENSP00000333157.7:p.Thr186Ala
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+104A>G
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+100A>G
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr186Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-61958036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958036
    reference: chr 17
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+96G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+96G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+100G>C
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.552G>C
  hgvsp: ENST00000332800.7:c.552G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala184Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

17-4442716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442716
    reference: chr 17
allele count: 4
allele frequency: 3.343419314933383e-5
allele num: 119638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3981G>A
  hgvsp: ENST00000254718.4:c.3981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3963+18G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.581+18G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1549G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1476G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3721+18G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1426G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys1327Lys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-4442722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442722
    reference: chr 17
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.581+12A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3721+12A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1420A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1543A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3975A>G
  hgvsp: ENST00000254718.4:c.3975A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3963+12A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1470A>G
  variant of: http://identifiers.org/hgnc/7546
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1325Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-4442723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442723
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442723
    reference: chr 17
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1469C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3963+11C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1542C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1419C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3974C>T
  hgvsp: ENSP00000254718.4:p.Ala1325Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3721+11C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.581+11C>T
  variant of: http://identifiers.org/hgnc/7546
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1325Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-4442725-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442725
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442725
    reference: chr 17
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3963+9G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3721+9G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1540G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1467G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3972G>T
  hgvsp: ENSP00000254718.4:p.Lys1324Asn
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1417G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.581+9G>T
  variant of: http://identifiers.org/hgnc/7546
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1324Asn
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-4442734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442734
    reference: chr 17
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1531G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.581G>A
  hgvsp: ENST00000573723.1:c.581G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3721G>A
  hgvsp: ENST00000573116.1:c.3721G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3963G>A
  hgvsp: ENST00000254718.4:c.3963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1408G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3963G>A
  hgvsp: ENST00000381556.2:c.3963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.746G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1458G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3963G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-4442737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442737
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442737
    reference: chr 17
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3718A>G
  hgvsp: ENST00000573116.1:c.3718A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1405A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3960A>G
  hgvsp: ENST00000254718.4:c.3960A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3960A>G
  hgvsp: ENST00000381556.2:c.3960A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1455A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.578A>G
  hgvsp: ENST00000573723.1:c.578A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1528A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.743A>G
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10783
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1320Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-4442739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442739
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442739
    reference: chr 17
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.741G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3716G>A
  hgvsp: ENSP00000458919.1:p.Ala1240Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3958G>A
  hgvsp: ENSP00000254718.4:p.Ala1320Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3958G>A
  hgvsp: ENSP00000370968.2:p.Ala1320Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.576G>A
  hgvsp: ENSP00000459692.1:p.Ala193Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1453G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1403G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1526G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1320Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-4442748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442748
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442748
    reference: chr 17
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3707A>G
  hgvsp: ENSP00000458919.1:p.Lys1237Glu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.567A>G
  hgvsp: ENSP00000459692.1:p.Lys190Glu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1394A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.732A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1517A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3949A>G
  hgvsp: ENSP00000254718.4:p.Lys1317Glu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3949A>G
  hgvsp: ENSP00000370968.2:p.Lys1317Glu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1444A>G
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys1317Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-4442751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442751
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442751
    reference: chr 17
allele count: 4
allele frequency: 3.300874731803928e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3704G>A
  hgvsp: ENSP00000458919.1:p.Ala1236Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.729G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1441G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1514G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.564G>A
  hgvsp: ENSP00000459692.1:p.Ala189Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3946G>A
  hgvsp: ENSP00000254718.4:p.Ala1316Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3946G>A
  hgvsp: ENSP00000370968.2:p.Ala1316Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1391G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1316Thr
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-61958036-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61958036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61958036
    reference: chr 17
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000333157
  ensembl transcript: ENST00000332800
  gene symbol: GH2
  hgvsc: ENST00000332800.7:c.552G>T
  hgvsp: ENST00000332800.7:c.552G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000394122
  ensembl transcript: ENST00000456543
  gene symbol: GH2
  hgvsc: ENST00000456543.2:c.452+100G>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000409294
  ensembl transcript: ENST00000423893
  gene symbol: GH2
  hgvsc: ENST00000423893.2:c.456+96G>T
  variant of: http://identifiers.org/hgnc/4262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136487
  ensembl protein: ENSP00000410618
  ensembl transcript: ENST00000449787
  gene symbol: GH2
  hgvsc: ENST00000449787.2:c.411+96G>T
  variant of: http://identifiers.org/hgnc/4262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala184Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-4442756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442756
    reference: chr 17
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3699G>A
  hgvsp: ENSP00000458919.1:p.Ser1234Asn
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1386G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1436G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3941G>A
  hgvsp: ENSP00000254718.4:p.Ser1314Asn
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1509G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.724G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3941G>A
  hgvsp: ENSP00000370968.2:p.Ser1314Asn
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.559G>A
  hgvsp: ENSP00000459692.1:p.Ser187Asn
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1314Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

17-4442757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442757
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442757
    reference: chr 17
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3940A>G
  hgvsp: ENSP00000370968.2:p.Ser1314Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.558A>G
  hgvsp: ENSP00000459692.1:p.Ser187Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1508A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3940A>G
  hgvsp: ENSP00000254718.4:p.Ser1314Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1385A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1435A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3698A>G
  hgvsp: ENSP00000458919.1:p.Ser1234Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.723A>G
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1314Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-4442759-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442759
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442759
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1383A>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1506A>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.721A>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1433A>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3938A>T
  hgvsp: ENSP00000254718.4:p.Gln1313Leu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3696A>T
  hgvsp: ENSP00000458919.1:p.Gln1233Leu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3938A>T
  hgvsp: ENSP00000370968.2:p.Gln1313Leu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.556A>T
  hgvsp: ENSP00000459692.1:p.Gln186Leu
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln1313Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-4442760-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442760
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442758
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3935_3936delTT
  hgvsp: ENSP00000254718.4:p.Leu1312ProfsTer32
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.553_554delTT
  hgvsp: ENSP00000459692.1:p.Leu185ProfsTer19
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1430_1431delTT
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3935_3936delTT
  hgvsp: ENSP00000370968.2:p.Leu1312ProfsTer19
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1380_1381delTT
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3693_3694delTT
  hgvsp: ENSP00000458919.1:p.Leu1232ProfsTer19
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1503_1504delTT
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.718_719delTT
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1312ProfsTer19
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: GAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-4442763-G-GTCAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442763
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442767
    reference: chr 17
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: GTCAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1428_1429insATGA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.551_552insATGA
  hgvsp: ENSP00000459692.1:p.Leu185MetfsTer21
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.716_717insATGA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1501_1502insATGA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3933_3934insATGA
  hgvsp: ENSP00000254718.4:p.Leu1312MetfsTer34
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3933_3934insATGA
  hgvsp: ENSP00000370968.2:p.Leu1312MetfsTer21
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1378_1379insATGA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3691_3692insATGA
  hgvsp: ENSP00000458919.1:p.Leu1232MetfsTer21
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  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: 1578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1312MetfsTer21
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-4442765-AGGCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442760
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3927_3931delCAGCC
  hgvsp: ENSP00000370968.2:p.Ser1310AlafsTer20
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1372_1376delCAGCC
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3927_3931delCAGCC
  hgvsp: ENSP00000254718.4:p.Ser1310AlafsTer33
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.710_714delCAGCC
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3685_3689delCAGCC
  hgvsp: ENSP00000458919.1:p.Ser1230AlafsTer20
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1422_1426delCAGCC
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.545_549delCAGCC
  hgvsp: ENSP00000459692.1:p.Ser183AlafsTer20
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1495_1499delCAGCC
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1310AlafsTer20
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: AGGCTG
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-4442766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442766
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.549C>T
  hgvsp: ENST00000573723.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3931C>T
  hgvsp: ENST00000381556.2:c.3931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3689C>T
  hgvsp: ENST00000573116.1:c.3689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3931C>T
  hgvsp: ENST00000254718.4:c.3931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1499C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.714C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1426C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1376C>T
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1311Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-4442770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442770
    reference: chr 17
allele count: 28
allele frequency: 2.307147212471779e-4
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3685C>T
  hgvsp: ENST00000573116.1:c.3685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.710C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1372C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3927C>T
  hgvsp: ENST00000254718.4:c.3927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1422C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1495C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3927C>T
  hgvsp: ENST00000381556.2:c.3927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.545C>T
  hgvsp: ENST00000573723.1:c.545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.25e1
  variant carriers: 1
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: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1309Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-4442774-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442774
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442774
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.541G>C
  hgvsp: ENSP00000459692.1:p.Ser181Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1491G>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3923G>C
  hgvsp: ENSP00000254718.4:p.Ser1308Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1418G>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.706G>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1368G>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3681G>C
  hgvsp: ENSP00000458919.1:p.Ser1228Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3923G>C
  hgvsp: ENSP00000370968.2:p.Ser1308Thr
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1308Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

17-4442775-T-TCCCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442780
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: TCCCAG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3921_3922insCTGGG
  hgvsp: ENSP00000370968.2:p.Ser1308LeufsTer18
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1416_1417insCTGGG
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3921_3922insCTGGG
  hgvsp: ENSP00000254718.4:p.Ser1308LeufsTer17
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1489_1490insCTGGG
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3679_3680insCTGGG
  hgvsp: ENSP00000458919.1:p.Ser1228LeufsTer18
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1366_1367insCTGGG
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.539_540insCTGGG
  hgvsp: ENSP00000459692.1:p.Ser181LeufsTer18
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.704_705insCTGGG
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39177
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1308LeufsTer18
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: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-4442778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442778
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1414A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3677A>G
  hgvsp: ENSP00000458919.1:p.Arg1227Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.537A>G
  hgvsp: ENSP00000459692.1:p.Arg180Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3919A>G
  hgvsp: ENSP00000370968.2:p.Arg1307Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3919A>G
  hgvsp: ENSP00000254718.4:p.Arg1307Gly
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1364A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.702A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1487A>G
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1307Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-4442778-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442778
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1487A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1364A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3919A>C
  hgvsp: ENST00000254718.4:c.3919A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1414A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3919A>C
  hgvsp: ENST00000381556.2:c.3919A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.537A>C
  hgvsp: ENST00000573723.1:c.537A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3677A>C
  hgvsp: ENST00000573116.1:c.3677A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.702A>C
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1307Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

17-4442779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442779
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3918C>T
  hgvsp: ENST00000381556.2:c.3918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3918C>T
  hgvsp: ENST00000254718.4:c.3918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1486C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.536C>T
  hgvsp: ENST00000573723.1:c.536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.701C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1413C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3676C>T
  hgvsp: ENST00000573116.1:c.3676C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1363C>T
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.25e1
  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: 11408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1306Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-4442779-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442779
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3918C>G
  hgvsp: ENSP00000254718.4:p.Ile1306Met
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.701C>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3676C>G
  hgvsp: ENSP00000458919.1:p.Ile1226Met
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1363C>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1413C>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3918C>G
  hgvsp: ENSP00000370968.2:p.Ile1306Met
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.536C>G
  hgvsp: ENSP00000459692.1:p.Ile179Met
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1486C>G
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1306Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-4442779-GATGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442775
    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: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1359_1362delTCAT
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3672_3675delTCAT
  hgvsp: ENSP00000458919.1:p.Val1225AlafsTer18
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3914_3917delTCAT
  hgvsp: ENSP00000254718.4:p.Val1305AlafsTer17
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1409_1412delTCAT
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1482_1485delTCAT
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.532_535delTCAT
  hgvsp: ENSP00000459692.1:p.Val178AlafsTer18
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3914_3917delTCAT
  hgvsp: ENSP00000370968.2:p.Val1305AlafsTer18
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.697_700delTCAT
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1305AlafsTer18
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: GATGA
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-4442780-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442780
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442780
    reference: chr 17
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.700T>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1485T>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3675T>G
  hgvsp: ENSP00000458919.1:p.Ile1226Ser
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.535T>G
  hgvsp: ENSP00000459692.1:p.Ile179Ser
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3917T>G
  hgvsp: ENSP00000254718.4:p.Ile1306Ser
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1412T>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1362T>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3917T>G
  hgvsp: ENSP00000370968.2:p.Ile1306Ser
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile1306Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-4442781-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442781
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442781
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3916A>C
  hgvsp: ENSP00000370968.2:p.Ile1306Leu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1361A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.699A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3916A>C
  hgvsp: ENSP00000254718.4:p.Ile1306Leu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3674A>C
  hgvsp: ENSP00000458919.1:p.Ile1226Leu
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1411A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1484A>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.534A>C
  hgvsp: ENSP00000459692.1:p.Ile179Leu
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1306Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-4442784-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442784
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442786
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1480_1481insAA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1407_1408insAA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3912_3913insAA
  hgvsp: ENSP00000370968.2:p.Val1305LysfsTer20
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1357_1358insAA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.695_696insAA
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3912_3913insAA
  hgvsp: ENSP00000254718.4:p.Val1305LysfsTer19
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3670_3671insAA
  hgvsp: ENSP00000458919.1:p.Val1225LysfsTer20
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.530_531insAA
  hgvsp: ENSP00000459692.1:p.Val178LysfsTer20
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1305LysfsTer20
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-4442791-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442791
    reference: chr 17
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3906G>T
  hgvsp: ENST00000254718.4:c.3906G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3664G>T
  hgvsp: ENST00000573116.1:c.3664G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1351G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.524G>T
  hgvsp: ENST00000573723.1:c.524G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.689G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1474G>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3906G>T
  hgvsp: ENST00000381556.2:c.3906G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1401G>T
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11417
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1302Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-4442792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442792
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1473T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3905T>C
  hgvsp: ENSP00000370968.2:p.Leu1302Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1400T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.688T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.523T>C
  hgvsp: ENSP00000459692.1:p.Leu175Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3663T>C
  hgvsp: ENSP00000458919.1:p.Leu1222Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1350T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3905T>C
  hgvsp: ENSP00000254718.4:p.Leu1302Pro
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39181
  bin: 9.75e1
  variant carriers: 1
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: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1302Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-4442793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442793
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.687C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.522C>T
  hgvsp: ENST00000573723.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3904C>T
  hgvsp: ENST00000254718.4:c.3904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1349C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1472C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1399C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3662C>T
  hgvsp: ENST00000573116.1:c.3662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3904C>T
  hgvsp: ENST00000381556.2:c.3904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1302Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-4442798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442798
    reference: chr 17
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3899C>T
  hgvsp: ENSP00000370968.2:p.Ala1300Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1344C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.517C>T
  hgvsp: ENSP00000459692.1:p.Ala173Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1394C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.682C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3899C>T
  hgvsp: ENSP00000254718.4:p.Ala1300Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1467C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3657C>T
  hgvsp: ENSP00000458919.1:p.Ala1220Val
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1300Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-4442801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442801
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442801
    reference: chr 17
allele count: 836
allele frequency: 6.886326194398682e-3
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1391A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3896A>G
  hgvsp: ENSP00000370968.2:p.Lys1299Arg
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3896A>G
  hgvsp: ENSP00000254718.4:p.Lys1299Arg
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1464A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.679A>G
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3654A>G
  hgvsp: ENSP00000458919.1:p.Lys1219Arg
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.514A>G
  hgvsp: ENSP00000459692.1:p.Lys172Arg
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1341A>G
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 9.75e1
  variant carriers: 684
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39398
  bin: 9.75e1
  variant carriers: 801
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1299Arg
num of homozygotes: 34
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-4442807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442807
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442807
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3890G>A
  hgvsp: ENSP00000370968.2:p.Arg1297Gln
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1385G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.673G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3890G>A
  hgvsp: ENSP00000254718.4:p.Arg1297Gln
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1458G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.508G>A
  hgvsp: ENSP00000459692.1:p.Arg170Gln
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3648G>A
  hgvsp: ENSP00000458919.1:p.Arg1217Gln
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1335G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1297Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

17-4442808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442808
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442808
    reference: chr 17
allele count: 15
allele frequency: 1.235584843492587e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3647C>T
  hgvsp: ENSP00000458919.1:p.Arg1217Trp
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1457C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1334C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1384C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3889C>T
  hgvsp: ENSP00000370968.2:p.Arg1297Trp
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3889C>T
  hgvsp: ENSP00000254718.4:p.Arg1297Trp
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.507C>T
  hgvsp: ENSP00000459692.1:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.672C>T
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1297Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-4442808-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442808
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442808
    reference: chr 17
allele count: 10
allele frequency: 8.237232289950576e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3889C>A
  hgvsp: ENST00000254718.4:c.3889C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1384C>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.507C>A
  hgvsp: ENST00000573723.1:c.507C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1334C>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.672C>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3889C>A
  hgvsp: ENST00000381556.2:c.3889C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3647C>A
  hgvsp: ENST00000573116.1:c.3647C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1457C>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 11432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1297Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-4442810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442810
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3887C>T
  hgvsp: ENSP00000254718.4:p.Ala1296Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1332C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.670C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3645C>T
  hgvsp: ENSP00000458919.1:p.Ala1216Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3887C>T
  hgvsp: ENSP00000370968.2:p.Ala1296Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.505C>T
  hgvsp: ENSP00000459692.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1455C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1382C>T
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1296Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-4442815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442815
    reference: chr 17
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3882G>A
  hgvsp: ENST00000381556.2:c.3882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1377G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3640G>A
  hgvsp: ENST00000573116.1:c.3640G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3882G>A
  hgvsp: ENST00000254718.4:c.3882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1450G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.500G>A
  hgvsp: ENST00000573723.1:c.500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.665G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  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: 3094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1294Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-4442816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442816
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442816
    reference: chr 17
allele count: 33
allele frequency: 2.71828665568369e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.499C>T
  hgvsp: ENSP00000459692.1:p.Ala167Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3881C>T
  hgvsp: ENSP00000254718.4:p.Ala1294Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.664C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1326C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1376C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3639C>T
  hgvsp: ENSP00000458919.1:p.Ala1214Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3881C>T
  hgvsp: ENSP00000370968.2:p.Ala1294Val
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1449C>T
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1294Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-4442817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442817
    reference: chr 17
allele count: 123
allele frequency: 1.013179571663921e-3
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3880G>A
  hgvsp: ENSP00000370968.2:p.Ala1294Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3880G>A
  hgvsp: ENSP00000254718.4:p.Ala1294Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.498G>A
  hgvsp: ENSP00000459692.1:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1325G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1375G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3638G>A
  hgvsp: ENSP00000458919.1:p.Ala1214Thr
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.663G>A
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1448G>A
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 9.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1294Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-4442818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442818
    reference: chr 17
allele count: 3044
allele frequency: 2.507454818036541e-2
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1324C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3637C>T
  hgvsp: ENST00000573116.1:c.3637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1447C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1374C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.497C>T
  hgvsp: ENST00000573723.1:c.497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.662C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000460087
  ensembl transcript: ENST00000572759
  gene symbol: MYBBP1A
  hgvsc: ENST00000572759.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3879C>T
  hgvsp: ENST00000381556.2:c.3879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3879C>T
  hgvsp: ENST00000254718.4:c.3879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 9.75e1
  variant carriers: 2538
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1293Ser
num of homozygotes: 202
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-4442820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4442820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4442820
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574934
  gene symbol: MYBBP1A
  hgvsc: ENST00000574934.1:n.1322T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000370968
  ensembl transcript: ENST00000381556
  gene symbol: MYBBP1A
  hgvsc: ENST00000381556.2:c.3877T>C
  hgvsp: ENSP00000370968.2:p.Ser1293Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574167
  gene symbol: MYBBP1A
  hgvsc: ENST00000574167.1:n.660T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000571368
  gene symbol: MYBBP1A
  hgvsc: ENST00000571368.1:n.1372T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132382
  ensembl transcript: ENST00000574547
  gene symbol: MYBBP1A
  hgvsc: ENST00000574547.1:n.1445T>C
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000254718
  ensembl transcript: ENST00000254718
  gene symbol: MYBBP1A
  hgvsc: ENST00000254718.4:c.3877T>C
  hgvsp: ENSP00000254718.4:p.Ser1293Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000458919
  ensembl transcript: ENST00000573116
  gene symbol: MYBBP1A
  hgvsc: ENST00000573116.1:c.3635T>C
  hgvsp: ENSP00000458919.1:p.Ser1213Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000459692
  ensembl transcript: ENST00000573723
  gene symbol: MYBBP1A
  hgvsc: ENST00000573723.1:c.495T>C
  hgvsp: ENSP00000459692.1:p.Ser166Pro
  variant of: http://identifiers.org/hgnc/7546
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132382
  ensembl protein: ENSP00000460087
  ensembl transcript: ENST00000572759
  gene symbol: MYBBP1A
  hgvsc: ENST00000572759.1:c.*377T>C
  variant of: http://identifiers.org/hgnc/7546
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1293Pro
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7155
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 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: 10404
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

QD
type: SiteQuality
SIO_000300: 2.003e1

MQ
type: SiteQuality
SIO_000300: 4.796e1

DP
type: SiteQuality
SIO_000300: 1.514886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.975e0

GenotypeQuality
all individuals: 982
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 8.25e1
variant carriers: 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: 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: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 5.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.873e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 7.894e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.514909e6

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
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: 10404
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: 908
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: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 4.508e0

DP
type: SiteQuality
SIO_000300: 1.514968e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

MQ
type: SiteQuality
SIO_000300: 5.385e1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 219
allele frequency: 3.281882211898696e-3
allele num: 66730
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 24
allele frequency: 2.072896873380549e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 2.968257814393022e-3
allele num: 16508
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.536359e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

MQ
type: SiteQuality
SIO_000300: 5.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.276e0

GenotypeQuality
all individuals: 40218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
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: 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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
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: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.295e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.636e1

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 1.531102e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
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: 16508
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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 2.48e1

MQ
type: SiteQuality
SIO_000300: 5.713e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

DP
type: SiteQuality
SIO_000300: 1.530918e6

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

GenotypeQuality
all individuals: 2850
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2699
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 16508
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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.662e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

QD
type: SiteQuality
SIO_000300: 4.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 1.045e0

DP
type: SiteQuality
SIO_000300: 1.531022e6

VQSLOD
type: SiteQuality
SIO_000300: -1.421e0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 9.75e1
variant carriers: 31

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

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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.756724012599952e-3
allele num: 16508
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.823e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

DP
type: SiteQuality
SIO_000300: 1.53359e6

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.741e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.268e0

VQSLOD
type: SiteQuality
SIO_000300: -2.164e0

FS
type: SiteQuality
SIO_000300: 7.222e0

QD
type: SiteQuality
SIO_000300: 1.458e1

MQRankSum
type: SiteQuality
SIO_000300: -4.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.131e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.532736e6

GenotypeQuality
all individuals: 957
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.532582e6

FS
type: SiteQuality
SIO_000300: 3.204e0

VQSLOD
type: SiteQuality
SIO_000300: -2.22e0

MQ
type: SiteQuality
SIO_000300: 5.791e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.086e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 2.186e1

GenotypeQuality
all individuals: 956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
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: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQ
type: SiteQuality
SIO_000300: 5.779e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 8.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.555e0

DP
type: SiteQuality
SIO_000300: 1.532773e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7081
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: -3.583e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

MQ
type: SiteQuality
SIO_000300: 5.222e1

DP
type: SiteQuality
SIO_000300: 1.532867e6

FS
type: SiteQuality
SIO_000300: 7.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.374e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
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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: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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

DP
type: SiteQuality
SIO_000300: 1.532975e6

FS
type: SiteQuality
SIO_000300: 3.343e0

MQRankSum
type: SiteQuality
SIO_000300: -1.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.572e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

East Asian
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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

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
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MQ
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DP
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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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.72e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
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allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

Latino
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allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 1

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

European (Non-Finnish)
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allele count: 62
allele frequency: 9.291173385283981e-4
allele num: 66730
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.540583e6

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.756e0

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.919e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.904e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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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variant carriers: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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Latino
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African
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allele frequency: 9.615384615384615e-5
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European (Non-Finnish)
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num of homozygotes: 0

MQ
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MQRankSum
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16508
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East Asian
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Latino
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allele frequency: 2.591121091725686e-4
allele num: 11578
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European (Finnish)
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allele num: 6614
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African
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allele frequency: 4.807692307692308e-4
allele num: 10400
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.049034887903129e-4
allele num: 66728
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 9.615384615384616e-4
allele num: 10400
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East Asian
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Other
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num of homozygotes: 0

South Asian
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MQRankSum
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FS
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ReadPosRankSum
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QD
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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South Asian
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European (Finnish)
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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East Asian
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allele num: 8654
num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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South Asian
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allele num: 16508
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European (Finnish)
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num of homozygotes: 0

MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele num: 11578
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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African
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East Asian
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num of homozygotes: 0

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

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

QD
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DP
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FS
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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QD
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Non-Finnish)
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allele num: 66180
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Latino
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European (Finnish)
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East Asian
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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FS
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MQRankSum
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QD
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VQSLOD
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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Other
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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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
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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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
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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
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1824
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 16164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 3.387488e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.007e1

FS
type: SiteQuality
SIO_000300: 4.439e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
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: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 3.388664e6

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

GenotypeQuality
all individuals: 79
bin: 3.25e1
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
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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: 1825
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variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 7.75e1
variant carriers: 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: 66542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.389752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.095e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 987
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.299e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

FS
type: SiteQuality
SIO_000300: 5.015e0

DP
type: SiteQuality
SIO_000300: 3.392488e6

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 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: 3
allele frequency: 4.503152206544582e-5
allele num: 66620
num of homozygotes: 1

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.418e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 3.394104e6

QD
type: SiteQuality
SIO_000300: 1.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.339e0

VQSLOD
type: SiteQuality
SIO_000300: -9.799e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.263e-1

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

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.524e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.536e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.617e0

DP
type: SiteQuality
SIO_000300: 1.54013e6

FS
type: SiteQuality
SIO_000300: 1.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

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
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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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variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 0

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

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

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: 66652
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: 16466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.39486e6

VQSLOD
type: SiteQuality
SIO_000300: -1.573e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 9.807e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.654e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.705e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 6614
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: 16476
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.014e1

DP
type: SiteQuality
SIO_000300: 3.394965e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9
bin: 2.75e1
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: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 10400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.857e1

FS
type: SiteQuality
SIO_000300: 1.028e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 3.395318e6

GenotypeQuality
all individuals: 20
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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
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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
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variant carriers: 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: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

Latino
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European (Finnish)
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East Asian
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African
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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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
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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
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.499790029395885e-5
allele num: 66676
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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African
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Latino
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Other
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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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
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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
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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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
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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
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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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
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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
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Latino
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Other
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South Asian
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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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
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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
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Other
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Latino
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African
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QD
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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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
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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
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African
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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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
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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
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African
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Latino
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European (Finnish)
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East Asian
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FS
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VQSLOD
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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DP
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QD
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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
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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
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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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
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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
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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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
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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
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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Latino
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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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
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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
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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Other
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South Asian
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DP
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MQRankSum
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FS
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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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
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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
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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Latino
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Other
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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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
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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
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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Other
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South Asian
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VQSLOD
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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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
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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
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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Other
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FS
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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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
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.244280101687081e-4
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

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

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 3.398262e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.335e1

GenotypeQuality
all individuals: 982
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.296867975423348e-4
allele num: 66730
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: 765
allele frequency: 7.352941176470588e-2
allele num: 10404
num of homozygotes: 34

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

Latino
type: Population
allele count: 43
allele frequency: 3.713940231473484e-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: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.512252e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.65e-2

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

GenotypeQuality
all individuals: 1853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39096
bin: 9.75e1
variant carriers: 1

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

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: 10404
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: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 1.102e0

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.403913e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39100
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
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: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 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: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 3.40769e6

QD
type: SiteQuality
SIO_000300: 1.55e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3091
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variant carriers: 0

GenotypeQuality
all individuals: 997
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39100
bin: 9.75e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498576352465158e-4
allele num: 66730
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: 908
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: 10404
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.40769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 39097
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1540
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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

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: 908
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 7.595e0

DP
type: SiteQuality
SIO_000300: 3.405236e6

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.887e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 1078
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1580
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 8.75e1
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: 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

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: 10404
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: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

VQSLOD
type: SiteQuality
SIO_000300: -8.591e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 8.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 3.405637e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 997
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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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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 3093
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39103
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 15
allele frequency: 1.441753171856978e-3
allele num: 10404
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: 9
allele frequency: 1.348718717218642e-4
allele num: 66730
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.909656244601831e-4
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: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

DP
type: SiteQuality
SIO_000300: 3.410421e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39110
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variant carriers: 123

GenotypeQuality
all individuals: 1851
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GenotypeQuality
all individuals: 3092
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 99
allele frequency: 1.483590588940507e-3
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

DP
type: SiteQuality
SIO_000300: 3.425586e6

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 966
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1824
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GenotypeQuality
all individuals: 1486
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2979
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39705
bin: 9.75e1
variant carriers: 2840

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

East Asian
type: Population
allele count: 234
allele frequency: 2.703951929743471e-2
allele num: 8654
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 208
allele frequency: 3.144844269730874e-2
allele num: 6614
num of homozygotes: 4

South Asian
type: Population
allele count: 131
allele frequency: 7.933624031007752e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 479
allele frequency: 7.178395875794269e-3
allele num: 66728
num of homozygotes: 5

Latino
type: Population
allele count: 125
allele frequency: 1.079633788219036e-2
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1847
allele frequency: 1.775278738946559e-1
allele num: 10404
num of homozygotes: 187

Other
type: Population
allele count: 20
allele frequency: 2.202643171806168e-2
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.099e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

DP
type: SiteQuality
SIO_000300: 3.823713e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.492e1